Variant report

Variant	esv19829
Chromosome Location	chr4:100870803-100871423
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:661)
CpG islands
(count:122)
Chromatin interactive
region (count:53)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:661 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:100870105-100870851	K562	blood:	n/a	chr4:100870611-100870619 chr4:100870840-100870848
2	ARID3A	chr4:100871309-100872067	HepG2	liver:	n/a	n/a
3	ATF2	chr4:100871128-100871653	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr4:100869900-100871025	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr4:100869939-100870983	GM12878	blood:	n/a	n/a
6	ATF2	chr4:100871070-100871599	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr4:100871090-100872118	GM12878	blood:	n/a	n/a
8	ATF2	chr4:100869887-100870874	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr4:100871121-100871599	A549	lung:	n/a	n/a
10	ATF3	chr4:100871195-100871623	K562	blood:	n/a	n/a
11	BACH1	chr4:100869922-100870906	K562	blood:	n/a	n/a
12	BACH1	chr4:100870166-100871420	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr4:100871187-100871533	GM12878	blood:	n/a	n/a
14	BCL3	chr4:100871068-100871552	A549	lung:	n/a	n/a
15	BCL3	chr4:100871169-100871628	A549	lung:	n/a	n/a
16	BCL3	chr4:100871153-100871917	GM12878	blood:	n/a	n/a
17	BCLAF1	chr4:100870022-100871053	K562	blood:	n/a	n/a
18	BCLAF1	chr4:100871070-100871566	K562	blood:	n/a	n/a
19	BCLAF1	chr4:100871104-100871558	GM12878	blood:	n/a	n/a
20	BCLAF1	chr4:100871066-100871556	GM12878	blood:	n/a	n/a
21	BHLHE40	chr4:100871211-100872296	HepG2	liver:	n/a	n/a
22	BHLHE40	chr4:100871205-100872262	GM12878	blood:	n/a	n/a
23	BHLHE40	chr4:100870157-100870997	GM12878	blood:	n/a	n/a
24	BHLHE40	chr4:100870102-100872513	K562	blood:	n/a	n/a
25	BRCA1	chr4:100871265-100871485	GM12878	blood:	n/a	n/a
26	BRCA1	chr4:100870187-100870937	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr4:100871272-100871899	H1-hESC	embryonic stem cell:	n/a	n/a
28	BRCA1	chr4:100870802-100870816	GM12878	blood:	n/a	n/a
29	BRCA1	chr4:100871228-100871573	HepG2	liver:	n/a	n/a
30	BRCA1	chr4:100871280-100871880	Hela-S3	cervix:	n/a	n/a
31	CBX3	chr4:100871092-100872242	K562	blood:	n/a	n/a
32	CBX3	chr4:100871205-100871555	K562	blood:	n/a	n/a
33	CBX3	chr4:100870010-100870993	K562	blood:	n/a	n/a
34	CCNT2	chr4:100870202-100872058	K562	blood:	n/a	n/a
35	CEBPB	chr4:100869984-100870852	K562	blood:	n/a	chr4:100870347-100870358
36	CEBPB	chr4:100869948-100870937	HCT-116	colon:	n/a	chr4:100870347-100870358
37	CEBPB	chr4:100871180-100871633	K562	blood:	n/a	chr4:100871551-100871559
38	CEBPB	chr4:100870117-100870813	Hela-S3	cervix:	n/a	chr4:100870347-100870358
39	CEBPB	chr4:100871117-100871654	ECC-1	luminal epithelium:	n/a	chr4:100871551-100871559
40	CEBPB	chr4:100871282-100871624	HepG2	liver:	n/a	chr4:100871551-100871559
41	CEBPB	chr4:100869963-100870897	K562	blood:	n/a	chr4:100870347-100870358
42	CEBPB	chr4:100871102-100871642	GM12878	blood:	n/a	chr4:100871551-100871559
43	CEBPB	chr4:100871252-100872560	Hela-S3	cervix:	n/a	chr4:100871551-100871559
44	CEBPD	chr4:100870073-100871004	K562	blood:	n/a	n/a
45	CEBPD	chr4:100871152-100871636	HepG2	liver:	n/a	n/a
46	CEBPD	chr4:100871081-100871832	K562	blood:	n/a	n/a
47	CEBPD	chr4:100871269-100871539	HepG2	liver:	n/a	n/a
48	CHD1	chr4:100869784-100871565	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD1	chr4:100869993-100872188	GM12878	blood:	n/a	n/a
50	CHD2	chr4:100870139-100871992	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:100871150-100871200	CMK	blood:	n/a
2	chr4:100871150-100871200	PFSK-1	brain:	n/a
3	chr4:100871150-100871200	NH-A	brain:	n/a
4	chr4:100871150-100871200	HepG2	liver:	n/a
5	chr4:100871315-100871365	PFSK-1	brain:	n/a
6	chr4:100871315-100871365	K562	blood:	n/a
7	chr4:100871315-100871365	AG09309	skin:	n/a
8	chr4:100871150-100871200	T-47D	breast:	n/a
9	chr4:100871150-100871200	ovcar-3	ovarian:	n/a
