Variant report

Variant	rs13232483
Chromosome Location	chr7:26589026-26589027
allele	C/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	MAX	chr7:26588906-26589907	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr7:26589020-26589170	RPTEC	kidney:	n/a	chr7:26589092-26589100
3	YY1	chr7:26588936-26589163	HCT-116	colon:	n/a	n/a
4	CTCF	chr7:26589020-26589170	GM12872	blood:	n/a	chr7:26589092-26589100
5	CTCF	chr7:26589000-26589150	Hela-S3	cervix:	n/a	chr7:26589092-26589100
6	RAD21	chr7:26588786-26589287	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr7:26589020-26589170	HCT-116	colon:	n/a	chr7:26589092-26589100
8	RAD21	chr7:26588879-26589156	HepG2	liver:	n/a	n/a
9	RAD21	chr7:26588934-26589206	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr7:26588980-26589130	HepG2	liver:	n/a	chr7:26589092-26589100
11	SMC3	chr7:26588932-26589673	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr7:26589000-26589150	NHEK	skin:	n/a	chr7:26589092-26589100
13	CTCF	chr7:26588948-26589242	K562	blood:	n/a	chr7:26589092-26589100
14	CTCF	chr7:26589009-26589146	MCF-7	breast:	n/a	chr7:26589092-26589100
15	CTCF	chr7:26588980-26589130	HEK293	kidney:	n/a	chr7:26589092-26589100
16	CTCF	chr7:26588880-26589030	HCT-116	colon:	n/a	n/a
17	TCF12	chr7:26588934-26590129	ECC-1	luminal epithelium:	n/a	n/a
18	ZNF143	chr7:26589016-26589141	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr7:26589000-26589150	GM12871	blood:	n/a	chr7:26589092-26589100
20	RAD21	chr7:26588962-26589190	HepG2	liver:	n/a	n/a
21	NFIC	chr7:26588945-26589773	ECC-1	luminal epithelium:	n/a	n/a
22	CTCF	chr7:26589009-26589150	K562	blood:	n/a	chr7:26589092-26589100
23	CTCF	chr7:26588988-26589144	HepG2	liver:	n/a	chr7:26589092-26589100
24	YY1	chr7:26588889-26589216	ECC-1	luminal epithelium:	n/a	n/a
25	MAX	chr7:26588975-26590087	HCT-116	colon:	n/a	n/a
26	CTCF	chr7:26588960-26589110	NHEK	skin:	n/a	chr7:26589092-26589100
27	RAD21	chr7:26588977-26589133	K562	blood:	n/a	n/a
28	CTCF	chr7:26588960-26589110	NB4	blood:	n/a	chr7:26589092-26589100
29	EP300	chr7:26588966-26589759	ECC-1	luminal epithelium:	n/a	n/a
30	TFAP2C	chr7:26588984-26589837	Hela-S3	cervix:	n/a	n/a
31	MYC	chr7:26589005-26589045	K562	blood:	n/a	n/a
32	CTCF	chr7:26589000-26589150	MCF-7	breast:	n/a	chr7:26589092-26589100
33	SMARCC1	chr7:26588875-26589795	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr7:26589020-26589170	A549	lung:	n/a	chr7:26589092-26589100
35	CTCF	chr7:26588940-26589150	HRE	kidney:	n/a	chr7:26589092-26589100
36	CTCF	chr7:26589000-26589150	HepG2	liver:	n/a	chr7:26589092-26589100
37	CTCF	chr7:26588960-26589110	HRE	kidney:	n/a	chr7:26589092-26589100
38	RAD21	chr7:26589011-26589818	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr7:26589024-26589128	MCF-7	breast:	n/a	chr7:26589092-26589100
40	SMARCB1	chr7:26588866-26590632	Hela-S3	cervix:	n/a	n/a
41	YY1	chr7:26588982-26589116	K562	blood:	n/a	n/a
42	CTCF	chr7:26589020-26589170	WERI-Rb-1	eye:	n/a	chr7:26589092-26589100
43	CTCF	chr7:26588960-26589110	K562	blood:	n/a	chr7:26589092-26589100
44	TCF7L2	chr7:26588922-26589895	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr7:26589019-26589145	MCF-7	breast:	n/a	chr7:26589092-26589100

No.	Distal block	Cell Line	Cell type
1	chr7:26416529..26417384-chr7:26588868..26589443,2	MCF-7	breast:
2	chr7:26582972..26584768-chr7:26586705..26589472,2	K562	blood:
3	chr7:26586327..26589450-chr7:26590701..26593328,3	MCF-7	breast:
4	chr7:26588899..26589576-chr7:26706937..26707768,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233760	TF binding region
ENSG00000233760	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12700747	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700750	1.00[ASN][1000 genomes]
rs12700751	1.00[ASN][1000 genomes]
rs13226226	0.88[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16874129	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17153862	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs17154270	1.00[CHB][hapmap]
rs17285297	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17357184	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17357205	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17357240	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2014867	1.00[ASN][1000 genomes]
rs2107997	1.00[ASN][1000 genomes]
rs28708490	1.00[ASN][1000 genomes]
rs34100461	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34349657	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs34362204	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34396699	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34577165	0.88[EUR][1000 genomes]
rs34655544	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34714573	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34934672	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35742990	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35757731	0.82[EUR][1000 genomes]
rs71521772	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs735597	0.94[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs768715	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv830929	chr7:26587888-26749735	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26578800-26591600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr7:26582400-26592200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:26586800-26595600	Weak transcription	Fetal Kidney	kidney
4	chr7:26588000-26595000	Enhancers	Primary hematopoietic stem cells	blood
5	chr7:26588000-26596600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:26588200-26590600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:26588200-26590600	Enhancers	HMEC	breast
8	chr7:26588800-26589800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:26588800-26589800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr7:26588800-26590600	Enhancers	NHEK	skin
11	chr7:26588800-26591000	Enhancers	Spleen	Spleen
12	chr7:26589000-26589800	Flanking Active TSS	Hela-S3	cervix
13	chr7:26589000-26590600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:26589000-26590600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:26589000-26590600	Enhancers	Fetal Thymus	thymus
16	chr7:26589000-26595800	Weak transcription	Lung	lung

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