Variant report

Variant	rs10760494
Chromosome Location	chr9:101553661-101553662
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	CTCF	chr9:101553494-101553764	ProgFib	skin:	n/a	chr9:101553618-101553631 chr9:101553611-101553632 chr9:101553616-101553634 chr9:101553623-101553631 chr9:101553621-101553634
2	CEBPB	chr9:101553455-101553745	HepG2	liver:	n/a	n/a
3	CTCF	chr9:101553518-101553741	GM20000	blood:	n/a	chr9:101553618-101553631 chr9:101553611-101553632 chr9:101553616-101553634 chr9:101553623-101553631 chr9:101553621-101553634
4	CEBPB	chr9:101553449-101553826	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZKSCAN1	chr9:101553461-101553773	Hela-S3	cervix:	n/a	n/a
6	ATF2	chr9:101553361-101553936	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr9:101553471-101553768	GM12892	blood:	n/a	chr9:101553618-101553631 chr9:101553611-101553632 chr9:101553616-101553634 chr9:101553623-101553631 chr9:101553621-101553634
8	HDAC2	chr9:101553491-101553682	K562	blood:	n/a	n/a
9	CTCF	chr9:101553560-101553710	HPF	lung:	n/a	chr9:101553618-101553631 chr9:101553611-101553632 chr9:101553616-101553634 chr9:101553623-101553631 chr9:101553621-101553634
10	TEAD4	chr9:101553277-101553850	MCF-7	breast:	n/a	n/a
11	CTCF	chr9:101553520-101553670	GM12865	blood:	n/a	chr9:101553618-101553631 chr9:101553611-101553632 chr9:101553616-101553634 chr9:101553623-101553631 chr9:101553621-101553634
12	POLR2A	chr9:101553455-101553845	K562	blood:	n/a	n/a
13	FOS	chr9:101553291-101553723	MCF10A-Er-Src	breast:	n/a	n/a
14	CTCF	chr9:101553540-101553690	HRPEpiC	eye:	n/a	chr9:101553618-101553631 chr9:101553611-101553632 chr9:101553616-101553634 chr9:101553623-101553631 chr9:101553621-101553634
15	CTCF	chr9:101553540-101553690	HPAF	blood vessel:	n/a	chr9:101553618-101553631 chr9:101553611-101553632 chr9:101553616-101553634 chr9:101553623-101553631 chr9:101553621-101553634
16	TEAD4	chr9:101553267-101554078	A549	lung:	n/a	n/a
17	STAT3	chr9:101553357-101553711	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr9:101553441-101553774	T-47D	breast:	n/a	chr9:101553618-101553631 chr9:101553611-101553632 chr9:101553616-101553634 chr9:101553623-101553631 chr9:101553621-101553634
19	TEAD4	chr9:101553423-101553868	MCF-7	breast:	n/a	n/a
20	CTCF	chr9:101553540-101553690	BJ	skin:	n/a	chr9:101553618-101553631 chr9:101553611-101553632 chr9:101553616-101553634 chr9:101553623-101553631 chr9:101553621-101553634
21	MAZ	chr9:101553471-101553926	K562	blood:	n/a	n/a
22	CTCF	chr9:101553444-101553707	T-47D	breast:	n/a	chr9:101553618-101553631 chr9:101553611-101553632 chr9:101553616-101553634 chr9:101553623-101553631 chr9:101553621-101553634
23	CTCF	chr9:101553409-101553962	IMR90	lung:	n/a	chr9:101553618-101553631 chr9:101553795-101553816 chr9:101553611-101553632 chr9:101553793-101553811 chr9:101553616-101553634 chr9:101553798-101553808 chr9:101553623-101553631 chr9:101553794-101553810 chr9:101553796-101553809 chr9:101553621-101553634
24	RAD21	chr9:101552817-101554067	SK-N-SH	brain:	n/a	chr9:101553799-101553809 chr9:101553620-101553634 chr9:101553623-101553632 chr9:101553797-101553810 chr9:101553618-101553632 chr9:101553798-101553807 chr9:101553617-101553630 chr9:101553614-101553633 chr9:101553618-101553628 chr9:101553799-101553811 chr9:101553616-101553628 chr9:101553794-101553813
25	CTCF	chr9:101553332-101553933	MCF-7	breast:	n/a	chr9:101553618-101553631 chr9:101553795-101553816 chr9:101553611-101553632 chr9:101553793-101553811 chr9:101553616-101553634 chr9:101553798-101553808 chr9:101553623-101553631 chr9:101553794-101553810 chr9:101553796-101553809 chr9:101553621-101553634
26	STAT1	chr9:101553490-101553691	GM12878	blood:	n/a	n/a
27	CTCF	chr9:101553580-101553730	HCM	heart:	n/a	chr9:101553618-101553631 chr9:101553611-101553632 chr9:101553616-101553634 chr9:101553623-101553631 chr9:101553621-101553634
28	MYC	chr9:101553196-101553811	MCF10A-Er-Src	breast:	n/a	n/a
29	CTCF	chr9:101553489-101553781	GM10266	blood:	n/a	chr9:101553618-101553631 chr9:101553611-101553632 chr9:101553616-101553634 chr9:101553623-101553631 chr9:101553621-101553634
30	CTCF	chr9:101553560-101553710	A549	lung:	n/a	chr9:101553618-101553631 chr9:101553611-101553632 chr9:101553616-101553634 chr9:101553623-101553631 chr9:101553621-101553634
31	SMC3	chr9:101553513-101553807	HepG2	liver:	n/a	chr9:101553618-101553632
32	CTCF	chr9:101553492-101553787	HepG2	liver:	n/a	chr9:101553618-101553631 chr9:101553611-101553632 chr9:101553616-101553634 chr9:101553623-101553631 chr9:101553621-101553634
33	CTCF	chr9:101553580-101553730	GM12878	blood:	n/a	chr9:101553618-101553631 chr9:101553611-101553632 chr9:101553616-101553634 chr9:101553623-101553631 chr9:101553621-101553634
