Variant report

Variant	nsv967776
Chromosome Location	chr4:100869249-100872047
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1104)
CpG islands
(count:793)
Chromatin interactive
region (count:68)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1104 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:100871309-100872067	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:100870105-100870851	K562	blood:	n/a	chr4:100870611-100870619 chr4:100870840-100870848
3	ARID3A	chr4:100870078-100870519	HepG2	liver:	n/a	n/a
4	ATF2	chr4:100869900-100871025	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr4:100869905-100870773	GM12878	blood:	n/a	n/a
6	ATF2	chr4:100871070-100871599	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr4:100871128-100871653	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr4:100869939-100870983	GM12878	blood:	n/a	n/a
9	ATF2	chr4:100871090-100872118	GM12878	blood:	n/a	n/a
10	ATF2	chr4:100869887-100870874	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr4:100871121-100871599	A549	lung:	n/a	n/a
12	ATF3	chr4:100870113-100870581	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr4:100870062-100870574	K562	blood:	n/a	n/a
14	ATF3	chr4:100871607-100871896	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF3	chr4:100870169-100870467	K562	blood:	n/a	n/a
16	ATF3	chr4:100871568-100872032	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF3	chr4:100871618-100871959	K562	blood:	n/a	n/a
18	ATF3	chr4:100871195-100871623	K562	blood:	n/a	n/a
19	BACH1	chr4:100870166-100871420	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr4:100869922-100870906	K562	blood:	n/a	n/a
21	BATF	chr4:100870091-100870511	GM12878	blood:	n/a	n/a
22	BATF	chr4:100871187-100871533	GM12878	blood:	n/a	n/a
23	BCL3	chr4:100871153-100871917	GM12878	blood:	n/a	n/a
24	BCL3	chr4:100871169-100871628	A549	lung:	n/a	n/a
25	BCL3	chr4:100871068-100871552	A549	lung:	n/a	n/a
26	BCLAF1	chr4:100871066-100871556	GM12878	blood:	n/a	n/a
27	BCLAF1	chr4:100869895-100870540	GM12878	blood:	n/a	n/a
28	BCLAF1	chr4:100871104-100871558	GM12878	blood:	n/a	n/a
29	BCLAF1	chr4:100871070-100871566	K562	blood:	n/a	n/a
30	BCLAF1	chr4:100869964-100870705	GM12878	blood:	n/a	n/a
31	BCLAF1	chr4:100870022-100871053	K562	blood:	n/a	n/a
32	BHLHE40	chr4:100870157-100870997	GM12878	blood:	n/a	n/a
33	BHLHE40	chr4:100870156-100870798	HepG2	liver:	n/a	n/a
34	BHLHE40	chr4:100871211-100872296	HepG2	liver:	n/a	n/a
35	BHLHE40	chr4:100870102-100872513	K562	blood:	n/a	n/a
36	BHLHE40	chr4:100871633-100871959	A549	lung:	n/a	n/a
37	BHLHE40	chr4:100871205-100872262	GM12878	blood:	n/a	n/a
38	BHLHE40	chr4:100871606-100871881	HepG2	liver:	n/a	n/a
39	BRCA1	chr4:100871228-100871573	HepG2	liver:	n/a	n/a
40	BRCA1	chr4:100871265-100871485	GM12878	blood:	n/a	n/a
41	BRCA1	chr4:100870802-100870816	GM12878	blood:	n/a	n/a
42	BRCA1	chr4:100870138-100870593	Hela-S3	cervix:	n/a	n/a
43	BRCA1	chr4:100870187-100870937	H1-hESC	embryonic stem cell:	n/a	n/a
44	BRCA1	chr4:100871280-100871880	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr4:100871272-100871899	H1-hESC	embryonic stem cell:	n/a	n/a
46	CBX3	chr4:100871205-100871555	K562	blood:	n/a	n/a
47	CBX3	chr4:100870010-100870993	K562	blood:	n/a	n/a
48	CBX3	chr4:100871092-100872242	K562	blood:	n/a	n/a
49	CCNT2	chr4:100870202-100872058	K562	blood:	n/a	n/a
50	CEBPB	chr4:100872010-100872549	K562	blood:	n/a	n/a

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:100870488-100870538	HUVEC	blood vessel:	n/a
2	chr4:100871534-100871584	PANC-1	pancreas:	n/a
3	chr4:100870323-100870373	SK-N-SH_RA	brain:	n/a
4	chr4:100871484-100871534	A549	lung:	n/a
5	chr4:100870323-100870373	RPTEC	kidney:	n/a
6	chr4:100871534-100871584	CMK	blood:	n/a
7	chr4:100871534-100871584	NHDF-neo	bronchial:	n/a
8	chr4:100870750-100870800	HCF	heart:	n/a
9	chr4:100871315-100871365	HAEpiC	amniotic membrane:	n/a
10	chr4:100871523-100871573	ovcar-3	ovarian:	n/a
11	chr4:100871523-100871573	AG10803	skin:	n/a
12	chr4:100871315-100871365	AG10803	skin:	n/a
