Variant report

Variant	rs6567848
Chromosome Location	chrX:109435629-109435630
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:109421006..109423819-chrX:109432904..109436852,3	K562	blood:
2	chrX:109434074..109437928-chrX:109558045..109562935,4	MCF-7	breast:

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]
rs12115909	1.00[LWK][hapmap];1.00[MEX][hapmap]
rs12116084	1.00[MEX][hapmap]
rs12116355	1.00[MEX][hapmap]
rs16985950	1.00[MEX][hapmap]
rs16985968	1.00[MEX][hapmap]
rs7062603	1.00[LWK][hapmap];1.00[MEX][hapmap]
rs7879171	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs7879645	1.00[YRI][hapmap]
rs7890338	1.00[ASW][hapmap];1.00[YRI][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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:109408400-109443600	Weak transcription	Small Intestine	intestine
2	chrX:109416200-109460400	Weak transcription	Primary B cells from cord blood	blood
3	chrX:109417200-109441600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chrX:109418800-109443200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chrX:109418800-109453200	Weak transcription	Hela-S3	cervix
6	chrX:109420000-109449400	Weak transcription	Fetal Intestine Large	intestine
7	chrX:109421400-109443400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chrX:109422400-109442200	Weak transcription	Pancreas	Pancrea
9	chrX:109422600-109444400	Weak transcription	Duodenum Mucosa	Duodenum
10	chrX:109423600-109444600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chrX:109424200-109443200	Weak transcription	Gastric	stomach
12	chrX:109424400-109453000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chrX:109424800-109438400	Weak transcription	HSMM	muscle
14	chrX:109426200-109437600	Weak transcription	NHDF-Ad	bronchial
15	chrX:109426200-109447200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chrX:109426200-109448400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chrX:109426200-109448400	Weak transcription	NHEK	skin
18	chrX:109426400-109436000	Weak transcription	HMEC	breast
19	chrX:109426400-109438200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chrX:109426400-109452000	Weak transcription	Left Ventricle	heart
21	chrX:109426400-109452600	Weak transcription	NHLF	lung
22	chrX:109426600-109459000	Weak transcription	Fetal Intestine Small	intestine
23	chrX:109429200-109438800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chrX:109429400-109438400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chrX:109429400-109438600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chrX:109430200-109445200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chrX:109430200-109452800	Weak transcription	A549	lung
28	chrX:109431400-109443800	Weak transcription	Spleen	Spleen
29	chrX:109432000-109448400	Weak transcription	HSMMtube	muscle
30	chrX:109432400-109441200	Weak transcription	Primary hematopoietic stem cells	blood
31	chrX:109432400-109443600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chrX:109432400-109451000	Weak transcription	Fetal Thymus	thymus
33	chrX:109432600-109438000	Weak transcription	K562	blood
34	chrX:109432600-109443200	Weak transcription	Primary B cells from peripheral blood	blood
35	chrX:109432600-109448000	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chrX:109432600-109448200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chrX:109432600-109463200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chrX:109433000-109435800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chrX:109433000-109439200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chrX:109433000-109440400	Weak transcription	Primary T cells from cord blood	blood
41	chrX:109433000-109441400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chrX:109433000-109441800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chrX:109433000-109443000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chrX:109433000-109443600	Weak transcription	Thymus	Thymus
45	chrX:109433000-109460600	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chrX:109433000-109464600	Weak transcription	GM12878-XiMat	blood
47	chrX:109433200-109441000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chrX:109433200-109441200	Weak transcription	Dnd41	blood
49	chrX:109433200-109442600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chrX:109433200-109447800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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