34	CTCF	chr9:101553580-101553730	GM12801	blood:	n/a	chr9:101553618-101553631 chr9:101553611-101553632 chr9:101553616-101553634 chr9:101553623-101553631 chr9:101553621-101553634
35	BHLHE40	chr9:101553481-101553804	K562	blood:	n/a	n/a
36	RAD21	chr9:101553212-101553975	HCT-116	colon:	n/a	chr9:101553799-101553809 chr9:101553620-101553634 chr9:101553623-101553632 chr9:101553797-101553810 chr9:101553618-101553632 chr9:101553798-101553807 chr9:101553617-101553630 chr9:101553614-101553633 chr9:101553618-101553628 chr9:101553799-101553811 chr9:101553616-101553628 chr9:101553794-101553813
37	CTCF	chr9:101553380-101553956	H1-hESC	embryonic stem cell:	n/a	chr9:101553618-101553631 chr9:101553795-101553816 chr9:101553611-101553632 chr9:101553793-101553811 chr9:101553616-101553634 chr9:101553798-101553808 chr9:101553623-101553631 chr9:101553794-101553810 chr9:101553796-101553809 chr9:101553621-101553634
38	TEAD4	chr9:101553278-101554410	ECC-1	luminal epithelium:	n/a	n/a
39	RAD21	chr9:101553414-101553793	GM12878	blood:	n/a	chr9:101553620-101553634 chr9:101553623-101553632 chr9:101553618-101553632 chr9:101553617-101553630 chr9:101553614-101553633 chr9:101553618-101553628 chr9:101553616-101553628
40	FOXM1	chr9:101553381-101553837	GM12878	blood:	n/a	n/a
41	PBX3	chr9:101553331-101553823	SK-N-SH	brain:	n/a	n/a
42	CTCF	chr9:101553560-101553710	NHEK	skin:	n/a	chr9:101553618-101553631 chr9:101553611-101553632 chr9:101553616-101553634 chr9:101553623-101553631 chr9:101553621-101553634
43	TEAD4	chr9:101553189-101554296	ECC-1	luminal epithelium:	n/a	n/a
44	YY1	chr9:101553447-101553737	K562	blood:	n/a	n/a
45	RFX5	chr9:101553370-101553786	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr9:101553378-101553742	SK-N-SH	brain:	n/a	n/a
47	RAD21	chr9:101553405-101553697	HepG2	liver:	n/a	chr9:101553620-101553634 chr9:101553623-101553632 chr9:101553618-101553632 chr9:101553617-101553630 chr9:101553614-101553633 chr9:101553618-101553628 chr9:101553616-101553628
48	POLR2A	chr9:101553404-101553845	K562	blood:	n/a	n/a
49	CTCF	chr9:101553275-101553974	HCT-116	colon:	n/a	chr9:101553618-101553631 chr9:101553795-101553816 chr9:101553611-101553632 chr9:101553793-101553811 chr9:101553616-101553634 chr9:101553798-101553808 chr9:101553623-101553631 chr9:101553794-101553810 chr9:101553796-101553809 chr9:101553621-101553634
50	TEAD4	chr9:101553455-101553768	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:101552233..101554875-chr9:101569362..101571456,2	K562	blood:
2	chr9:101535383..101538083-chr9:101553407..101556464,3	MCF-7	breast:
3	chr9:101545621..101549470-chr9:101551390..101554188,5	MCF-7	breast:
4	chr9:101539424..101541523-chr9:101551442..101554198,3	MCF-7	breast:
5	chr9:101449456..101450034-chr9:101553482..101554214,2	MCF-7	breast:
6	chr9:101550225..101553756-chr9:101569289..101571539,3	MCF-7	breast:
7	chr9:101551293..101553847-chr9:101568036..101571328,4	K562	blood:
8	chr9:101550194..101555244-chr9:101566657..101571786,8	MCF-7	breast:
9	chr9:101553177..101554798-chr9:101692921..101694509,2	K562	blood:

Variant related genes	Relation type
ANKS6	TF binding region
ENSG00000119514	Chromatin interaction
ENSG00000165138	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10121153	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1022796	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10739690	0.86[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs10760475	0.85[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs10760479	0.86[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs10819266	0.81[ASN][1000 genomes]
rs10819308	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10819320	0.88[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10987747	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs10987749	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10987771	0.83[EUR][1000 genomes]
rs11791440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12056975	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs1543506	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs1555519	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2146255	0.83[EUR][1000 genomes]
rs33998698	0.83[EUR][1000 genomes]
rs3933477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4742737	0.86[ASN][1000 genomes]
rs4742738	0.86[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs4742741	0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4742745	0.88[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4743278	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4743281	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4743282	0.85[ASN][1000 genomes]