10	chr4:100871150-100871200	HEEpiC	esophagus:	n/a
11	chr4:100871150-100871200	AG09309	skin:	n/a
12	chr4:100871150-100871200	MCF10A-Er-Src	breast:	n/a
13	chr4:100871315-100871365	BE2_C	brain:	n/a
14	chr4:100871315-100871365	Jurkat	blood:	n/a
15	chr4:100871315-100871365	T-47D	breast:	n/a
16	chr4:100871315-100871365	A549	lung:	n/a
17	chr4:100871150-100871200	SAEC	small airway:	n/a
18	chr4:100871315-100871365	HCM	heart:	n/a
19	chr4:100871150-100871200	AG10803	skin:	n/a
20	chr4:100871315-100871365	ovcar-3	ovarian:	n/a
21	chr4:100871315-100871365	HEK293	kidney:	embryo
22	chr4:100871315-100871365	HEEpiC	esophagus:	n/a
23	chr4:100871315-100871365	AoSMC	blood vessel:	n/a
24	chr4:100871150-100871200	Hepatocyte	liver:	n/a
25	chr4:100871315-100871365	HNPCEpiC	eye:	n/a
26	chr4:100871315-100871365	MCF-7	breast:	n/a
27	chr4:100871150-100871200	AoSMC	blood vessel:	n/a
28	chr4:100871150-100871200	AG09319	gingival:	n/a
29	chr4:100871315-100871365	GM12892	blood:	n/a
30	chr4:100871150-100871200	SKMC	muscle:	n/a
31	chr4:100871150-100871200	PANC-1	pancreas:	n/a
32	chr4:100871315-100871365	HAEpiC	amniotic membrane:	n/a
33	chr4:100871315-100871365	SAEC	small airway:	n/a
34	chr4:100871150-100871200	BE2_C	brain:	n/a
35	chr4:100871150-100871200	Hela-S3	cervix:	n/a
36	chr4:100871150-100871200	SK-N-SH	brain:	n/a
37	chr4:100871315-100871365	SK-N-SH	brain:	n/a
38	chr4:100871315-100871365	HCF	heart:	n/a
39	chr4:100871150-100871200	GM12892	blood:	n/a
40	chr4:100871315-100871365	AG04450	lung:	fetal
41	chr4:100871315-100871365	HPAEpiC	pulmonary alveolar:	n/a
42	chr4:100871315-100871365	Caco-2	colon:	n/a
43	chr4:100871315-100871365	HRPEpiC	eye:	n/a
44	chr4:100871315-100871365	GM06990	blood:	n/a
45	chr4:100871150-100871200	ProgFib	skin:	n/a
46	chr4:100871150-100871200	HRPEpiC	eye:	n/a
47	chr4:100871315-100871365	NHDF-neo	bronchial:	n/a
48	chr4:100871315-100871365	CMK	blood:	n/a
49	chr4:100871150-100871200	NB4	blood:	n/a
50	chr4:100871150-100871200	HRE	kidney:	n/a

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:100869091..100871239-chr4:103351380..103353176,2	K562	blood:
2	chr12:50135277..50135820-chr4:100870509..100871438,2	Hela-S3	cervix:
3	chr4:100480938..100486909-chr4:100867873..100873651,15	K562	blood:
4	chr4:100784573..100786137-chr4:100870218..100872755,2	K562	blood:
5	chr4:100869383..100871934-chr4:102267599..102271042,3	K562	blood:
6	chr4:100870905..100871510-chr5:115176773..115177440,2	NB4	blood:
7	chr4:100856020..100858032-chr4:100868560..100871073,2	K562	blood:
8	chr4:99915636..99917371-chr4:100869943..100872361,4	K562	blood:
9	chr4:100869528..100871186-chr4:107235611..107237116,2	K562	blood:
10	chr11:60928578..60929452-chr4:100871222..100871899,2	Hela-S3	cervix:
11	chr17:11923049..11926004-chr4:100870025..100871677,2	MCF-7	breast:
12	chr1:209957820..209958586-chr4:100871003..100871812,2	Hela-S3	cervix:
13	chr4:100871315..100874297-chr4:103746830..103749271,3	K562	blood:
14	chr4:99917543..99919718-chr4:100869895..100871909,3	K562	blood:
15	chr4:100869660..100871292-chr4:129732222..129733752,2	K562	blood:
16	chr18:3594416..3594966-chr4:100870767..100871374,2	Hela-S3	cervix:
17	chr4:100810623..100827791-chr4:100865444..100874425,55	K562	blood:
18	chr4:100814600..100817376-chr4:100869817..100872742,4	MCF-7	breast:
19	chr4:100871249..100872202-chr9:19230443..19231402,2	Hela-S3	cervix:
20	chr4:99850379..99851880-chr4:100869996..100872136,2	K562	blood:
21	chr15:40886023..40886562-chr4:100871091..100871607,2	Hela-S3	cervix:
22	chr4:100009534..100010241-chr4:100870932..100871664,2	NB4	blood:
23	chr10:102825899..102826450-chr4:100871390..100872178,2	Hela-S3	cervix:
24	chr4:100483327..100486538-chr4:100869980..100873651,6	K562	blood:
25	chr1:148241097..148242092-chr4:100871015..100871613,2	Hela-S3	cervix:
26	chr17:79280417..79282564-chr4:100871183..100873116,2	MCF-7	breast:
27	chr4:100813266..100817175-chr4:100865527..100871657,11	MCF-7	breast:
