Variant report

Variant	rs12012250
Chromosome Location	chrX:80059445-80059446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:80056733..80059659-chrX:80063754..80065563,2	K562	blood:

Variant related genes	Relation type
ENSG00000165288	Chromatin interaction

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

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

rs_ID	r²[population]
rs12012589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6524017	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6616701	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6622355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs6622362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:80020000-80063000	Weak transcription	Thymus	Thymus
2	chrX:80020200-80063600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chrX:80020800-80062800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chrX:80021000-80062600	Weak transcription	A549	lung
5	chrX:80021200-80063000	Weak transcription	Osteobl	bone
6	chrX:80022600-80063600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chrX:80022800-80063000	Weak transcription	Fetal Intestine Small	intestine
8	chrX:80025600-80063000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chrX:80026200-80061400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chrX:80028600-80063000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chrX:80032400-80063000	Weak transcription	Primary hematopoietic stem cells	blood
12	chrX:80032400-80063000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chrX:80032600-80062800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chrX:80034200-80062600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chrX:80035400-80062800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chrX:80036600-80062600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chrX:80036800-80062000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chrX:80037200-80062600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chrX:80038200-80062800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chrX:80039800-80063000	Weak transcription	Brain Germinal Matrix	brain
21	chrX:80040000-80063000	Weak transcription	Duodenum Mucosa	Duodenum
22	chrX:80040200-80062800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chrX:80041400-80063000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chrX:80041800-80062600	Weak transcription	Fetal Intestine Large	intestine
25	chrX:80042200-80062400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chrX:80044000-80063000	Weak transcription	HSMM	muscle
27	chrX:80044400-80062800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chrX:80044800-80062600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chrX:80044800-80063000	Weak transcription	NHLF	lung
30	chrX:80044800-80063600	Weak transcription	Lung	lung
31	chrX:80046200-80062000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chrX:80047000-80063000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chrX:80047400-80062000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chrX:80047400-80062200	Weak transcription	Hela-S3	cervix
35	chrX:80047600-80062800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chrX:80047800-80062600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chrX:80047800-80063000	Weak transcription	Primary B cells from peripheral blood	blood
38	chrX:80048000-80062000	Weak transcription	Dnd41	blood
39	chrX:80048000-80062800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chrX:80048400-80063000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chrX:80049600-80062000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chrX:80050000-80063200	Weak transcription	Placenta	Placenta
43	chrX:80050400-80063800	Weak transcription	Small Intestine	intestine
44	chrX:80051600-80063000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chrX:80052800-80063000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chrX:80053200-80063000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chrX:80053400-80062400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chrX:80053400-80062800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chrX:80053400-80063000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chrX:80054200-80063000	Weak transcription	Brain Hippocampus Middle	brain

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