Variant report

Variant	rs12832571
Chromosome Location	chrX:74518159-74518160
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11796750	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12839727	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1936915	0.87[CHB][hapmap]
rs1936917	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2012661	0.87[CHB][hapmap]
rs2124691	0.87[CHB][hapmap]
rs2367174	0.87[CHB][hapmap]
rs2886845	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs4148831	0.94[MEX][hapmap]
rs4892408	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap]
rs4892580	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs5937369	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs5937384	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs5937967	0.94[MEX][hapmap]
rs5938060	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs5938075	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.88[MEX][hapmap];0.81[MKK][hapmap];0.93[YRI][hapmap]
rs5981832	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs5981861	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs5981875	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs6607563	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6647730	0.84[CHB][hapmap]
rs6647731	0.87[CHB][hapmap]
rs7052314	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs7878508	0.87[CHB][hapmap]
rs9887743	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:74495200-74528800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chrX:74495800-74527800	Weak transcription	Thymus	Thymus
3	chrX:74504600-74520600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chrX:74504600-74547600	Weak transcription	Brain Hippocampus Middle	brain
5	chrX:74505000-74523800	Weak transcription	Left Ventricle	heart
6	chrX:74505200-74532400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chrX:74508200-74527200	Weak transcription	Fetal Lung	lung
8	chrX:74511400-74520800	Weak transcription	HSMM	muscle
9	chrX:74511800-74526400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chrX:74512000-74553000	Weak transcription	Primary B cells from cord blood	blood
11	chrX:74512400-74520400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chrX:74512600-74521000	Weak transcription	Fetal Intestine Large	intestine
13	chrX:74512800-74520200	Weak transcription	Duodenum Mucosa	Duodenum
14	chrX:74512800-74539400	Weak transcription	Primary B cells from peripheral blood	blood
15	chrX:74513200-74519600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chrX:74513800-74539600	Weak transcription	GM12878-XiMat	blood
17	chrX:74514200-74519600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chrX:74514400-74533200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chrX:74514600-74519600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chrX:74514600-74549600	Weak transcription	Psoas Muscle	Psoas
21	chrX:74515200-74529200	Weak transcription	Small Intestine	intestine
22	chrX:74515200-74539400	Weak transcription	Primary T cells from cord blood	blood
23	chrX:74515400-74518600	Weak transcription	Liver	Liver
24	chrX:74515400-74520200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chrX:74515400-74539800	Weak transcription	HSMMtube	muscle
26	chrX:74515600-74519400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chrX:74515600-74520200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chrX:74515800-74538600	Weak transcription	Spleen	Spleen
29	chrX:74515800-74539000	Weak transcription	Fetal Muscle Leg	muscle
30	chrX:74516000-74518800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chrX:74516000-74522800	Weak transcription	Fetal Muscle Trunk	muscle
32	chrX:74516000-74526200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chrX:74516000-74526400	Weak transcription	Fetal Stomach	stomach
34	chrX:74516000-74538600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chrX:74516000-74539000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chrX:74516000-74539400	Weak transcription	Stomach Smooth Muscle	stomach
37	chrX:74516200-74526400	Weak transcription	Fetal Intestine Small	intestine
38	chrX:74516200-74528200	Weak transcription	Esophagus	oesophagus
39	chrX:74516200-74529400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chrX:74516200-74538400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chrX:74516200-74538800	Weak transcription	Ovary	ovary
42	chrX:74516200-74540000	Weak transcription	Pancreas	Pancrea
43	chrX:74516400-74523000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chrX:74516600-74519400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chrX:74516800-74528200	Weak transcription	Fetal Thymus	thymus
46	chrX:74516800-74536600	Weak transcription	Brain Germinal Matrix	brain
47	chrX:74517000-74518800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chrX:74517000-74520600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chrX:74517000-74523600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chrX:74517000-74526600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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