Variant report

Variant	rs531729381
Chromosome Location	chr1:187446076-187446077
allele	G/T
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	CTCF	chr1:187445731-187446116	MCF-7	breast:	n/a	chr1:187445982-187446000 chr1:187445984-187446005
2	CTCF	chr1:187445940-187446090	RPTEC	kidney:	n/a	chr1:187445982-187446000 chr1:187445984-187446005
3	CTCF	chr1:187445980-187446130	NHDF-neo	bronchial:	n/a	chr1:187445982-187446000 chr1:187445984-187446005
4	CTCF	chr1:187446020-187446170	HCM	heart:	n/a	n/a
5	CTCF	chr1:187445940-187446090	HRE	kidney:	n/a	chr1:187445982-187446000 chr1:187445984-187446005
6	CTCF	chr1:187445812-187446156	GM12878	blood:	n/a	chr1:187445982-187446000 chr1:187445984-187446005
7	CTCF	chr1:187445940-187446090	HPF	lung:	n/a	chr1:187445982-187446000 chr1:187445984-187446005
8	RAD21	chr1:187445803-187446144	ECC-1	luminal epithelium:	n/a	chr1:187445983-187446002
9	RAD21	chr1:187445719-187446251	MCF-7	breast:	n/a	chr1:187445983-187446002
10	RAD21	chr1:187445807-187446099	HepG2	liver:	n/a	chr1:187445983-187446002
11	CTCF	chr1:187445873-187446076	Hela-S3	cervix:	n/a	chr1:187445982-187446000 chr1:187445984-187446005
12	RAD21	chr1:187445726-187446205	MCF-7	breast:	n/a	chr1:187445983-187446002
13	SMC3	chr1:187445772-187446162	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr1:187445883-187446078	H1-hESC	embryonic stem cell:	n/a	chr1:187445982-187446000 chr1:187445984-187446005
15	CTCF	chr1:187445940-187446090	HCFaa	heart:	n/a	chr1:187445982-187446000 chr1:187445984-187446005
16	RAD21	chr1:187445795-187446240	SK-N-SH_RA	brain:	n/a	chr1:187445983-187446002
17	RAD21	chr1:187445709-187446200	A549	lung:	n/a	chr1:187445983-187446002
18	CTCF	chr1:187445845-187446156	K562	blood:	n/a	chr1:187445982-187446000 chr1:187445984-187446005
19	CTCF	chr1:187445835-187446109	HUVEC	blood vessel:	n/a	chr1:187445982-187446000 chr1:187445984-187446005
20	STAT3	chr1:187446010-187446206	MCF10A-Er-Src	breast:	n/a	chr1:187446094-187446101
21	RAD21	chr1:187445735-187446308	HCT-116	colon:	n/a	chr1:187445983-187446002
22	CTCF	chr1:187445839-187446097	Medullo	brain:	n/a	chr1:187445982-187446000 chr1:187445984-187446005
23	RAD21	chr1:187445800-187446318	Hela-S3	cervix:	n/a	chr1:187445983-187446002
24	RAD21	chr1:187445797-187446214	ECC-1	luminal epithelium:	n/a	chr1:187445983-187446002
25	RAD21	chr1:187445618-187446538	SK-N-SH	brain:	n/a	chr1:187445983-187446002
26	CTCF	chr1:187445940-187446090	HCT-116	colon:	n/a	chr1:187445982-187446000 chr1:187445984-187446005
27	CTCF	chr1:187445714-187446544	SK-N-SH	brain:	n/a	chr1:187445982-187446000 chr1:187445984-187446005
28	CTCF	chr1:187445742-187446256	MCF-7	breast:	n/a	chr1:187445982-187446000 chr1:187445984-187446005
29	CTCF	chr1:187445940-187446090	MCF-7	breast:	n/a	chr1:187445982-187446000 chr1:187445984-187446005
30	CTCF	chr1:187445940-187446090	Caco-2	colon:	n/a	chr1:187445982-187446000 chr1:187445984-187446005
31	CTCF	chr1:187446000-187446150	BE2_C	brain:	n/a	n/a
32	RAD21	chr1:187445810-187446136	SK-N-SH_RA	brain:	n/a	chr1:187445983-187446002
33	RAD21	chr1:187445803-187446109	H1-hESC	embryonic stem cell:	n/a	chr1:187445983-187446002
34	RAD21	chr1:187445826-187446143	H1-hESC	embryonic stem cell:	n/a	chr1:187445983-187446002
35	RAD21	chr1:187445706-187446211	HCT-116	colon:	n/a	chr1:187445983-187446002
36	RAD21	chr1:187445818-187446177	H1-hESC	embryonic stem cell:	n/a	chr1:187445983-187446002
37	RAD21	chr1:187445785-187446229	IMR90	lung:	n/a	chr1:187445983-187446002
38	CTCF	chr1:187445940-187446090	HVMF	connective:	n/a	chr1:187445982-187446000 chr1:187445984-187446005
39	CTCF	chr1:187445791-187446173	IMR90	lung:	n/a	chr1:187445982-187446000 chr1:187445984-187446005
40	RAD21	chr1:187445868-187446162	A549	lung:	n/a	chr1:187445983-187446002
41	CTCF	chr1:187445744-187446151	HCT-116	colon:	n/a	chr1:187445982-187446000 chr1:187445984-187446005
42	CTCF	chr1:187445960-187446110	HBMEC	blood vessel:	n/a	chr1:187445982-187446000 chr1:187445984-187446005

No.	Distal block	Cell Line	Cell type
1	chr1:187445527..187446417-chr1:187482131..187482720,2	MCF-7	breast:
2	chr1:187445440..187446428-chr1:187968865..187969402,5	MCF-7	breast:
3	chr1:187234168..187234815-chr1:187445615..187446278,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLA2G4A-2	chr1:187443288-187449968	NONHSAT008463

Variant related genes	Relation type
ENSG00000272827	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv492108	chr1:186969793-187745761	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv999634	chr1:186979839-187759289	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv535225	chr1:186979839-187759289	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv2750817	chr1:187070355-187989594	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1000513	chr1:187295282-187540052	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv535227	chr1:187295282-187540052	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1003635	chr1:187309243-187591203	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1008766	chr1:187412042-187467969	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
10	esv2756261	chr1:187418625-187923276	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	esv1807726	chr1:187445049-187466401	Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:187439400-187446200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:187439400-187446400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:187441000-187446200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:187444000-187446200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:187444000-187446200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:187444200-187446200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:187445400-187450600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:187445800-187447200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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