Variant report

Variant	esv3406336
Chromosome Location	chr4:1106152-1107750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:1107126-1107605	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr4:1107251-1107567	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr4:1107286-1107524	Hela-S3	cervix:	n/a	n/a
4	CHD2	chr4:1107089-1107606	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD2	chr4:1107172-1107723	Hela-S3	cervix:	n/a	n/a
6	E2F6	chr4:1106984-1107740	A549	lung:	n/a	chr4:1107351-1107360 chr4:1107568-1107577 chr4:1107402-1107414
7	E2F6	chr4:1107066-1107636	Hela-S3	cervix:	n/a	chr4:1107351-1107360 chr4:1107568-1107577 chr4:1107402-1107414
8	E2F6	chr4:1106952-1107864	H1-hESC	embryonic stem cell:	n/a	chr4:1107351-1107360 chr4:1107568-1107577 chr4:1107402-1107414
9	E2F6	chr4:1106885-1107844	H1-hESC	embryonic stem cell:	n/a	chr4:1107351-1107360 chr4:1107568-1107577 chr4:1107402-1107414
10	E2F6	chr4:1107002-1107816	A549	lung:	n/a	chr4:1107351-1107360 chr4:1107568-1107577 chr4:1107402-1107414
11	GABPA	chr4:1107039-1107672	H1-hESC	embryonic stem cell:	n/a	chr4:1107375-1107389 chr4:1107568-1107577 chr4:1107347-1107361 chr4:1107352-1107361 chr4:1107350-1107361 chr4:1107378-1107392 chr4:1107350-1107364 chr4:1107570-1107579
12	GTF2F1	chr4:1107080-1107580	H1-hESC	embryonic stem cell:	n/a	n/a
13	HA-E2F1	chr4:1107200-1107652	Hela-S3	cervix:	n/a	chr4:1107351-1107360 chr4:1107568-1107577 chr4:1107402-1107414
14	JUND	chr4:1107411-1107511	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr4:1107004-1107640	SK-N-SH	brain:	n/a	chr4:1107035-1107044 chr4:1107037-1107046 chr4:1107038-1107045
16	MAX	chr4:1107002-1107592	A549	lung:	n/a	chr4:1107035-1107044 chr4:1107037-1107046 chr4:1107038-1107045
17	MAX	chr4:1107011-1107767	A549	lung:	n/a	chr4:1107035-1107044 chr4:1107645-1107655 chr4:1107755-1107764 chr4:1107037-1107046 chr4:1107038-1107045
18	MAX	chr4:1107042-1107619	Hela-S3	cervix:	n/a	n/a
19	MAX	chr4:1106901-1107793	H1-hESC	embryonic stem cell:	n/a	chr4:1107035-1107044 chr4:1107645-1107655 chr4:1107755-1107764 chr4:1107037-1107046 chr4:1107038-1107045
20	MAX	chr4:1107018-1107613	H1-hESC	embryonic stem cell:	n/a	chr4:1107035-1107044 chr4:1107037-1107046 chr4:1107038-1107045
21	MAX	chr4:1107011-1107753	A549	lung:	n/a	chr4:1107035-1107044 chr4:1107645-1107655 chr4:1107037-1107046 chr4:1107038-1107045
22	MAX	chr4:1106921-1107795	H1-hESC	embryonic stem cell:	n/a	chr4:1107035-1107044 chr4:1107645-1107655 chr4:1107755-1107764 chr4:1107037-1107046 chr4:1107038-1107045
23	MAX	chr4:1107001-1107674	SK-N-SH	brain:	n/a	chr4:1107035-1107044 chr4:1107645-1107655 chr4:1107037-1107046 chr4:1107038-1107045
24	MAZ	chr4:1107321-1107589	Hela-S3	cervix:	n/a	n/a
25	MXI1	chr4:1107303-1107574	H1-hESC	embryonic stem cell:	n/a	n/a
26	MXI1	chr4:1107360-1107418	Hela-S3	cervix:	n/a	n/a
27	MYC	chr4:1107446-1107565	H1-hESC	embryonic stem cell:	n/a	n/a
28	NRF1	chr4:1107200-1107543	Hela-S3	cervix:	n/a	chr4:1107375-1107389 chr4:1107347-1107361 chr4:1107352-1107361 chr4:1107350-1107361 chr4:1107378-1107392 chr4:1107350-1107364
29	NRF1	chr4:1107177-1107563	H1-hESC	embryonic stem cell:	n/a	chr4:1107375-1107389 chr4:1107347-1107361 chr4:1107352-1107361 chr4:1107350-1107361 chr4:1107378-1107392 chr4:1107350-1107364
30	NRF1	chr4:1107086-1107639	SK-N-SH	brain:	n/a	chr4:1107375-1107389 chr4:1107568-1107577 chr4:1107347-1107361 chr4:1107352-1107361 chr4:1107350-1107361 chr4:1107378-1107392 chr4:1107350-1107364 chr4:1107570-1107579
31	POLR2A	chr4:1107237-1107478	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr4:1107140-1107645	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr4:1107196-1107513	A549	lung:	n/a	n/a
34	POLR2A	chr4:1107152-1107556	A549	lung:	n/a	n/a
35	POLR2A	chr4:1107248-1107259	MCF-7	breast:	n/a	n/a
36	POLR2A	chr4:1107222-1107223	MCF-7	breast:	n/a	n/a
37	POLR2A	chr4:1107048-1107571	SK-N-MC	brain:	n/a	n/a
38	POLR2A	chr4:1107348-1107563	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr4:1107109-1107275	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr4:1107243-1107603	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr4:1107219-1107548	GM12878	blood:	n/a	n/a
42	POLR2A	chr4:1107246-1107575	A549	lung:	n/a	n/a
43	POLR2A	chr4:1107147-1107576	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr4:1107140-1107607	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr4:1107184-1107659	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr4:1107139-1107583	A549	lung:	n/a	n/a
47	POLR2A	chr4:1107227-1107235	MCF-7	breast:	n/a	n/a
48	POLR2A	chr4:1107195-1107601	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr4:1107480-1107520	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr4:1107236-1107239	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1107495-1107545	BE2_C	brain:	n/a
2	chr4:1107706-1107756	LNCaP	prostate:	n/a
3	chr4:1107720-1107770	ovcar-3	ovarian:	n/a
4	chr4:1107585-1107635	HIPEpiC	eye:	n/a
5	chr4:1107495-1107545	HPAEpiC	pulmonary alveolar:	n/a
6	chr4:1107259-1107309	SK-N-SH	brain:	n/a
7	chr4:1107585-1107635	H1-hESC	embryonic stem cell:	embryo
