Variant report

Variant	rs2209052
Chromosome Location	chrX:74551865-74551866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10047013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1017681	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]
rs1017682	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs11093538	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12008941	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12009021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs12156864	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12861282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs1318846	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs1353592	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap]
rs1418343	1.00[MEX][hapmap]
rs1874557	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs1936914	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs1936918	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs1936919	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1936923	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1998492	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]
rs1998493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs1998494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2146767	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap]
rs2146770	1.00[MEX][hapmap]
rs2181550	1.00[MEX][hapmap]
rs2209045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2209046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2224753	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]
rs2224754	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap]
rs2367108	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs2367109	1.00[MEX][hapmap]
rs2367165	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2367177	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap]
rs2367178	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs3850144	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs4892396	1.00[MEX][hapmap]
rs4892404	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[YRI][hapmap]
rs4892579	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap]
rs4892583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap]
rs4892587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs4892588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs5937351	1.00[MEX][hapmap]
rs5937370	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs5937392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs5938009	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs5938014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs5938015	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs5938047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs5938053	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs5938054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs5938065	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap]
rs5938066	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap]
rs5938069	1.00[CHB][hapmap]
rs5938070	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.88[LWK][hapmap];0.94[MKK][hapmap];0.86[YRI][hapmap]
rs5938077	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap]
rs5938079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs5938085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs5938091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs5981343	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs5981358	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs5981362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap]
rs5981831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap]
rs5981834	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs6647105	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap]
rs6647123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs6647687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs6647741	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs6647747	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap]
rs7885952	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs7886499	1.00[CEU][hapmap];1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13841	chrX:74461978-74657064	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv532360	chrX:74462926-74651249	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1067730	chrX:74463757-74592761	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv532879	chrX:74463757-74592761	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv916109	chrX:74463757-74651249	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2756527	chrX:74523871-74602347	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv949041	chrX:74523871-74645058	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:74512000-74553000	Weak transcription	Primary B cells from cord blood	blood
2	chrX:74517200-74554600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chrX:74520200-74554400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chrX:74538400-74554800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chrX:74539800-74552200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chrX:74540400-74556600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chrX:74540600-74552000	Weak transcription	Brain Cingulate Gyrus	brain
8	chrX:74547400-74553200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chrX:74547400-74554200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chrX:74547800-74552400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chrX:74548400-74554200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chrX:74548400-74556800	Weak transcription	Right Ventricle	heart
13	chrX:74548600-74554400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chrX:74548800-74552000	Weak transcription	Primary T cells from cord blood	blood
15	chrX:74548800-74552200	Weak transcription	Fetal Kidney	kidney
16	chrX:74549200-74555800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chrX:74549200-74555800	Weak transcription	Brain Hippocampus Middle	brain
18	chrX:74549400-74552000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chrX:74549400-74552000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chrX:74549400-74552400	Weak transcription	Duodenum Mucosa	Duodenum
21	chrX:74549400-74552800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chrX:74549400-74554200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chrX:74549400-74554200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chrX:74549400-74554400	Weak transcription	Fetal Stomach	stomach
25	chrX:74549400-74554400	Weak transcription	Gastric	stomach
26	chrX:74549400-74554600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chrX:74549400-74554600	Weak transcription	Pancreas	Pancrea
28	chrX:74549400-74554600	Weak transcription	Thymus	Thymus
29	chrX:74549400-74554800	Weak transcription	Colonic Mucosa	Colon
30	chrX:74549400-74555800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chrX:74549400-74557200	Weak transcription	Left Ventricle	heart
32	chrX:74549400-74560000	Weak transcription	Ovary	ovary
33	chrX:74549600-74554200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chrX:74549800-74554200	Weak transcription	Fetal Intestine Small	intestine
35	chrX:74550600-74553000	ZNF genes & repeats	Liver	Liver

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