Variant report

Variant	rs6642423
Chromosome Location	chrX:109424029-109424030
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:109421851..109424505-chrX:109559245..109562575,3	MCF-7	breast:
2	chrX:109407073..109408893-chrX:109422405..109425053,2	MCF-7	breast:
3	chrX:109423476..109425457-chrX:109559607..109562366,3	K562	blood:
4	chrX:109419171..109421635-chrX:109423004..109425679,2	MCF-7	breast:
5	chrX:109421157..109424176-chrX:109424606..109427642,4	K562	blood:

Variant related genes	Relation type
ENSG00000101935	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1770343	0.85[MKK][hapmap]
rs1774691	0.85[MKK][hapmap]
rs2294504	0.87[CHD][hapmap]
rs2791640	0.81[ASW][hapmap]
rs2795993	0.81[ASW][hapmap]
rs3788769	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs5942915	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs5985271	0.81[ASW][hapmap]
rs946822	0.81[ASW][hapmap];0.85[MKK][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	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
2	nsv518116	chrX:109424029-109630707	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:109389800-109431800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chrX:109390400-109432000	Weak transcription	Primary hematopoietic stem cells	blood
3	chrX:109403000-109428200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chrX:109408400-109443600	Weak transcription	Small Intestine	intestine
5	chrX:109410800-109428600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chrX:109411800-109432000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chrX:109413400-109429000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chrX:109414600-109426400	Enhancers	Placenta	Placenta
9	chrX:109415400-109432000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chrX:109415600-109428200	Weak transcription	Aorta	Aorta
11	chrX:109416000-109428600	Weak transcription	Dnd41	blood
12	chrX:109416200-109460400	Weak transcription	Primary B cells from cord blood	blood
13	chrX:109417000-109426000	Weak transcription	Primary T cells from cord blood	blood
14	chrX:109417200-109441600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chrX:109417400-109425800	Weak transcription	Primary B cells from peripheral blood	blood
16	chrX:109418400-109432000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chrX:109418800-109433200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chrX:109418800-109443200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chrX:109418800-109453200	Weak transcription	Hela-S3	cervix
20	chrX:109420000-109427800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chrX:109420000-109449400	Weak transcription	Fetal Intestine Large	intestine
22	chrX:109420200-109425000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chrX:109420600-109424200	Enhancers	Ovary	ovary
24	chrX:109420800-109431800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chrX:109421000-109424600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chrX:109421200-109424200	Enhancers	Spleen	Spleen
27	chrX:109421200-109426200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chrX:109421400-109424800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chrX:109421400-109443400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chrX:109421800-109425600	Weak transcription	Lung	lung
31	chrX:109421800-109425600	Weak transcription	Right Atrium	heart
32	chrX:109421800-109425800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chrX:109422200-109424400	Enhancers	Right Ventricle	heart
34	chrX:109422200-109424800	Enhancers	Left Ventricle	heart
35	chrX:109422400-109425400	Enhancers	Placenta Amnion	Placenta Amnion
36	chrX:109422400-109426200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chrX:109422400-109427000	Genic enhancers	K562	blood
38	chrX:109422400-109442200	Weak transcription	Pancreas	Pancrea
39	chrX:109422600-109426000	Enhancers	NH-A	brain
40	chrX:109422600-109426400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chrX:109422600-109444400	Weak transcription	Duodenum Mucosa	Duodenum
42	chrX:109423000-109426200	Enhancers	NHEK	skin
43	chrX:109423000-109426400	Enhancers	HMEC	breast
44	chrX:109423000-109432200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chrX:109423200-109424200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chrX:109423200-109424200	Bivalent Enhancer	Fetal Stomach	stomach
47	chrX:109423200-109425200	Enhancers	GM12878-XiMat	blood
48	chrX:109423200-109426200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chrX:109423200-109426200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chrX:109423200-109426200	Enhancers	NHDF-Ad	bronchial

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