8	chr4:1107259-1107309	NHBE	bronchial:	n/a
9	chr4:1107720-1107770	HRPEpiC	eye:	n/a
10	chr4:1107202-1107252	GM12892	blood:	n/a
11	chr4:1107259-1107309	AG09309	skin:	n/a
12	chr4:1107202-1107252	K562	blood:	n/a
13	chr4:1107512-1107562	T-47D	breast:	n/a
14	chr4:1107585-1107635	AG10803	skin:	n/a
15	chr4:1107259-1107309	PFSK-1	brain:	n/a
16	chr4:1107259-1107309	MCF-7	breast:	n/a
17	chr4:1107495-1107545	RPTEC	kidney:	n/a
18	chr4:1107720-1107770	ECC-1	luminal epithelium:	n/a
19	chr4:1107720-1107770	SK-N-SH_RA	brain:	n/a
20	chr4:1107706-1107756	GM12892	blood:	n/a
21	chr4:1107585-1107635	Jurkat	blood:	n/a
22	chr4:1107259-1107309	HIPEpiC	eye:	n/a
23	chr4:1107706-1107756	HAEpiC	amniotic membrane:	n/a
24	chr4:1107706-1107756	HRPEpiC	eye:	n/a
25	chr4:1107512-1107562	PrEC	prostate:	n/a
26	chr4:1107585-1107635	PrEC	prostate:	n/a
27	chr4:1107585-1107635	ECC-1	luminal epithelium:	n/a
28	chr4:1107495-1107545	K562	blood:	n/a
29	chr4:1107706-1107756	T-47D	breast:	n/a
30	chr4:1107512-1107562	MCF-7	breast:	n/a
31	chr4:1107706-1107756	AG04450	lung:	fetal
32	chr4:1107706-1107756	PrEC	prostate:	n/a
33	chr4:1107495-1107545	ECC-1	luminal epithelium:	n/a
34	chr4:1107202-1107252	HRE	kidney:	n/a
35	chr4:1107259-1107309	A549	lung:	n/a
36	chr4:1107512-1107562	BJ	skin:	n/a
37	chr4:1107720-1107770	GM12891	blood:	n/a
38	chr4:1107706-1107756	AG09319	gingival:	n/a
39	chr4:1107706-1107756	SK-N-SH_RA	brain:	n/a
40	chr4:1107585-1107635	HAEpiC	amniotic membrane:	n/a
41	chr4:1107495-1107545	HEEpiC	esophagus:	n/a
42	chr4:1107706-1107756	HMEC	breast:	n/a
43	chr4:1107512-1107562	IMR90	lung:	fetal
44	chr4:1107202-1107252	SAEC	small airway:	n/a
45	chr4:1107495-1107545	Hela-S3	cervix:	n/a
46	chr4:1107720-1107770	HRE	kidney:	n/a
47	chr4:1107706-1107756	CMK	blood:	n/a
48	chr4:1107585-1107635	GM12891	blood:	n/a
49	chr4:1107585-1107635	Hepatocyte	liver:	n/a
50	chr4:1107706-1107756	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:1104788..1106753-chr4:1236973..1238872,2	K562	blood:
2	chr4:1103766..1108037-chr4:1241801..1244610,3	K562	blood:
3	chr4:1106466..1109450-chr4:1112409..1114063,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FGFRL1-4	chr4:1107427-1107540	ENSG00000251652.1

Variant related genes	Relation type
RNF212	TF binding region
ENSG00000251652	TF binding region
ENSG00000212458	TF binding region
RNF212	CpG island
ENSG00000251652	CpG island
ENSG00000212458	CpG island
ENSG00000196810	chromatin interactions
ENSG00000212458	chromatin interactions
ENSG00000159692	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537137630	chr4:1106186-1106187	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs145764708	chr4:1106259-1106260	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs559723166	chr4:1106278-1106279	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs75881267	chr4:1106332-1106333	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs34169869	chr4:1106394-1106395	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs551628386	chr4:1106425-1106426	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs529105560	chr4:1106476-1106477	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs374564704	chr4:1106493-1106494	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs112611497	chr4:1106560-1106561	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs10049610	chr4:1106612-1106613	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs10050240	chr4:1106615-1106616	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs10050241	chr4:1106625-1106626	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs563353957	chr4:1106739-1106740	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs111216168	chr4:1106775-1106776	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs548674218	chr4:1106776-1106777	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs548356874	chr4:1106861-1106862	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs111155337	chr4:1106894-1106895	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs567255987	chr4:1106960-1106961	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs535732452	chr4:1106993-1106994	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs547676862	chr4:1106994-1106995	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs566080086	chr4:1107039-1107040	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs371907074	chr4:1107042-1107043	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs539623536	chr4:1107056-1107057	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs557964438	chr4:1107076-1107077	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs113708827	chr4:1107100-1107101	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs370399772	chr4:1107102-1107103	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs370216464	chr4:1107130-1107131	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs373243869	chr4:1107132-1107133	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs188658198	chr4:1107149-1107150	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs375409179	chr4:1107153-1107154	