Variant report

Variant	rs2881449
Chromosome Location	chrX:109313740-109313741
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:109244810..109247688-chrX:109313040..109314625,2	K562	blood:

Variant related genes	Relation type
ENSG00000157600	Chromatin interaction

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];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11797230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12841904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs1418393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][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];1.00[CHD][hapmap];0.94[GIH][hapmap];0.80[TSI][hapmap]
rs2795994	1.00[JPT][hapmap]
rs34247395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4081383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4421522	0.88[CHB][hapmap];0.85[CHD][hapmap];0.80[GIH][hapmap]
rs4628434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][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];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs5942626	0.88[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap]
rs5942628	0.88[CHB][hapmap];0.85[CHD][hapmap];0.80[GIH][hapmap]
rs5942629	0.88[CHB][hapmap];0.85[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap]
rs5942880	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs5942883	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]
rs5942886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap]
rs5942887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs5942890	0.88[CHB][hapmap];0.85[CHD][hapmap];0.80[GIH][hapmap]
rs5942896	0.88[CHB][hapmap];0.85[CHD][hapmap];0.80[GIH][hapmap]
rs5942897	0.88[CHB][hapmap];0.85[CHD][hapmap];0.80[GIH][hapmap]
rs5985271	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs5985439	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs5985440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs5985442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs5985446	0.88[CHB][hapmap];0.85[CHD][hapmap];0.80[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];1.00[CHD][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:47 , 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:109280200-109331800	Weak transcription	Primary B cells from cord blood	blood
5	chrX:109280400-109316600	Weak transcription	Primary B cells from peripheral blood	blood
6	chrX:109284000-109318200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chrX:109286800-109316600	Weak transcription	Primary hematopoietic stem cells	blood
8	chrX:109289200-109325000	Weak transcription	Psoas Muscle	Psoas
9	chrX:109291000-109319400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chrX:109294000-109316200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chrX:109294200-109315400	Weak transcription	Dnd41	blood
12	chrX:109297000-109324800	Weak transcription	Fetal Thymus	thymus
13	chrX:109298000-109316400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chrX:109300000-109322400	Weak transcription	A549	lung
15	chrX:109300000-109324600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chrX:109302800-109321400	Weak transcription	Primary T cells from cord blood	blood
17	chrX:109304400-109328600	Weak transcription	Hela-S3	cervix
18	chrX:109304800-109316600	Weak transcription	Adipose Nuclei	Adipose
19	chrX:109305000-109325000	Weak transcription	HSMM	muscle
20	chrX:109305000-109330200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chrX:109306200-109318800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chrX:109307400-109324600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chrX:109307600-109329400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chrX:109308000-109317000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chrX:109309400-109314800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chrX:109309800-109319400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chrX:109309800-109321800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chrX:109310200-109318000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chrX:109310600-109317400	Weak transcription	GM12878-XiMat	blood
30	chrX:109311000-109328800	Weak transcription	Left Ventricle	heart
31	chrX:109311400-109316000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chrX:109311400-109316200	Weak transcription	Fetal Muscle Leg	muscle
33	chrX:109311600-109316000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chrX:109311600-109316000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chrX:109311600-109316200	Weak transcription	Fetal Intestine Large	intestine
36	chrX:109311600-109316200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chrX:109311600-109324600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chrX:109311600-109324600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chrX:109311800-109324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chrX:109311800-109329000	Weak transcription	Duodenum Mucosa	Duodenum
41	chrX:109312000-109314400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chrX:109312000-109314400	Weak transcription	K562	blood
43	chrX:109312000-109315800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chrX:109312200-109316200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chrX:109312600-109316600	Weak transcription	Fetal Kidney	kidney
46	chrX:109312800-109317400	Strong transcription	Fetal Intestine Small	intestine
47	chrX:109313200-109317000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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