Variant report

Variant	rs186596263
Chromosome Location	chrX:79992671-79992672
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	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	nsv532882	chrX:79884715-80017999	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv524776	chrX:79903169-80012807	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	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
5	nsv528109	chrX:79992623-80012807	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:79936600-80000200	Weak transcription	Small Intestine	intestine
2	chrX:79937000-80003600	Weak transcription	Fetal Lung	lung
3	chrX:79950400-80001600	Weak transcription	Placenta	Placenta
4	chrX:79950600-80012000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chrX:79950800-80008200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chrX:79951600-80006000	Weak transcription	Primary B cells from cord blood	blood
7	chrX:79953400-80007600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chrX:79954800-80001400	Weak transcription	Fetal Stomach	stomach
9	chrX:79954800-80022200	Weak transcription	Fetal Intestine Small	intestine
10	chrX:79960200-80020600	Weak transcription	Hela-S3	cervix
11	chrX:79965600-80034200	Weak transcription	Left Ventricle	heart
12	chrX:79966200-80001200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chrX:79968000-80001600	Weak transcription	Ovary	ovary
14	chrX:79970400-79996800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chrX:79970400-79997800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chrX:79971400-79997600	Weak transcription	Primary T cells from cord blood	blood
17	chrX:79973000-80002800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chrX:79973200-79998000	Weak transcription	Fetal Kidney	kidney
19	chrX:79973200-80001000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chrX:79973400-80000200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chrX:79975400-80002400	Weak transcription	Brain Angular Gyrus	brain
22	chrX:79976200-80002200	Weak transcription	GM12878-XiMat	blood
23	chrX:79978200-79998600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chrX:79978400-80001200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chrX:79979600-80001400	Weak transcription	Fetal Intestine Large	intestine
26	chrX:79979600-80003600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chrX:79979600-80022400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chrX:79980000-80002200	Weak transcription	Liver	Liver
29	chrX:79980600-80001000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chrX:79980800-79994200	Weak transcription	Primary hematopoietic stem cells	blood
31	chrX:79980800-80002000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chrX:79981000-79996200	Weak transcription	HSMM	muscle
33	chrX:79981000-79999400	Weak transcription	Fetal Thymus	thymus
34	chrX:79981600-79999400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chrX:79981600-80012200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chrX:79982800-80011200	Weak transcription	Pancreas	Pancrea
37	chrX:79984200-79997400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chrX:79984400-79998600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chrX:79984600-79999200	Weak transcription	Duodenum Mucosa	Duodenum
40	chrX:79985200-79999000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chrX:79985400-80004200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chrX:79985800-79994200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chrX:79986400-80000000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chrX:79988000-79995600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chrX:79988200-80002400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chrX:79988800-79994200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chrX:79988800-79998600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chrX:79989000-79994200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chrX:79989000-79994200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chrX:79989000-79999000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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