Variant report

Variant	nsv822668
Chromosome Location	chr4:100869757-100872113
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1080)
CpG islands
(count:793)
Chromatin interactive
region (count:66)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1080 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

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	chr4:100871070-100871599	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr4:100871090-100872118	GM12878	blood:	n/a	n/a
6	ATF2	chr4:100869905-100870773	GM12878	blood:	n/a	n/a
7	ATF2	chr4:100869900-100871025	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr4:100871128-100871653	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr4:100869887-100870874	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr4:100869939-100870983	GM12878	blood:	n/a	n/a
11	ATF3	chr4:100871607-100871896	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr4:100871195-100871623	K562	blood:	n/a	n/a
13	ATF3	chr4:100870169-100870467	K562	blood:	n/a	n/a
14	ATF3	chr4:100871568-100872032	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF3	chr4:100870113-100870581	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF3	chr4:100871121-100871599	A549	lung:	n/a	n/a
17	ATF3	chr4:100871618-100871959	K562	blood:	n/a	n/a
18	ATF3	chr4:100870062-100870574	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	chr4:100871068-100871552	A549	lung:	n/a	n/a
24	BCL3	chr4:100871153-100871917	GM12878	blood:	n/a	n/a
25	BCL3	chr4:100871169-100871628	A549	lung:	n/a	n/a
26	BCLAF1	chr4:100869964-100870705	GM12878	blood:	n/a	n/a
27	BCLAF1	chr4:100871104-100871558	GM12878	blood:	n/a	n/a
28	BCLAF1	chr4:100870022-100871053	K562	blood:	n/a	n/a
29	BCLAF1	chr4:100871066-100871556	GM12878	blood:	n/a	n/a
30	BCLAF1	chr4:100869895-100870540	GM12878	blood:	n/a	n/a
31	BCLAF1	chr4:100871070-100871566	K562	blood:	n/a	n/a
32	BHLHE40	chr4:100870157-100870997	GM12878	blood:	n/a	n/a
33	BHLHE40	chr4:100871205-100872262	GM12878	blood:	n/a	n/a
34	BHLHE40	chr4:100870102-100872513	K562	blood:	n/a	n/a
35	BHLHE40	chr4:100870156-100870798	HepG2	liver:	n/a	n/a
36	BHLHE40	chr4:100871633-100871959	A549	lung:	n/a	n/a
37	BHLHE40	chr4:100871606-100871881	HepG2	liver:	n/a	n/a
38	BHLHE40	chr4:100871211-100872296	HepG2	liver:	n/a	n/a
39	BRCA1	chr4:100871228-100871573	HepG2	liver:	n/a	n/a
40	BRCA1	chr4:100870187-100870937	H1-hESC	embryonic stem cell:	n/a	n/a
41	BRCA1	chr4:100871272-100871899	H1-hESC	embryonic stem cell:	n/a	n/a
42	BRCA1	chr4:100870138-100870593	Hela-S3	cervix:	n/a	n/a
43	BRCA1	chr4:100871280-100871880	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr4:100870802-100870816	GM12878	blood:	n/a	n/a
45	BRCA1	chr4:100871265-100871485	GM12878	blood:	n/a	n/a
46	CBX3	chr4:100871205-100871555	K562	blood:	n/a	n/a
47	CBX3	chr4:100871092-100872242	K562	blood:	n/a	n/a
48	CBX3	chr4:100870010-100870993	K562	blood:	n/a	n/a
49	CCNT2	chr4:100870202-100872058	K562	blood:	n/a	n/a
50	CEBPB	chr4:100870164-100870550	A549	lung:	n/a	chr4:100870347-100870358

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:100871315-100871365	HEK293	kidney:	embryo
2	chr4:100871315-100871365	HAEpiC	amniotic membrane:	n/a
3	chr4:100870323-100870373	PANC-1	pancreas:	n/a
4	chr4:100870737-100870787	GM12878	blood:	n/a
5	chr4:100871315-100871365	AoSMC	blood vessel:	n/a
6	chr4:100870737-100870787	BE2_C	brain:	n/a
7	chr4:100871315-100871365	ECC-1	luminal epithelium:	n/a
8	chr4:100870737-100870787	T-47D	breast:	n/a
9	chr4:100870323-100870373	MCF-7	breast:	n/a
10	chr4:100870488-100870538	HAEpiC	amniotic membrane:	n/a
11	chr4:100870750-100870800	NHDF-neo	bronchial:	n/a
12	chr4:100870642-100870692	PFSK-1	brain:	n/a
13	chr4:100871150-100871200	HIPEpiC	eye:	n/a
14	chr4:100871315-100871365	AG09319	gingival:	n/a
15	chr4:100871536-100871586	HRE	kidney:	n/a
16	chr4:100871484-100871534	MCF-7	breast:	n/a
17	chr4:100871484-100871534	GM19239	blood:	n/a
18	chr4:100870642-100870692	MCF10A-Er-Src	breast:	n/a
19	chr4:100870737-100870787	HepG2	liver:	n/a
20	chr4:100870642-100870692	NHBE	bronchial:	n/a
21	chr4:100870737-100870787	NHBE	bronchial:	n/a
22	chr4:100871150-100871200	ovcar-3	ovarian:	n/a
23	chr4:100871315-100871365	NH-A	brain:	n/a
24	chr4:100870323-100870373	SKMC	muscle:	n/a
