Variant report

Variant	rs1774691
Chromosome Location	chrX:109389233-109389234
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:109389050..109389717-chrX:109661151..109662171,3	K562	blood:
2	chrX:109289490..109290039-chrX:109389134..109390053,2	MCF-7	breast:
3	chrX:109388944..109389644-chrX:109655999..109656551,2	K562	blood:
4	chrX:109153934..109154867-chrX:109389200..109390081,3	MCF-7	breast:
5	chrX:109377745..109378648-chrX:109389137..109389792,2	MCF-7	breast:
6	chrX:109389140..109389969-chrX:110090254..110091174,2	K562	blood:
7	chrX:109129028..109130025-chrX:109388719..109389267,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12841904	1.00[JPT][hapmap]
rs1623948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap]
rs1770343	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1774690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap]
rs2791640	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2795991	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs2795992	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs2795993	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2795994	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[TSI][hapmap]
rs2795995	0.87[CHB][hapmap]
rs34247395	1.00[JPT][hapmap]
rs4421522	0.93[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs4893450	0.93[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs5942626	0.87[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs5942628	0.93[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs5942629	0.93[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.94[TSI][hapmap]
rs5942880	1.00[JPT][hapmap]
rs5942890	0.93[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs5942896	0.93[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs5942897	0.93[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs5942899	0.87[CHB][hapmap]
rs5985271	0.81[ASW][hapmap];0.82[MEX][hapmap];0.87[MKK][hapmap]
rs5985446	0.93[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.94[TSI][hapmap]
rs6642423	0.85[MKK][hapmap]
rs946820	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs946821	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap]
rs946822	0.81[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3369563	chrX:109079631-109573656	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	142 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:109334000-109402600	Weak transcription	Primary B cells from cord blood	blood
2	chrX:109352400-109402400	Weak transcription	Primary B cells from peripheral blood	blood
3	chrX:109352400-109414000	Weak transcription	Dnd41	blood
4	chrX:109363600-109392600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chrX:109367200-109396200	Weak transcription	Duodenum Mucosa	Duodenum
6	chrX:109374400-109389400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chrX:109375600-109389400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chrX:109376800-109392000	Weak transcription	Primary T cells from cord blood	blood
9	chrX:109377600-109403400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chrX:109378000-109392400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chrX:109382800-109392600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chrX:109384200-109389800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chrX:109384800-109389600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chrX:109384800-109390400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chrX:109385200-109390000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chrX:109385600-109389800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chrX:109385800-109390400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chrX:109385800-109406800	Weak transcription	Gastric	stomach
19	chrX:109386200-109389400	Weak transcription	Right Atrium	heart
20	chrX:109386400-109404000	Weak transcription	Right Ventricle	heart
21	chrX:109387000-109389600	Weak transcription	Ovary	ovary
22	chrX:109387000-109389800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chrX:109387200-109389400	Weak transcription	Fetal Heart	heart
24	chrX:109387200-109392200	Weak transcription	Fetal Muscle Trunk	muscle
25	chrX:109387400-109389400	Weak transcription	Esophagus	oesophagus
26	chrX:109387400-109389400	Weak transcription	Osteobl	bone
27	chrX:109387400-109389800	Weak transcription	Pancreas	Pancrea
28	chrX:109387400-109390000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chrX:109387600-109389800	Enhancers	Adipose Nuclei	Adipose
30	chrX:109387800-109389400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chrX:109387800-109389800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chrX:109387800-109404200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chrX:109387800-109411000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chrX:109388000-109389400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chrX:109388000-109389800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chrX:109388000-109389800	Enhancers	HUVEC	blood vessel
37	chrX:109388200-109418000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chrX:109388600-109389800	Enhancers	Brain Anterior Caudate	brain
39	chrX:109388600-109389800	Enhancers	HMEC	breast
40	chrX:109388600-109397000	Weak transcription	Lung	lung
41	chrX:109388800-109389600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chrX:109388800-109389600	Enhancers	Brain Inferior Temporal Lobe	brain
43	chrX:109388800-109389800	Enhancers	GM12878-XiMat	blood
44	chrX:109388800-109390000	Enhancers	Primary monocytes fromperipheralblood	blood
45	chrX:109388800-109390000	Genic enhancers	Fetal Muscle Leg	muscle
46	chrX:109388800-109390000	Enhancers	A549	lung
47	chrX:109389000-109389400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chrX:109389000-109389400	Weak transcription	Fetal Stomach	stomach
49	chrX:109389000-109389800	Enhancers	Spleen	Spleen
50	chrX:109389000-109389800	Enhancers	Hela-S3	cervix

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