Variant report

Variant	rs5942883
Chromosome Location	chrX:109310384-109310385
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:109303323..109306733-chrX:109309861..109312937,3	K562	blood:
2	chrX:109303323..109306737-chrX:109310085..109312937,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11152597	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap]
rs11797230	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12841904	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs1418393	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1623948	1.00[JPT][hapmap]
rs1770343	1.00[JPT][hapmap]
rs1774690	1.00[JPT][hapmap]
rs2066364	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.80[TSI][hapmap]
rs2795994	1.00[JPT][hapmap]
rs2881449	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs34247395	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4081383	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4421522	0.88[CHB][hapmap];0.83[GIH][hapmap]
rs4628434	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs4893450	0.88[CHB][hapmap]
rs5942620	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs5942626	0.88[CHB][hapmap];0.85[GIH][hapmap]
rs5942628	0.88[CHB][hapmap];0.83[GIH][hapmap]
rs5942629	0.88[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs5942880	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs5942886	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap]
rs5942887	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs5942890	0.88[CHB][hapmap];0.83[GIH][hapmap]
rs5942896	0.88[CHB][hapmap];0.83[GIH][hapmap]
rs5942897	0.88[CHB][hapmap];0.83[GIH][hapmap]
rs5985271	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs5985439	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs5985440	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs5985442	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs5985446	0.88[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs946820	1.00[JPT][hapmap]
rs946821	1.00[JPT][hapmap]
rs946822	1.00[JPT][hapmap]
rs947592	0.88[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][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	nsv531154	chrX:108934095-109332109	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	130 gene(s)	inside rSNPs	diseases
2	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:109247400-109318200	Weak transcription	Thymus	Thymus
2	chrX:109266600-109318000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chrX:109267200-109377800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chrX:109270200-109311200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chrX:109280200-109331800	Weak transcription	Primary B cells from cord blood	blood
6	chrX:109280400-109316600	Weak transcription	Primary B cells from peripheral blood	blood
7	chrX:109284000-109318200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chrX:109286800-109316600	Weak transcription	Primary hematopoietic stem cells	blood
9	chrX:109288600-109312800	Weak transcription	Fetal Intestine Small	intestine
10	chrX:109289200-109325000	Weak transcription	Psoas Muscle	Psoas
11	chrX:109291000-109319400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chrX:109291800-109310800	Weak transcription	Right Ventricle	heart
13	chrX:109294000-109316200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chrX:109294200-109315400	Weak transcription	Dnd41	blood
15	chrX:109297000-109324800	Weak transcription	Fetal Thymus	thymus
16	chrX:109298000-109316400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chrX:109298600-109310600	Weak transcription	Fetal Intestine Large	intestine
18	chrX:109300000-109310600	Weak transcription	K562	blood
19	chrX:109300000-109322400	Weak transcription	A549	lung
20	chrX:109300000-109324600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chrX:109302800-109321400	Weak transcription	Primary T cells from cord blood	blood
22	chrX:109304400-109328600	Weak transcription	Hela-S3	cervix
23	chrX:109304800-109310800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chrX:109304800-109312200	Weak transcription	Spleen	Spleen
25	chrX:109304800-109316600	Weak transcription	Adipose Nuclei	Adipose
26	chrX:109305000-109311200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chrX:109305000-109325000	Weak transcription	HSMM	muscle
28	chrX:109305000-109330200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chrX:109306200-109318800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chrX:109306400-109310600	Weak transcription	Pancreas	Pancrea
31	chrX:109307000-109310600	Weak transcription	Left Ventricle	heart
32	chrX:109307400-109324600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chrX:109307600-109310800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chrX:109307600-109329400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chrX:109308000-109317000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chrX:109309400-109314800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chrX:109309600-109311400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chrX:109309600-109311600	Enhancers	Fetal Heart	heart
39	chrX:109309800-109310400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chrX:109309800-109319400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chrX:109309800-109321800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chrX:109310000-109310400	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chrX:109310000-109310600	Enhancers	GM12878-XiMat	blood
44	chrX:109310000-109311200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chrX:109310200-109310600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chrX:109310200-109311600	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chrX:109310200-109311800	Strong transcription	Duodenum Mucosa	Duodenum
48	chrX:109310200-109312200	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chrX:109310200-109318000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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