Variant report

Variant	rs7051717
Chromosome Location	chrX:64902098-64902099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:64892164..64895906-chrX:64901518..64904698,4	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12009586	1.00[YRI][hapmap]
rs12395619	1.00[TSI][hapmap]
rs12397033	1.00[ASW][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap]
rs1332720	1.00[YRI][hapmap]
rs13731	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs16989666	1.00[MEX][hapmap]
rs16989770	1.00[GIH][hapmap]
rs2038284	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2038285	1.00[ASW][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap]
rs4535877	1.00[TSI][hapmap]
rs5918955	1.00[YRI][hapmap]
rs5918956	1.00[YRI][hapmap]
rs5964442	1.00[ASW][hapmap];0.85[LWK][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs5964443	0.91[ASW][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap]
rs5964999	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs5965003	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs5965004	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs5965006	0.87[GIH][hapmap];1.00[MEX][hapmap]
rs5965007	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs5965030	0.87[GIH][hapmap];1.00[MEX][hapmap]
rs5965044	1.00[YRI][hapmap]
rs6524991	1.00[MEX][hapmap]
rs6525003	1.00[YRI][hapmap]
rs6525004	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs6525006	1.00[ASW][hapmap];0.87[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6525007	1.00[ASW][hapmap];0.87[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6624812	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs6624813	1.00[YRI][hapmap]
rs6624823	0.83[ASW][hapmap];1.00[MEX][hapmap]
rs6653221	1.00[YRI][hapmap]
rs7050592	1.00[ASW][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7053565	1.00[YRI][hapmap]
rs7061281	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs7887261	1.00[GIH][hapmap]

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	nsv817451	chrX:64049597-64916072	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv3429625	chrX:64787230-65458721	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv869900	chrX:64885384-64942167	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:64889000-64911800	Weak transcription	Gastric	stomach
2	chrX:64889400-64917200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chrX:64889800-64916600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chrX:64889800-64917000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chrX:64894000-64916400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chrX:64894400-64902400	Weak transcription	Liver	Liver
7	chrX:64894400-64906400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chrX:64894600-64905000	Weak transcription	Aorta	Aorta
9	chrX:64894800-64916000	Weak transcription	Fetal Lung	lung
10	chrX:64894800-64917200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chrX:64895200-64910600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chrX:64895400-64903400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chrX:64895400-64906200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chrX:64896400-64908400	Weak transcription	Brain Substantia Nigra	brain
15	chrX:64898000-64903000	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chrX:64898000-64906200	Genic enhancers	Dnd41	blood
17	chrX:64898200-64902400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chrX:64898600-64908400	Weak transcription	Fetal Stomach	stomach
19	chrX:64898600-64909400	Weak transcription	Esophagus	oesophagus
20	chrX:64899000-64905200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chrX:64899200-64902200	Enhancers	Primary T cells from cord blood	blood
22	chrX:64899200-64905400	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chrX:64899200-64909800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chrX:64899200-64909800	Weak transcription	Brain Anterior Caudate	brain
25	chrX:64899400-64902400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chrX:64899400-64906400	Weak transcription	Fetal Heart	heart
27	chrX:64899600-64904600	Weak transcription	Duodenum Mucosa	Duodenum
28	chrX:64899800-64903000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chrX:64899800-64905000	Weak transcription	Osteobl	bone
30	chrX:64899800-64906200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chrX:64899800-64907200	Weak transcription	NHLF	lung
32	chrX:64899800-64907400	Weak transcription	NHDF-Ad	bronchial
33	chrX:64899800-64908800	Weak transcription	Colonic Mucosa	Colon
34	chrX:64899800-64909000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chrX:64900000-64902200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chrX:64900000-64902200	Weak transcription	Small Intestine	intestine
37	chrX:64900000-64902400	Weak transcription	HMEC	breast
38	chrX:64900000-64902600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chrX:64900000-64902800	Genic enhancers	Primary B cells from cord blood	blood
40	chrX:64900000-64902800	Weak transcription	Fetal Muscle Leg	muscle
41	chrX:64900000-64904600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chrX:64900000-64904600	Weak transcription	Thymus	Thymus
43	chrX:64900000-64905000	Weak transcription	NHEK	skin
44	chrX:64900000-64907400	Weak transcription	Psoas Muscle	Psoas
45	chrX:64900000-64907400	Weak transcription	Rectal Smooth Muscle	rectum
46	chrX:64900000-64907400	Weak transcription	HSMMtube	muscle
47	chrX:64900000-64908200	Weak transcription	Pancreas	Pancrea
48	chrX:64900000-64916800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chrX:64900200-64902200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chrX:64900200-64903000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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