Variant report

Variant	rs4948931
Chromosome Location	chr10:45420647-45420648
allele	A/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	chr10:45420557-45421014	NB4	blood:	n/a	chr10:45420752-45420768
2	CTCF	chr10:45420629-45420996	K562	blood:	n/a	chr10:45420806-45420819 chr10:45420799-45420820 chr10:45420804-45420822
3	CREB1	chr10:45420628-45421094	H1-hESC	embryonic stem cell:	n/a	chr10:45420852-45420865
4	RAD21	chr10:45420616-45421025	ECC-1	luminal epithelium:	n/a	chr10:45420805-45420818 chr10:45420802-45420821
5	TCF12	chr10:45420480-45420950	H1-hESC	embryonic stem cell:	n/a	n/a
6	SMC3	chr10:45420645-45420985	HepG2	liver:	n/a	chr10:45420806-45420820
7	CTCF	chr10:45420586-45421008	H1-hESC	embryonic stem cell:	n/a	chr10:45420806-45420819 chr10:45420799-45420820 chr10:45420804-45420822
8	CTCF	chr10:45420550-45420993	MCF-7	breast:	n/a	chr10:45420806-45420819 chr10:45420799-45420820 chr10:45420804-45420822
9	CTCF	chr10:45420613-45420955	H1-hESC	embryonic stem cell:	n/a	chr10:45420806-45420819 chr10:45420799-45420820 chr10:45420804-45420822
10	E2F6	chr10:45420049-45421121	H1-hESC	embryonic stem cell:	n/a	n/a
11	GTF2F1	chr10:45420289-45420924	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr10:45420584-45420937	HepG2	liver:	n/a	chr10:45420805-45420818 chr10:45420802-45420821
13	RAD21	chr10:45420627-45420983	HepG2	liver:	n/a	chr10:45420805-45420818 chr10:45420802-45420821
14	RAD21	chr10:45420454-45421054	H1-hESC	embryonic stem cell:	n/a	chr10:45420805-45420818 chr10:45420802-45420821
15	MAX	chr10:45420542-45421000	H1-hESC	embryonic stem cell:	n/a	chr10:45420752-45420768
16	TCF12	chr10:45420549-45420955	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr10:45420632-45421043	H1-hESC	embryonic stem cell:	n/a	n/a
18	SIN3A	chr10:45420617-45420987	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr10:45420624-45421011	K562	blood:	n/a	chr10:45420806-45420819 chr10:45420799-45420820 chr10:45420804-45420822
20	MAX	chr10:45420613-45420887	K562	blood:	n/a	chr10:45420752-45420768
21	RAD21	chr10:45420508-45421081	H1-hESC	embryonic stem cell:	n/a	chr10:45420805-45420818 chr10:45420802-45420821
22	MAX	chr10:45420441-45421103	H1-hESC	embryonic stem cell:	n/a	chr10:45420752-45420768
23	CTCF	chr10:45420628-45421031	K562	blood:	n/a	chr10:45420806-45420819 chr10:45420799-45420820 chr10:45420804-45420822
24	CTCF	chr10:45420640-45420790	HAc	cerebellar:	n/a	n/a
25	E2F6	chr10:45420513-45421024	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr10:45420598-45421017	K562	blood:	n/a	chr10:45420752-45420768
27	ATF2	chr10:45420618-45421003	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr10:45420571-45421085	H1-hESC	embryonic stem cell:	n/a	chr10:45420752-45420768
29	CTCF	chr10:45420631-45421031	K562	blood:	n/a	chr10:45420806-45420819 chr10:45420799-45420820 chr10:45420804-45420822
30	RAD21	chr10:45420555-45420993	A549	lung:	n/a	chr10:45420805-45420818 chr10:45420802-45420821
31	RAD21	chr10:45420538-45421047	HepG2	liver:	n/a	chr10:45420805-45420818 chr10:45420802-45420821
32	CTCF	chr10:45420634-45420961	HepG2	liver:	n/a	chr10:45420806-45420819 chr10:45420799-45420820 chr10:45420804-45420822
33	CTCF	chr10:45420620-45420770	RPTEC	kidney:	n/a	n/a
34	MYC	chr10:45420592-45421060	NB4	blood:	n/a	chr10:45420752-45420768
35	CTCF	chr10:45420510-45421446	A549	lung:	n/a	chr10:45420806-45420819 chr10:45420799-45420820 chr10:45420804-45420822
36	RAD21	chr10:45420556-45421055	H1-hESC	embryonic stem cell:	n/a	chr10:45420805-45420818 chr10:45420802-45420821
37	CTCF	chr10:45420540-45420690	NHDF-neo	bronchial:	n/a	n/a
38	CTCF	chr10:45420600-45420750	HFF-Myc	foreskin:	n/a	n/a
39	CTCF	chr10:45420620-45420770	GM12872	blood:	n/a	n/a
40	CTCF	chr10:45420636-45421013	GM12878	blood:	n/a	chr10:45420806-45420819 chr10:45420799-45420820 chr10:45420804-45420822
41	SMC3	chr10:45420639-45420993	K562	blood:	n/a	chr10:45420806-45420820