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs375249286	chr4:1107172-1107173	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs573990798	chr4:1107173-1107174	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs375947137	chr4:1107185-1107186	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs201230381	chr4:1107200-1107201	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs370590742	chr4:1107226-1107227	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs78978823	chr4:1107245-1107246	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs192989269	chr4:1107264-1107265	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs11728360	chr4:1107278-1107279	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs367810629	chr4:1107281-1107282	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs563520389	chr4:1107293-1107294	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs530475339	chr4:1107294-1107295	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs148945469	chr4:1107316-1107317	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs372230431	chr4:1107326-1107327	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs560862073	chr4:1107367-1107368	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs11736950	chr4:1107376-1107377	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs55741543	chr4:1107389-1107390	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs375917351	chr4:1107421-1107422	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs566018639	chr4:1107425-1107426	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs533463640	chr4:1107426-1107427	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs143700023	chr4:1107435-1107436	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1104200-1107200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:1104400-1107000	Weak transcription	A549	lung
3	chr4:1104600-1109600	Weak transcription	Fetal Kidney	kidney
4	chr4:1105600-1106400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:1105600-1107200	Weak transcription	HMEC	breast
6	chr4:1105800-1106400	Bivalent Enhancer	Brain Hippocampus Middle	brain
7	chr4:1106000-1106200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:1106000-1106200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:1106000-1106200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
10	chr4:1106000-1106200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr4:1106000-1106200	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr4:1106000-1106200	Enhancers	Pancreas	Pancrea
13	chr4:1106000-1106200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
14	chr4:1106000-1106400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:1106000-1106400	Enhancers	Brain Anterior Caudate	brain
16	chr4:1106000-1106400	Flanking Active TSS	Ovary	ovary
17	chr4:1106000-1107200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:1106000-1108400	Active TSS	Hela-S3	cervix
19	chr4:1106200-1106400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr4:1106200-1106400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:1106200-1106400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
22	chr4:1106200-1106400	Flanking Active TSS	Pancreas	Pancrea
23	chr4:1106200-1106400	Enhancers	Rectal Smooth Muscle	rectum
24	chr4:1106200-1106400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr4:1106200-1108200	Enhancers	Primary B cells from peripheral blood	blood
26	chr4:1106400-1106600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:1106400-1106600	Enhancers	Pancreas	Pancrea
28	chr4:1106400-1107200	Weak transcription	Brain Anterior Caudate	brain
29	chr4:1106400-1108000	Active TSS	Ovary	ovary
30	chr4:1106600-1107000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:1106600-1107000	Weak transcription	Pancreas	Pancrea
32	chr4:1106800-1107000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr4:1107000-1107200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
34	chr4:1107000-1107200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:1107000-1107200	Enhancers	Esophagus	oesophagus
36	chr4:1107000-1107200	Enhancers	Pancreas	Pancrea
37	chr4:1107000-1107200	Bivalent Enhancer	Spleen	Spleen
38	chr4:1107000-1107400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr4:1107000-1107400	Active TSS	Lung	lung
40	chr4:1107000-1107600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr4:1107000-1107600	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
42	chr4:1107000-1107600	Bivalent/Poised TSS	Adipose Nuclei	Adipose
43	chr4:1107000-1107600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
44	chr4:1107000-1107600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
45	chr4:1107000-1107600	Bivalent/Poised TSS	HSMM	muscle
46	chr4:1107000-1107800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr4:1107000-1107800	Active TSS	Small Intestine	intestine
48	chr4:1107000-1107800	Bivalent/Poised TSS	Thymus	Thymus
49	chr4:1107000-1107800	Active TSS	A549	lung
50	chr4:1107000-1108000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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