Variant report

Variant	rs3123257
Chromosome Location	chrX:80036065-80036066
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11796018	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs12556865	0.88[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap]
rs16979508	0.93[CEU][hapmap];0.96[GIH][hapmap]
rs2137444	0.88[YRI][hapmap]
rs28417201	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs3106407	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs3122406	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs3132154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs3810676	0.82[JPT][hapmap]
rs3923574	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs4240018	1.00[CEU][hapmap]
rs4567187	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap]
rs4826192	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs7049509	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs7059257	0.94[CEU][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	nsv916218	chrX:79377399-80230929	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv33127	chrX:79989618-80370141	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:80000400-80045800	Weak transcription	Dnd41	blood
2	chrX:80017800-80047200	Weak transcription	Primary B cells from peripheral blood	blood
3	chrX:80019000-80045400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chrX:80019200-80044600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chrX:80019400-80055000	Weak transcription	Primary T cells from cord blood	blood
6	chrX:80020000-80063000	Weak transcription	Thymus	Thymus
7	chrX:80020200-80063600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chrX:80020800-80062800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chrX:80021000-80062600	Weak transcription	A549	lung
10	chrX:80021200-80040400	Weak transcription	Hela-S3	cervix
11	chrX:80021200-80063000	Weak transcription	Osteobl	bone
12	chrX:80022600-80063600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chrX:80022800-80040000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chrX:80022800-80044200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chrX:80022800-80045800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chrX:80022800-80063000	Weak transcription	Fetal Intestine Small	intestine
17	chrX:80023000-80046600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chrX:80023800-80037600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chrX:80023800-80045400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chrX:80025600-80063000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chrX:80026200-80061400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chrX:80028200-80047800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chrX:80028600-80049600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chrX:80028600-80063000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chrX:80029000-80044000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chrX:80030400-80044200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chrX:80031000-80040600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chrX:80031400-80045400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chrX:80031800-80047800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chrX:80032400-80039600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chrX:80032400-80063000	Weak transcription	Primary hematopoietic stem cells	blood
32	chrX:80032400-80063000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chrX:80032600-80062800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chrX:80033000-80044600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chrX:80033200-80046000	Weak transcription	Ovary	ovary
36	chrX:80034200-80062600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chrX:80035400-80062800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chrX:80036000-80036200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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