13	chr4:100870323-100870373	AG04450	lung:	fetal
14	chr4:100870488-100870538	Caco-2	colon:	n/a
15	chr4:100871315-100871365	LNCaP	prostate:	n/a
16	chr4:100871484-100871534	HCF	heart:	n/a
17	chr4:100871484-100871534	HIPEpiC	eye:	n/a
18	chr4:100871315-100871365	GM12891	blood:	n/a
19	chr4:100870642-100870692	HNPCEpiC	eye:	n/a
20	chr4:100870737-100870787	A549	lung:	n/a
21	chr4:100871523-100871573	SKMC	muscle:	n/a
22	chr4:100871523-100871573	CMK	blood:	n/a
23	chr4:100870642-100870692	GM12892	blood:	n/a
24	chr4:100870488-100870538	NH-A	brain:	n/a
25	chr4:100871484-100871534	HRPEpiC	eye:	n/a
26	chr4:100871536-100871586	HUVEC	blood vessel:	n/a
27	chr4:100871523-100871573	HL-60	blood:	n/a
28	chr4:100871150-100871200	AG09319	gingival:	n/a
29	chr4:100871536-100871586	SAEC	small airway:	n/a
30	chr4:100871536-100871586	HCT-116	colon:	n/a
31	chr4:100870488-100870538	Hela-S3	cervix:	n/a
32	chr4:100871315-100871365	SK-N-SH	brain:	n/a
33	chr4:100871523-100871573	HEK293	kidney:	embryo
34	chr4:100870488-100870538	AoSMC	blood vessel:	n/a
35	chr4:100871534-100871584	HUVEC	blood vessel:	n/a
36	chr4:100870750-100870800	T-47D	breast:	n/a
37	chr4:100871534-100871584	HEK293	kidney:	embryo
38	chr4:100870750-100870800	HAEpiC	amniotic membrane:	n/a
39	chr4:100870488-100870538	NHBE	bronchial:	n/a
40	chr4:100870488-100870538	LNCaP	prostate:	n/a
41	chr4:100871484-100871534	PANC-1	pancreas:	n/a
42	chr4:100870750-100870800	PrEC	prostate:	n/a
43	chr4:100871315-100871365	MCF-7	breast:	n/a
44	chr4:100871523-100871573	HAEpiC	amniotic membrane:	n/a
45	chr4:100870687-100870737	MCF-7	breast:	n/a
46	chr4:100871484-100871534	SK-N-SH_RA	brain:	n/a
47	chr4:100870642-100870692	H1-hESC	embryonic stem cell:	embryo
48	chr4:100871534-100871584	ProgFib	skin:	n/a
49	chr4:100870642-100870692	BJ	skin:	n/a
50	chr4:100871536-100871586	GM19239	blood:	n/a

(count:68 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:100868231..100870491-chr4:101024426..101027309,2	K562	blood:
2	chr4:100814600..100817376-chr4:100869817..100872742,4	MCF-7	breast:
3	chr17:79280417..79282564-chr4:100871183..100873116,2	MCF-7	breast:
4	chr4:99917543..99919718-chr4:100869895..100871909,3	K562	blood:
5	chr4:100871249..100872202-chr9:19230443..19231402,2	Hela-S3	cervix:
6	chr4:100777426..100780201-chr4:100868427..100870605,2	K562	blood:
7	chr1:209957820..209958586-chr4:100871003..100871812,2	Hela-S3	cervix:
8	chr4:100868745..100870761-chr4:100992723..100994637,2	K562	blood:
9	chr4:100737796..100739417-chr4:100869938..100872690,3	MCF-7	breast:
10	chr4:100729924..100732920-chr4:100868919..100870955,3	K562	blood:
11	chr4:100009534..100010241-chr4:100870932..100871664,2	NB4	blood:
12	chr4:100483327..100486538-chr4:100869980..100873651,6	K562	blood:
13	chr4:100826139..100827985-chr4:100868304..100870406,2	K562	blood:
14	chr19:1269051..1269796-chr4:100870870..100871604,2	Hela-S3	cervix:
15	chr4:100871315..100874297-chr4:103746830..103749271,3	K562	blood:
16	chr4:100869091..100871239-chr4:103351380..103353176,2	K562	blood:
17	chr4:100869383..100871934-chr4:102267599..102271042,3	K562	blood:
18	chr4:100784573..100786604-chr4:100870218..100872169,2	K562	blood:
19	chr4:100845037..100846550-chr4:100867903..100869729,2	MCF-7	breast:
20	chr15:40886023..40886562-chr4:100871091..100871607,2	Hela-S3	cervix:
21	chr4:100813266..100817175-chr4:100865527..100871657,11	MCF-7	breast:
22	chr18:3594416..3594966-chr4:100870767..100871374,2	Hela-S3	cervix:
23	chr4:100784573..100786137-chr4:100870218..100872755,2	K562	blood:
24	chr21:46237469..46238317-chr4:100870908..100871458,2	Hela-S3	cervix:
25	chr4:100737053..100739337-chr4:100869822..100871487,2	K562	blood:
26	chr4:99850379..99851880-chr4:100869996..100872136,2	K562	blood:
27	chr4:100733785..100736226-chr4:100868711..100870778,2	MCF-7	breast:
28	chr4:100008800..100012914-chr4:100866380..100869813,4	K562	blood:
29	chr4:100870088..100872119-chr4:103789876..103793001,3	K562	blood:
30	chr4:100869894..100871447-chr4:100910758..100913096,2	K562	blood:
31	chr4:100008800..100013313-chr4:100866380..100869813,5	K562	blood:
32	chr12:50135277..50135820-chr4:100870509..100871438,2	Hela-S3	cervix:
33	chr14:103058428..103059398-chr4:100870932..100871754,2	NB4	blood:
34	chr4:100870905..100871510-chr5:115176773..115177440,2	NB4	blood:
35	chr4:100483953..100487087-chr4:100868908..100871675,3	MCF-7	breast:
36	chr4:100869660..100871292-chr4:129732222..129733752,2	K562	blood:
37	chr10:102825899..102826450-chr4:100871390..100872178,2	Hela-S3	cervix:
38	chr3:73160104..73161068-chr4:100870920..100871540,2	Hela-S3	cervix:
39	chr4:87927389..87929061-chr4:100868201..100870359,2	K562	blood:
40	chr4:100856020..100858032-chr4:100868560..100871073,2	K562	blood:
41	chr4:100733036..100733650-chr4:100869824..100870747,2	K562	blood:
42	chr13:91999673..92001318-chr4:100870740..100872493,2	K562	blood:
43	chr4:100869528..100871186-chr4:107235611..107237116,2	K562	blood:
44	chr16:75283952..75284833-chr4:100870945..100871827,2	Hela-S3	cervix:
45	chr1:153508215..153509143-chr4:100870830..100871549,2	Hela-S3	cervix:
46	chr4:100458736..100461686-chr4:100868132..100870522,2	K562	blood:
47	chr4:99915636..99917371-chr4:100869943..100872361,4	K562	blood:
48	chr11:60928578..60929452-chr4:100871222..100871899,2	Hela-S3	cervix:
49	chr4:100840471..100849591-chr4:100866268..100873122,18	K562	blood:
50	chr4:100480938..100486909-chr4:100867873..100873651,15	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DAPP1-2	chr4:100871680-100871837	ENSG00000245322.2
2	lnc-DAPP1-1	chr4:100871163-100871385	ENSG00000245322.2
3	lnc-DAPP1-2	chr4:100871517-100873711	NONHSAT097550
4	lnc-DAPP1-2	chr4:100871647-100871837	ENSG00000245322.2
5	lnc-DAPP1-2	chr4:100871636-100873620	NR_002799

No data

Variant related genes	Relation type
DNAJB14	TF binding region
H2AFZ	TF binding region
ENSG00000245322	TF binding region
DNAJB14	CpG island
H2AFZ	CpG island
ENSG00000245322	CpG island
ENSG00000215417	chromatin interactions
ENSG00000250403	chromatin interactions
ENSG00000167987	chromatin interactions
ENSG00000138814	chromatin interactions
ENSG00000246560	chromatin interactions
ENSG00000172493	chromatin interactions
ENSG00000263923	chromatin interactions
ENSG00000050820	chromatin interactions
ENSG00000099622	chromatin interactions
ENSG00000177337	chromatin interactions
ENSG00000151247	chromatin interactions
ENSG00000197894	chromatin interactions
ENSG00000138821	chromatin interactions
ENSG00000137812	chromatin interactions
ENSG00000109270	chromatin interactions
ENSG00000197956	chromatin interactions
ENSG00000198858	chromatin interactions
ENSG00000238449	chromatin interactions
ENSG00000145354	chromatin interactions
ENSG00000138757	chromatin interactions
ENSG00000246090	chromatin interactions
ENSG00000138823	chromatin interactions
ENSG00000139644	chromatin interactions
ENSG00000077684	chromatin interactions
ENSG00000265213	chromatin interactions
ENSG00000185168	chromatin interactions
ENSG00000177879	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000164031	chromatin interactions
ENSG00000241185	chromatin interactions
ENSG00000254531	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000248161	chromatin interactions
ENSG00000137145	chromatin interactions
ENSG00000162757	chromatin interactions
ENSG00000145331	chromatin interactions
ENSG00000099812	chromatin interactions
ENSG00000164024	chromatin interactions
ENSG00000065559	chromatin interactions
ENSG00000164022	chromatin interactions
ENSG00000109332	chromatin interactions
ENSG00000089902	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000107821	chromatin interactions
ENSG00000070190	chromatin interactions
ENSG00000207501	chromatin interactions
ENSG00000145782	chromatin interactions

Extended variants
