Variant report

Variant	rs2039717
Chromosome Location	chrX:80531364-80531365
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12389790	0.86[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap]
rs1372756	0.86[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap]
rs1372757	0.86[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap]
rs1538351	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs1954611	0.84[JPT][hapmap]
rs2027279	0.86[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap]
rs5959087	0.86[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs5959088	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5959857	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5959860	0.86[CEU][hapmap];0.84[JPT][hapmap]
rs6524053	0.86[CEU][hapmap]
rs6616729	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754822	chrX:80365094-80852865	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:80497400-80534400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chrX:80510200-80547400	Weak transcription	Primary B cells from cord blood	blood
3	chrX:80511600-80547000	Weak transcription	Brain Angular Gyrus	brain
4	chrX:80512200-80536800	Weak transcription	Brain Hippocampus Middle	brain
5	chrX:80512600-80539000	Weak transcription	Primary T cells from cord blood	blood
6	chrX:80514600-80532600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chrX:80514800-80532400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chrX:80515400-80549400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chrX:80515800-80532400	Weak transcription	HSMM	muscle
10	chrX:80516800-80554200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chrX:80517600-80535000	Weak transcription	Colon Smooth Muscle	Colon
12	chrX:80517800-80535200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chrX:80518000-80532600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chrX:80518600-80537200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chrX:80518800-80534000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chrX:80518800-80534800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chrX:80518800-80535600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chrX:80518800-80547400	Weak transcription	Pancreas	Pancrea
19	chrX:80519000-80531800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chrX:80519000-80535000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chrX:80519000-80537600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chrX:80519200-80533400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chrX:80519400-80532800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chrX:80519400-80534000	Weak transcription	Fetal Thymus	thymus
25	chrX:80519600-80533000	Weak transcription	Fetal Intestine Large	intestine
26	chrX:80519600-80537800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chrX:80520400-80534600	Weak transcription	Brain Germinal Matrix	brain
28	chrX:80520400-80535400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chrX:80524200-80532400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chrX:80524200-80533000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chrX:80524200-80552200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chrX:80524600-80534000	Weak transcription	Thymus	Thymus
33	chrX:80524800-80534800	Weak transcription	GM12878-XiMat	blood
34	chrX:80525000-80532800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chrX:80525200-80532800	Weak transcription	Dnd41	blood
36	chrX:80525400-80547400	Weak transcription	Aorta	Aorta
37	chrX:80525600-80547400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chrX:80525800-80535800	Weak transcription	Rectal Smooth Muscle	rectum
39	chrX:80526200-80532600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chrX:80526600-80532400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chrX:80526600-80534800	Weak transcription	Lung	lung
42	chrX:80526800-80532000	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chrX:80526800-80532400	Weak transcription	Primary B cells from peripheral blood	blood
44	chrX:80526800-80533400	Weak transcription	Fetal Stomach	stomach
45	chrX:80526800-80534000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chrX:80526800-80534400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chrX:80526800-80534800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chrX:80526800-80534800	Weak transcription	Fetal Intestine Small	intestine
49	chrX:80526800-80535000	Weak transcription	Spleen	Spleen
50	chrX:80526800-80535400	Weak transcription	Stomach Smooth Muscle	stomach

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