No.	Distal block	Cell Line	Cell type
1	chr10:45419232..45422212-chr10:45424408..45426713,2	K562	blood:
2	chr10:45358763..45359359-chr10:45420588..45421166,2	MCF-7	breast:
3	chr10:45359809..45360961-chr10:45420280..45421173,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234504	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10751362	0.83[CEU][hapmap];0.80[GIH][hapmap]
rs10793566	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10793567	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs10793568	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs10793569	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10900132	0.83[CEU][hapmap];0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs2065465	0.80[CHD][hapmap];0.84[JPT][hapmap]
rs4396240	0.83[CEU][hapmap];0.95[CHB][hapmap];0.80[CHD][hapmap];0.84[GIH][hapmap];0.85[ASN][1000 genomes]
rs4948646	0.86[ASN][1000 genomes]
rs4948929	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4948933	0.86[ASN][1000 genomes]
rs6593449	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs6593450	0.90[ASN][1000 genomes]
rs7067692	0.83[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.86[ASN][1000 genomes]
rs7068765	0.85[ASN][1000 genomes]
rs7095112	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs7096289	0.86[ASN][1000 genomes]
rs7100544	0.95[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs7477198	0.88[CEU][hapmap];0.95[GIH][hapmap];0.80[JPT][hapmap];0.85[TSI][hapmap]
rs7904676	0.82[MEX][hapmap]
rs7923073	0.95[CHB][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.90[ASN][1000 genomes]
rs7923091	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs867317	0.97[ASN][1000 genomes]
rs914695	0.83[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.86[ASN][1000 genomes]
rs914696	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv466909	chr10:45408011-45446791	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv550714	chr10:45408011-45446791	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3374788	chr10:45419346-45423644	Genic enhancers Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv818757	chr10:45420076-45431321	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45407800-45422800	Weak transcription	Ovary	ovary
2	chr10:45410200-45430400	Weak transcription	Gastric	stomach
3	chr10:45413400-45428200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr10:45417000-45434000	Weak transcription	Fetal Brain Female	brain
5	chr10:45417800-45422400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr10:45418800-45420800	Weak transcription	Spleen	Spleen
7	chr10:45418800-45424800	Weak transcription	Colonic Mucosa	Colon
8	chr10:45419400-45420800	Enhancers	Fetal Thymus	thymus
9	chr10:45419600-45421000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:45419800-45421000	Enhancers	Fetal Muscle Trunk	muscle
11	chr10:45419800-45421200	Enhancers	Fetal Muscle Leg	muscle
12	chr10:45420000-45421200	Enhancers	HSMMtube	muscle
13	chr10:45420200-45420800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr10:45420200-45421000	Enhancers	Lung	lung
15	chr10:45420200-45421000	Enhancers	Pancreas	Pancrea
16	chr10:45420200-45422200	Enhancers	HepG2	liver
17	chr10:45420400-45420800	Enhancers	Fetal Kidney	kidney
18	chr10:45420400-45421000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr10:45420400-45428000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr10:45420400-45428200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:45420600-45421000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr10:45420600-45421600	Bivalent Enhancer	K562	blood

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