information (count: 144 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1799890	chr4:100869280-100869281	Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs530951864	chr4:100869352-100869353	Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs549079846	chr4:100869353-100869354	Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs1803732	chr4:100869368-100869369	Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs11554390	chr4:100869381-100869382	Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs561675868	chr4:100869420-100869421	Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs202011503	chr4:100869441-100869442	Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs529141527	chr4:100869443-100869444	Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs547235182	chr4:100869469-100869470	Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs1803729	chr4:100869472-100869473	Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs1803731	chr4:100869481-100869482	Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs3209283	chr4:100869488-100869489	Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs565541399	chr4:100869500-100869501	Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs539216506	chr4:100869502-100869503	Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs11554395	chr4:100869510-100869511	Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs368187649	chr4:100869592-100869593	Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs551468495	chr4:100869634-100869635	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs11554391	chr4:100869635-100869636	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs371942491	chr4:100869643-100869644	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs569620023	chr4:100869683-100869684	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs374873239	chr4:100869693-100869694	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs201726975	chr4:100869706-100869707	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs555055708	chr4:100869710-100869711	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs190024711	chr4:100869720-100869721	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs535333977	chr4:100869747-100869748	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs147645289	chr4:100869755-100869756	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs578224427	chr4:100869772-100869773	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs545237681	chr4:100869790-100869791	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs547192018	chr4:100869794-100869795	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs142139638	chr4:100869816-100869817	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs78656098	chr4:100869847-100869848	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs181236803	chr4:100869854-100869855	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs528420701	chr4:100869884-100869885	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs75993900	chr4:100869885-100869886	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs577965969	chr4:100869888-100869889	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs545675261	chr4:100869930-100869931	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
37	rs376782735	chr4:100869937-100869938	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
38	rs540936185	chr4:100869955-100869956	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
39	rs369350507	chr4:100869969-100869970	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
40	rs143698630	chr4:100869975-100869976	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
41	rs11554386	chr4:100870043-100870044	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
42	rs11554394	chr4:100870055-100870056	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
43	rs375051093	chr4:100870092-100870093	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
44	rs372912583	chr4:100870133-100870134	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
45	rs559185347	chr4:100870168-100870169	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
46	rs114299525	chr4:100870170-100870171	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