28	chr21:46237469..46238317-chr4:100870908..100871458,2	Hela-S3	cervix:
29	chr4:76597989..76600371-chr4:100870169..100871877,2	K562	blood:
30	chr4:100799869..100822436-chr4:100866015..100873106,54	K562	blood:
31	chr19:751070..751830-chr4:100870953..100871942,2	Hela-S3	cervix:
32	chr3:73160104..73161068-chr4:100870920..100871540,2	Hela-S3	cervix:
33	chr4:100850716..100855335-chr4:100865818..100872882,15	K562	blood:
34	chr4:100870517..100873586-chr4:103747603..103750269,4	K562	blood:
35	chr14:103058428..103059398-chr4:100870932..100871754,2	NB4	blood:
36	chr4:100840471..100849591-chr4:100866268..100873122,18	K562	blood:
37	chr4:100483953..100487087-chr4:100868908..100871675,3	MCF-7	breast:
38	chr4:99848722..99851880-chr4:100870275..100872713,4	K562	blood:
39	chr4:99848589..99851336-chr4:100870396..100872880,2	MCF-7	breast:
40	chr4:100737053..100739337-chr4:100869822..100871487,2	K562	blood:
41	chr16:75283952..75284833-chr4:100870945..100871827,2	Hela-S3	cervix:
42	chr4:100784573..100786604-chr4:100870218..100872169,2	K562	blood:
43	chr4:100737796..100739417-chr4:100869938..100872690,3	MCF-7	breast:
44	chr19:899198..902071-chr4:100869985..100872075,2	K562	blood:
45	chr4:100483475..100486481-chr4:100870338..100872441,3	MCF-7	breast:
46	chr13:91999673..92001318-chr4:100870740..100872493,2	K562	blood:
47	chr19:1269051..1269796-chr4:100870870..100871604,2	Hela-S3	cervix:
48	chr4:100870088..100872119-chr4:103789876..103793001,3	K562	blood:
49	chr4:100869894..100871447-chr4:100910758..100913096,2	K562	blood:
50	chr4:99915655..99920524-chr4:100869895..100872849,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DAPP1-1	chr4:100871163-100871385	ENSG00000245322.2

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
ENSG00000138821	chromatin interactions
ENSG00000109270	chromatin interactions
ENSG00000198858	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000254531	chromatin interactions
ENSG00000139644	chromatin interactions
ENSG00000164024	chromatin interactions
ENSG00000246090	chromatin interactions
ENSG00000077684	chromatin interactions
ENSG00000151247	chromatin interactions
ENSG00000263923	chromatin interactions
ENSG00000089902	chromatin interactions
ENSG00000185168	chromatin interactions
ENSG00000167987	chromatin interactions
ENSG00000145331	chromatin interactions
ENSG00000207501	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000197894	chromatin interactions
ENSG00000250403	chromatin interactions
ENSG00000164031	chromatin interactions
ENSG00000215417	chromatin interactions
ENSG00000241185	chromatin interactions
ENSG00000145782	chromatin interactions
ENSG00000238449	chromatin interactions
ENSG00000246560	chromatin interactions
ENSG00000248161	chromatin interactions
ENSG00000107821	chromatin interactions
ENSG00000137812	chromatin interactions
ENSG00000099622	chromatin interactions
ENSG00000177337	chromatin interactions
ENSG00000138823	chromatin interactions
ENSG00000065559	chromatin interactions
ENSG00000137145	chromatin interactions
ENSG00000197956	chromatin interactions
ENSG00000050820	chromatin interactions
ENSG00000164022	chromatin interactions
ENSG00000109332	chromatin interactions
ENSG00000145354	chromatin interactions
ENSG00000138814	chromatin interactions
ENSG00000070190	chromatin interactions
ENSG00000177879	chromatin interactions
ENSG00000138757	chromatin interactions
ENSG00000162757	chromatin interactions
ENSG00000265213	chromatin interactions
ENSG00000099812	chromatin interactions

Extended variants
information (count: 43 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11554389	chr4:100870844-100870845	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	30 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11554382	chr4:100870853-100870854	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
3	rs11554388	chr4:100870870-100870871	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
4	rs11554387	chr4:100870873-100870874	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
