Variant report

Variant	rs2491013
Chromosome Location	chrX:138894257-138894258
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17002234	0.94[LWK][hapmap];1.00[MKK][hapmap]
rs2094702	0.94[LWK][hapmap];1.00[MKK][hapmap]
rs2485726	0.94[LWK][hapmap];1.00[MKK][hapmap]
rs2491011	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs2497276	0.81[YRI][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	nsv532936	chrX:138687855-139384681	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
2	nsv491760	chrX:138780768-139283477	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:138827000-138895400	Weak transcription	Hela-S3	cervix
2	chrX:138833000-138907400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chrX:138841800-138898600	Weak transcription	HUVEC	blood vessel
4	chrX:138847800-138899400	Weak transcription	Aorta	Aorta
5	chrX:138848600-138897200	Weak transcription	Brain Anterior Caudate	brain
6	chrX:138849600-138898600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chrX:138853000-138908000	Weak transcription	A549	lung
8	chrX:138854800-138908600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chrX:138855000-138915400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chrX:138856200-138907800	Weak transcription	NHDF-Ad	bronchial
11	chrX:138856400-138899800	Weak transcription	K562	blood
12	chrX:138857800-138895000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chrX:138858400-138899800	Weak transcription	Spleen	Spleen
14	chrX:138859000-138910200	Weak transcription	Fetal Intestine Small	intestine
15	chrX:138863200-138903200	Weak transcription	Ovary	ovary
16	chrX:138865600-138911200	Weak transcription	Rectal Smooth Muscle	rectum
17	chrX:138868200-138913600	Weak transcription	Left Ventricle	heart
18	chrX:138868600-138914000	Weak transcription	Stomach Smooth Muscle	stomach
19	chrX:138869000-138899200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chrX:138869000-138915600	Weak transcription	Fetal Stomach	stomach
21	chrX:138869200-138898000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chrX:138869400-138907800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chrX:138870400-138907800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chrX:138870600-138913400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chrX:138871000-138898400	Weak transcription	NH-A	brain
26	chrX:138875600-138899400	Weak transcription	Fetal Muscle Leg	muscle
27	chrX:138878400-138896000	Weak transcription	Brain Substantia Nigra	brain
28	chrX:138880200-138913600	Weak transcription	Primary B cells from cord blood	blood
29	chrX:138881400-138913800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chrX:138881600-138897800	Weak transcription	Primary T cells from cord blood	blood
31	chrX:138884000-138897600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chrX:138884000-138907800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chrX:138884000-138913600	Weak transcription	Fetal Thymus	thymus
34	chrX:138884200-138905600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chrX:138884200-138908200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chrX:138884400-138897600	Weak transcription	Osteobl	bone
37	chrX:138884400-138898400	Weak transcription	HSMM	muscle
38	chrX:138884400-138899400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chrX:138884400-138907200	Weak transcription	Duodenum Mucosa	Duodenum
40	chrX:138884400-138909200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chrX:138884400-138909600	Weak transcription	Fetal Intestine Large	intestine
42	chrX:138884400-138911200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chrX:138884400-138913600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chrX:138884600-138895000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chrX:138884600-138895200	Weak transcription	Fetal Kidney	kidney
46	chrX:138884600-138895800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chrX:138884600-138895800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chrX:138884600-138898600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chrX:138885200-138907400	Weak transcription	Primary hematopoietic stem cells	blood
50	chrX:138885600-138898400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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