47	rs61203457	chr4:100870182-100870183	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	25 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs545426612	chr4:100870184-100870185	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
49	rs376045749	chr4:100870233-100870234	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
50	rs569763623	chr4:100870271-100870272	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100868000-100871000	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr4:100868200-100870000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:100868200-100870200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:100868200-100870200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:100868200-100870200	Transcr. at gene 5' and 3'	A549	lung
6	chr4:100868200-100870600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:100868400-100869400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:100868400-100869800	Enhancers	Fetal Brain Male	brain
9	chr4:100868400-100869800	Genic enhancers	Fetal Lung	lung
10	chr4:100868400-100870000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:100868400-100870000	Weak transcription	Esophagus	oesophagus
12	chr4:100868400-100870000	Enhancers	Fetal Heart	heart
13	chr4:100868400-100870000	Weak transcription	Left Ventricle	heart
14	chr4:100868400-100870000	Weak transcription	Ovary	ovary
15	chr4:100868400-100870000	Weak transcription	Spleen	Spleen
16	chr4:100868400-100870200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
17	chr4:100868400-100870200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
18	chr4:100868400-100870200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:100868400-100870200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
20	chr4:100868400-100870200	Transcr. at gene 5' and 3'	K562	blood
21	chr4:100868400-100870400	Weak transcription	Lung	lung
22	chr4:100868400-100870400	Weak transcription	Small Intestine	intestine
23	chr4:100868400-100870400	Transcr. at gene 5' and 3'	NHEK	skin
24	chr4:100868400-100870800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
25	chr4:100868400-100870800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
26	chr4:100868600-100869400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr4:100868600-100869400	Enhancers	Brain Hippocampus Middle	brain
28	chr4:100868600-100869400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr4:100868600-100869600	Strong transcription	Fetal Muscle Trunk	muscle
30	chr4:100868600-100869600	Genic enhancers	Fetal Thymus	thymus
31	chr4:100868600-100869600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr4:100868600-100869800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:100868600-100869800	Genic enhancers	Primary T cells fromperipheralblood	blood
34	chr4:100868600-100869800	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr4:100868600-100869800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr4:100868600-100869800	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:100868600-100869800	Weak transcription	HSMMtube	muscle
38	chr4:100868600-100869800	Genic enhancers	Osteobl	bone
39	chr4:100868600-100870000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:100868600-100870000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:100868600-100870000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
42	chr4:100868600-100870000	Genic enhancers	Primary B cells from peripheral blood	blood
43	chr4:100868600-100870000	Enhancers	Primary hematopoietic stem cells	blood
44	chr4:100868600-100870000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
45	chr4:100868600-100870000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:100868600-100870000	Weak transcription	Brain Angular Gyrus	brain
47	chr4:100868600-100870000	Enhancers	Brain Substantia Nigra	brain
48	chr4:100868600-100870000	Enhancers	Colon Smooth Muscle	Colon
49	chr4:100868600-100870000	Weak transcription	Gastric	stomach
50	chr4:100868600-100870000	Weak transcription	Pancreas	Pancrea

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