rs6478839	0.84[ASN][1000 genomes]
rs6478845	0.83[ASN][1000 genomes]
rs7018907	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7020056	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7027405	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7027771	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7038640	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7047722	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7357783	0.85[ASN][1000 genomes]
rs7469116	0.88[ASN][1000 genomes]
rs7853904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7861186	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7865233	0.90[CHB][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9886821	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv614936	chr9:101182698-101680380	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv893614	chr9:101340316-101671634	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv893615	chr9:101356515-101678036	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10760494	ANKS6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101508600-101557400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr9:101518800-101557200	Weak transcription	Psoas Muscle	Psoas
3	chr9:101521200-101557600	Weak transcription	Fetal Brain Male	brain
4	chr9:101530400-101557800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr9:101534000-101557600	Weak transcription	Right Atrium	heart
6	chr9:101535800-101557400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr9:101536000-101557600	Weak transcription	Primary B cells from cord blood	blood
8	chr9:101536600-101557600	Weak transcription	Brain Germinal Matrix	brain
9	chr9:101537000-101557400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr9:101544200-101557600	Weak transcription	Colonic Mucosa	Colon
11	chr9:101544800-101557600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr9:101545200-101557200	Weak transcription	Liver	Liver
13	chr9:101546200-101557600	Weak transcription	Left Ventricle	heart
14	chr9:101546400-101557200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr9:101547000-101557000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr9:101550600-101557000	Weak transcription	Dnd41	blood
17	chr9:101551000-101557400	Weak transcription	Fetal Brain Female	brain
18	chr9:101552400-101554000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:101552400-101556800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr9:101552400-101557000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr9:101552400-101557400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr9:101552600-101553800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr9:101552600-101554200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr9:101552600-101554200	Enhancers	HSMMtube	muscle
25	chr9:101552600-101554400	Enhancers	Pancreas	Pancrea
26	chr9:101552600-101554600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:101552600-101554600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:101552600-101557000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr9:101552600-101557000	Weak transcription	Esophagus	oesophagus
30	chr9:101552600-101557200	Weak transcription	Right Ventricle	heart
31	chr9:101552600-101557600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:101552600-101557800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr9:101552800-101553800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:101552800-101553800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr9:101552800-101554000	Weak transcription	Gastric	stomach
36	chr9:101552800-101554000	Enhancers	NHDF-Ad	bronchial
37	chr9:101552800-101554200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr9:101552800-101554600	Enhancers	Lung	lung
39	chr9:101552800-101554600	Enhancers	Ovary	ovary
40	chr9:101552800-101554800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr9:101552800-101554800	Genic enhancers	NHEK	skin
42	chr9:101552800-101555000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:101552800-101555000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr9:101552800-101555400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr9:101552800-101555800	Enhancers	Stomach Mucosa	stomach
46	chr9:101552800-101556600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr9:101552800-101557200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr9:101552800-101557200	Weak transcription	Spleen	Spleen
49	chr9:101552800-101557600	Weak transcription	Aorta	Aorta
50	chr9:101553000-101553800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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