25	chr4:100871150-100871200	A549	lung:	n/a
26	chr4:100870488-100870538	GM12878	blood:	n/a
27	chr4:100871993-100872043	HCT-116	colon:	n/a
28	chr4:100870323-100870373	Caco-2	colon:	n/a
29	chr4:100870737-100870787	HEK293	kidney:	embryo
30	chr4:100871523-100871573	HCPEpiC	choroid plexus:	n/a
31	chr4:100871993-100872043	NB4	blood:	n/a
32	chr4:100870687-100870737	BJ	skin:	n/a
33	chr4:100870642-100870692	HRPEpiC	eye:	n/a
34	chr4:100870323-100870373	SK-N-MC	brain:	n/a
35	chr4:100871536-100871586	PFSK-1	brain:	n/a
36	chr4:100871536-100871586	ECC-1	luminal epithelium:	n/a
37	chr4:100870687-100870737	NH-A	brain:	n/a
38	chr4:100870488-100870538	NH-A	brain:	n/a
39	chr4:100871150-100871200	U87	brain:	n/a
40	chr4:100870750-100870800	Hepatocyte	liver:	n/a
41	chr4:100870642-100870692	HEEpiC	esophagus:	n/a
42	chr4:100871993-100872043	Hepatocyte	liver:	n/a
43	chr4:100871534-100871584	NHDF-neo	bronchial:	n/a
44	chr4:100871993-100872043	HPAEpiC	pulmonary alveolar:	n/a
45	chr4:100871993-100872043	HCM	heart:	n/a
46	chr4:100870687-100870737	GM12891	blood:	n/a
47	chr4:100871523-100871573	K562	blood:	n/a
48	chr4:100870642-100870692	HCM	heart:	n/a
49	chr4:100871536-100871586	HMEC	breast:	n/a
50	chr4:100871993-100872043	IMR90	lung:	fetal

(count:66 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr18:3594416..3594966-chr4:100870767..100871374,2	Hela-S3	cervix:
2	chr1:153508215..153509143-chr4:100870830..100871549,2	Hela-S3	cervix:
3	chr14:103058428..103059398-chr4:100870932..100871754,2	NB4	blood:
4	chr4:100480938..100486909-chr4:100867873..100873651,15	K562	blood:
5	chr17:79280417..79282564-chr4:100871183..100873116,2	MCF-7	breast:
6	chr4:100869091..100871239-chr4:103351380..103353176,2	K562	blood:
7	chr4:99850379..99851880-chr4:100869996..100872136,2	K562	blood:
8	chr4:100814600..100817376-chr4:100869817..100872742,4	MCF-7	breast:
9	chr4:100483953..100487087-chr4:100868908..100871675,3	MCF-7	breast:
10	chr4:100870088..100872119-chr4:103789876..103793001,3	K562	blood:
11	chr17:11923049..11926004-chr4:100870025..100871677,2	MCF-7	breast:
12	chr4:100733036..100733650-chr4:100869824..100870747,2	K562	blood:
13	chr4:100826139..100827985-chr4:100868304..100870406,2	K562	blood:
14	chr19:1269051..1269796-chr4:100870870..100871604,2	Hela-S3	cervix:
15	chr12:50135277..50135820-chr4:100870509..100871438,2	Hela-S3	cervix:
16	chr4:100810623..100827791-chr4:100865444..100874425,55	K562	blood:
17	chr4:100856020..100858032-chr4:100868560..100871073,2	K562	blood:
18	chr4:100784573..100786604-chr4:100870218..100872169,2	K562	blood:
19	chr4:100869894..100871447-chr4:100910758..100913096,2	K562	blood:
20	chr4:100869528..100871186-chr4:107235611..107237116,2	K562	blood:
21	chr13:91999673..92001318-chr4:100870740..100872493,2	K562	blood:
22	chr4:100009534..100010241-chr4:100870932..100871664,2	NB4	blood:
23	chr19:751070..751830-chr4:100870953..100871942,2	Hela-S3	cervix:
24	chr4:100483327..100486538-chr4:100869980..100873651,6	K562	blood:
25	chr3:73160104..73161068-chr4:100870920..100871540,2	Hela-S3	cervix:
26	chr4:100777426..100780201-chr4:100868427..100870605,2	K562	blood:
27	chr4:100869383..100871934-chr4:102267599..102271042,3	K562	blood:
28	chr4:100868231..100870491-chr4:101024426..101027309,2	K562	blood:
29	chr4:100871315..100874297-chr4:103746830..103749271,3	K562	blood:
30	chr4:100870517..100873586-chr4:103747603..103750269,4	K562	blood:
31	chr21:46237469..46238317-chr4:100870908..100871458,2	Hela-S3	cervix:
32	chr4:100458736..100461686-chr4:100868132..100870522,2	K562	blood:
33	chr4:100729924..100732920-chr4:100868919..100870955,3	K562	blood:
34	chr4:100868036..100870819-chr4:100983381..100985122,2	K562	blood:
35	chr17:41465854..41466380-chr4:100871612..100872319,2	NB4	blood:
36	chr4:87927389..87929061-chr4:100868201..100870359,2	K562	blood:
37	chr4:100871249..100872202-chr9:19230443..19231402,2	Hela-S3	cervix:
38	chr4:100732685..100733656-chr4:100869707..100870512,2	MCF-7	breast:
39	chr16:75283952..75284833-chr4:100870945..100871827,2	Hela-S3	cervix:
40	chr10:102825899..102826450-chr4:100871390..100872178,2	Hela-S3	cervix:
41	chr4:99917543..99919718-chr4:100869895..100871909,3	K562	blood:
42	chr4:100870905..100871510-chr5:115176773..115177440,2	NB4	blood:
43	chr15:40886023..40886562-chr4:100871091..100871607,2	Hela-S3	cervix:
44	chr4:100824278..100827001-chr4:100871760..100873443,2	K562	blood:
45	chr4:99915655..99920524-chr4:100869895..100872849,4	K562	blood:
46	chr4:99848722..99851880-chr4:100870275..100872713,4	K562	blood:
47	chr4:76597989..76600371-chr4:100870169..100871877,2	K562	blood:
48	chr4:100737053..100739337-chr4:100869822..100871487,2	K562	blood:
49	chr4:99848589..99851336-chr4:100870396..100872880,2	MCF-7	breast:
50	chr4:100850716..100855335-chr4:100865818..100872882,15	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DAPP1-2	chr4:100871647-100871837	ENSG00000245322.2
2	lnc-DAPP1-2	chr4:100871517-100873711	NONHSAT097550
3	lnc-DAPP1-1	chr4:100871163-100871385	ENSG00000245322.2
4	lnc-DAPP1-2	chr4:100871680-100871837	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
ENSG00000238449	chromatin interactions
ENSG00000248161	chromatin interactions
ENSG00000185168	chromatin interactions
ENSG00000164022	chromatin interactions
ENSG00000050820	chromatin interactions
ENSG00000145331	chromatin interactions
ENSG00000065559	chromatin interactions
ENSG00000246090	chromatin interactions
ENSG00000138757	chromatin interactions
ENSG00000138814	chromatin interactions
ENSG00000137145	chromatin interactions
ENSG00000241185	chromatin interactions
ENSG00000254531	chromatin interactions
ENSG00000109332	chromatin interactions
ENSG00000139644	chromatin interactions
ENSG00000177879	chromatin interactions
ENSG00000172493	chromatin interactions
ENSG00000109270	chromatin interactions
ENSG00000197894	chromatin interactions
ENSG00000177337	chromatin interactions
ENSG00000151247	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000145782	chromatin interactions
ENSG00000162757	chromatin interactions
ENSG00000265213	chromatin interactions
ENSG00000107821	chromatin interactions
ENSG00000138821	chromatin interactions
ENSG00000070190	chromatin interactions
ENSG00000077684	chromatin interactions
ENSG00000197956	chromatin interactions
ENSG00000215417	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000164031	chromatin interactions
ENSG00000099812	chromatin interactions
ENSG00000198858	chromatin interactions
ENSG00000246560	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000089902	chromatin interactions
ENSG00000167987	chromatin interactions
ENSG00000263923	chromatin interactions
ENSG00000145354	chromatin interactions
ENSG00000164024	chromatin interactions
ENSG00000137812	chromatin interactions
ENSG00000250403	chromatin interactions
ENSG00000138823	chromatin interactions
ENSG00000207501	chromatin interactions
ENSG00000099622	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	rs565394949	chr4:100870305-100870306	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
26	rs527891782	chr4:100870309-100870310	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
27	rs186120127	chr4:100870325-100870326	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
28	rs2276939	chr4:100870375-100870376	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)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs575323711	chr4:100870387-100870388	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
30	rs376884397	chr4:100870395-100870396	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
31	rs370063450	chr4:100870405-100870406	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
32	rs374654880	chr4:100870413-100870414	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
33	rs147202119	chr4:100870436-100870437	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
34	rs539136134	chr4:100870451-100870452	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
35	rs553719493	chr4:100870466-100870467	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
36	rs11554381	chr4:100870481-100870482	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
37	rs11554383	chr4:100870485-100870486	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
38	rs140487187	chr4:100870511-100870512	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
39	rs11554385	chr4:100870524-100870525	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
40	rs199573896	chr4:100870573-100870574	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
41	rs539248769	chr4:100870574-100870575	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
