Variant report

Variant	rs6473894
Chromosome Location	chr8:54753912-54753913
allele	A/G
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	SP1	chr8:54753532-54754080	H1-hESC	embryonic stem cell:	n/a	chr8:54753832-54753846
2	WRNIP1	chr8:54753757-54754203	GM12878	blood:	n/a	n/a
3	CTCF	chr8:54753780-54753930	RPTEC	kidney:	n/a	n/a
4	CTCF	chr8:54753840-54753990	MCF-7	breast:	n/a	n/a
5	CTCF	chr8:54753840-54753990	HL-60	blood:	n/a	n/a
6	CTCF	chr8:54753880-54754030	Caco-2	colon:	n/a	n/a
7	CTCF	chr8:54753780-54753930	GM12878	blood:	n/a	n/a
8	CTCF	chr8:54753820-54753970	HRPEpiC	eye:	n/a	n/a
9	SPI1	chr8:54753738-54754295	HL-60	blood:	n/a	chr8:54753833-54753846 chr8:54754012-54754021 chr8:54754013-54754020 chr8:54754010-54754023 chr8:54753827-54753840
10	CTCF	chr8:54753800-54753950	HepG2	liver:	n/a	n/a
11	ZNF217	chr8:54753671-54753914	MCF-7	breast:	n/a	n/a
12	CTCF	chr8:54753860-54754010	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr8:54753820-54753970	HPAF	blood vessel:	n/a	n/a
14	CHD2	chr8:54753689-54753916	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr8:54753800-54753950	HAc	cerebellar:	n/a	n/a
16	CTCF	chr8:54753880-54754030	NB4	blood:	n/a	n/a
17	CTCF	chr8:54753800-54753950	GM12872	blood:	n/a	n/a
18	SPI1	chr8:54753878-54754072	K562	blood:	n/a	chr8:54754012-54754021 chr8:54754013-54754020 chr8:54754010-54754023
19	CTCF	chr8:54753860-54754010	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr8:54753840-54753990	HBMEC	blood vessel:	n/a	n/a
21	SP1	chr8:54753633-54754042	H1-hESC	embryonic stem cell:	n/a	chr8:54753832-54753846
22	CTCF	chr8:54753860-54754010	HFF	foreskin:	n/a	n/a
23	CTCF	chr8:54753840-54753990	HEEpiC	esophagus:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54733544..54735901-chr8:54752993..54755423,2	MCF-7	breast:
2	chr8:53624816..53627483-chr8:54753343..54757526,4	K562	blood:

Variant related genes	Relation type
ATP6V1H	TF binding region
ENSG00000023287	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1004228	1.00[CEU][hapmap]
rs10504158	1.00[CEU][hapmap]
rs11985729	0.82[EUR][1000 genomes]
rs1384797	1.00[CEU][hapmap]
rs1483538	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1483539	1.00[CEU][hapmap]
rs1483540	1.00[CEU][hapmap]
rs1483542	1.00[CEU][hapmap]
rs1842983	1.00[CEU][hapmap]
rs1842984	1.00[CEU][hapmap]
rs3824121	1.00[CEU][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4737753	0.84[GIH][hapmap]
rs4737974	0.83[GIH][hapmap]
rs6473893	0.83[ASW][hapmap];0.87[GIH][hapmap];0.83[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs6994332	0.82[EUR][1000 genomes]
rs6997050	1.00[CEU][hapmap]
rs6998532	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs7005696	0.83[ASW][hapmap];0.84[GIH][hapmap];0.91[YRI][hapmap]
rs7016171	0.82[EUR][1000 genomes]
rs7017291	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs7827611	1.00[CEU][hapmap]
rs7831399	1.00[CEU][hapmap]
rs7846259	1.00[CEU][hapmap];0.89[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54710200-54755000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:54714600-54754000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:54724800-54754800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:54738800-54754800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:54738800-54755000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:54741200-54754000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:54741800-54754800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:54744200-54754800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:54745600-54754000	Strong transcription	Fetal Muscle Leg	muscle
10	chr8:54750400-54754800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:54750600-54755000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:54750800-54754200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:54751600-54754000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:54751600-54754200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr8:54751600-54754400	Genic enhancers	Primary T cells fromperipheralblood	blood
16	chr8:54752000-54754800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr8:54752200-54754000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr8:54752400-54754600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:54752400-54755000	Weak transcription	Left Ventricle	heart
20	chr8:54752600-54755000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:54752800-54754000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:54752800-54755000	Weak transcription	Aorta	Aorta
23	chr8:54753200-54754400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr8:54753200-54754600	Enhancers	Liver	Liver
25	chr8:54753400-54754000	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:54753400-54754000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr8:54753400-54754000	Genic enhancers	HepG2	liver
28	chr8:54753400-54754200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:54753400-54754200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:54753400-54754200	Genic enhancers	Primary T cells from cord blood	blood
31	chr8:54753400-54754200	Enhancers	Fetal Heart	heart
32	chr8:54753400-54754200	Enhancers	Placenta Amnion	Placenta Amnion
33	chr8:54753400-54754200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
34	chr8:54753400-54754200	Genic enhancers	HUVEC	blood vessel
35	chr8:54753400-54754400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:54753400-54754400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr8:54753400-54754400	Enhancers	Fetal Brain Female	brain
38	chr8:54753400-54755000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr8:54753400-54755200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:54753400-54756600	Active TSS	Brain Anterior Caudate	brain
41	chr8:54753600-54754000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:54753600-54754000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:54753600-54754000	Enhancers	Primary hematopoietic stem cells	blood
44	chr8:54753600-54754000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr8:54753600-54754000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:54753600-54754000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:54753600-54754000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:54753600-54754000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:54753600-54754000	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:54753600-54754000	Enhancers	Fetal Brain Male	brain

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