5	rs11554384	chr4:100870890-100870891	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
6	rs113550334	chr4:100870899-100870900	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
7	rs113809400	chr4:100870900-100870901	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
8	rs369466140	chr4:100870902-100870903	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
9	rs199997351	chr4:100870904-100870905	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
10	rs200739517	chr4:100870910-100870911	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
11	rs202074505	chr4:100870913-100870914	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
12	rs374372807	chr4:100870926-100870927	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
13	rs112445319	chr4:100870934-100870935	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
14	rs79002079	chr4:100870940-100870941	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
15	rs528116075	chr4:100870956-100870957	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
16	rs546597390	chr4:100870977-100870978	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
17	rs571943657	chr4:100870978-100870979	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
18	rs113636272	chr4:100870986-100870987	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
19	rs28635099	chr4:100870993-100870994	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	40 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs188873635	chr4:100871007-100871008	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
21	rs557584980	chr4:100871015-100871016	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
22	rs557596719	chr4:100871030-100871031	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
23	rs62306065	chr4:100871132-100871133	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
24	rs536413402	chr4:100871150-100871151	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
25	rs73832925	chr4:100871152-100871153	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	43 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs13111286	chr4:100871164-100871165	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	Overlapped CNVs	n/a
27	rs572977819	chr4:100871198-100871199	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	Overlapped CNVs	n/a
28	rs369409983	chr4:100871207-100871208	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	43 gene(s)	Overlapped CNVs	n/a
29	rs112383138	chr4:100871217-100871218	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	43 gene(s)	Overlapped CNVs	n/a
30	rs558517179	chr4:100871220-100871221	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	43 gene(s)	Overlapped CNVs	n/a
31	rs577918139	chr4:100871222-100871223	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	44 gene(s)	Overlapped CNVs	n/a
32	rs544980949	chr4:100871245-100871246	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	42 gene(s)	Overlapped CNVs	n/a
33	rs377144974	chr4:100871292-100871293	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	43 gene(s)	Overlapped CNVs	n/a
34	rs575366571	chr4:100871297-100871298	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	42 gene(s)	Overlapped CNVs	n/a
35	rs542816803	chr4:100871303-100871304	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	42 gene(s)	Overlapped CNVs	n/a
36	rs560995494	chr4:100871360-100871361	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	Overlapped CNVs	n/a
37	rs372241950	chr4:100871372-100871373	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	42 gene(s)	Overlapped CNVs	n/a
38	rs370608688	chr4:100871377-100871378	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	41 gene(s)	Overlapped CNVs	n/a
39	rs137864981	chr4:100871381-100871382	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	41 gene(s)	Overlapped CNVs	n/a
40	rs373152482	chr4:100871384-100871385	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	41 gene(s)	Overlapped CNVs	n/a