42	rs201831158	chr4:100870581-100870582	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
43	rs575739939	chr4:100870584-100870585	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
44	rs200598187	chr4:100870585-100870586	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
45	rs369008608	chr4:100870588-100870589	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
46	rs373436350	chr4:100870592-100870593	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
47	rs377735103	chr4:100870594-100870595	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
48	rs78032150	chr4:100870607-100870608	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
49	rs572916303	chr4:100870611-100870612	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
50	rs138869217	chr4:100870643-100870644	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 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:374 , 50 per page) page: 1 2 3 4 5 6 7 8

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	chr4:100868400-100869800	Enhancers	Fetal Brain Male	brain
8	chr4:100868400-100869800	Genic enhancers	Fetal Lung	lung
9	chr4:100868400-100870000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:100868400-100870000	Weak transcription	Esophagus	oesophagus
11	chr4:100868400-100870000	Enhancers	Fetal Heart	heart
12	chr4:100868400-100870000	Weak transcription	Left Ventricle	heart
13	chr4:100868400-100870000	Weak transcription	Ovary	ovary
14	chr4:100868400-100870000	Weak transcription	Spleen	Spleen
15	chr4:100868400-100870200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
16	chr4:100868400-100870200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
17	chr4:100868400-100870200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:100868400-100870200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
19	chr4:100868400-100870200	Transcr. at gene 5' and 3'	K562	blood
20	chr4:100868400-100870400	Weak transcription	Lung	lung
21	chr4:100868400-100870400	Weak transcription	Small Intestine	intestine
22	chr4:100868400-100870400	Transcr. at gene 5' and 3'	NHEK	skin
23	chr4:100868400-100870800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
24	chr4:100868400-100870800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
25	chr4:100868600-100869800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:100868600-100869800	Genic enhancers	Primary T cells fromperipheralblood	blood
27	chr4:100868600-100869800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr4:100868600-100869800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr4:100868600-100869800	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:100868600-100869800	Weak transcription	HSMMtube	muscle
31	chr4:100868600-100869800	Genic enhancers	Osteobl	bone
32	chr4:100868600-100870000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:100868600-100870000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:100868600-100870000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
35	chr4:100868600-100870000	Genic enhancers	Primary B cells from peripheral blood	blood
36	chr4:100868600-100870000	Enhancers	Primary hematopoietic stem cells	blood
37	chr4:100868600-100870000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
38	chr4:100868600-100870000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:100868600-100870000	Weak transcription	Brain Angular Gyrus	brain
40	chr4:100868600-100870000	Enhancers	Brain Substantia Nigra	brain
41	chr4:100868600-100870000	Enhancers	Colon Smooth Muscle	Colon
42	chr4:100868600-100870000	Weak transcription	Gastric	stomach
43	chr4:100868600-100870000	Weak transcription	Pancreas	Pancrea
44	chr4:100868600-100870000	Weak transcription	Psoas Muscle	Psoas
45	chr4:100868600-100870000	Weak transcription	Right Atrium	heart
46	chr4:100868600-100870000	Weak transcription	Right Ventricle	heart
47	chr4:100868600-100870200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:100868600-100870200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
49	chr4:100868600-100870200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
50	chr4:100868600-100870200	Transcr. at gene 5' and 3'	Hela-S3	cervix

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