41	rs564728683	chr4:100871407-100871408	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
42	rs532091895	chr4:100871410-100871411	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
43	rs376055860	chr4:100871413-100871414	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	43 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:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100868000-100871000	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr4:100868600-100871600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:100868600-100872200	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr4:100869000-100872400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:100869200-100872400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:100869200-100872800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:100869400-100872200	Active TSS	Brain Hippocampus Middle	brain
8	chr4:100869600-100872000	Active TSS	Fetal Brain Female	brain
9	chr4:100869600-100872200	Active TSS	NHLF	lung
10	chr4:100869600-100872400	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr4:100869600-100872400	Active TSS	NHDF-Ad	bronchial
12	chr4:100869800-100872000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr4:100869800-100872000	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr4:100869800-100872000	Active TSS	Thymus	Thymus
15	chr4:100869800-100872200	Active TSS	Fetal Intestine Small	intestine
16	chr4:100869800-100872400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:100869800-100872400	Active TSS	Fetal Intestine Large	intestine
18	chr4:100869800-100872600	Active TSS	H9 Cell Line	embryonic stem cell
19	chr4:100869800-100872600	Active TSS	Stomach Smooth Muscle	stomach
20	chr4:100869800-100872600	Active TSS	HSMMtube	muscle
21	chr4:100870000-100871000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr4:100870000-100871000	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr4:100870000-100871400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
24	chr4:100870000-100871400	Active TSS	Right Atrium	heart
25	chr4:100870000-100872400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:100870000-100872400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:100870000-100872400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:100870000-100872400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:100870000-100872400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:100870000-100872400	Active TSS	Esophagus	oesophagus
31	chr4:100870000-100872400	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr4:100870000-100872400	Active TSS	Ovary	ovary
33	chr4:100870000-100872400	Active TSS	Pancreas	Pancrea
34	chr4:100870000-100872600	Active TSS	Aorta	Aorta
35	chr4:100870000-100872600	Active TSS	Fetal Muscle Trunk	muscle
36	chr4:100870000-100872600	Active TSS	Left Ventricle	heart
37	chr4:100870000-100872600	Active TSS	Right Ventricle	heart
38	chr4:100870200-100871800	Active TSS	Placenta Amnion	Placenta Amnion
39	chr4:100870200-100872000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:100870200-100872000	Active TSS	Primary B cells from peripheral blood	blood
41	chr4:100870200-100872000	Active TSS	Primary T cells from cord blood	blood
42	chr4:100870200-100872000	Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr4:100870200-100872000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr4:100870200-100872000	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr4:100870200-100872000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr4:100870200-100872000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr4:100870200-100872000	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr4:100870200-100872000	Active TSS	Fetal Brain Male	brain
49	chr4:100870200-100872000	Active TSS	Placenta	Placenta
50	chr4:100870200-100872000	Active TSS	HMEC	breast

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