Variant report

Variant	rs189131214
Chromosome Location	chrX:74529057-74529058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13841	chrX:74461978-74657064	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv532360	chrX:74462926-74651249	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1067730	chrX:74463757-74592761	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv532879	chrX:74463757-74592761	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv916109	chrX:74463757-74651249	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2756527	chrX:74523871-74602347	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv949041	chrX:74523871-74645058	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:74504600-74547600	Weak transcription	Brain Hippocampus Middle	brain
2	chrX:74505200-74532400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chrX:74512000-74553000	Weak transcription	Primary B cells from cord blood	blood
4	chrX:74512800-74539400	Weak transcription	Primary B cells from peripheral blood	blood
5	chrX:74513800-74539600	Weak transcription	GM12878-XiMat	blood
6	chrX:74514400-74533200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chrX:74514600-74549600	Weak transcription	Psoas Muscle	Psoas
8	chrX:74515200-74529200	Weak transcription	Small Intestine	intestine
9	chrX:74515200-74539400	Weak transcription	Primary T cells from cord blood	blood
10	chrX:74515400-74539800	Weak transcription	HSMMtube	muscle
11	chrX:74515800-74538600	Weak transcription	Spleen	Spleen
12	chrX:74515800-74539000	Weak transcription	Fetal Muscle Leg	muscle
13	chrX:74516000-74538600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chrX:74516000-74539000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chrX:74516000-74539400	Weak transcription	Stomach Smooth Muscle	stomach
16	chrX:74516200-74529400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chrX:74516200-74538400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chrX:74516200-74538800	Weak transcription	Ovary	ovary
19	chrX:74516200-74540000	Weak transcription	Pancreas	Pancrea
20	chrX:74516800-74536600	Weak transcription	Brain Germinal Matrix	brain
21	chrX:74517200-74554600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chrX:74518000-74539400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chrX:74518200-74539200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chrX:74518600-74538600	Weak transcription	Brain Angular Gyrus	brain
25	chrX:74519400-74538800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chrX:74519800-74539200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chrX:74519800-74539200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chrX:74520000-74538800	Weak transcription	Gastric	stomach
29	chrX:74520200-74554400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chrX:74520400-74539600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chrX:74521200-74539400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chrX:74521200-74543000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chrX:74521400-74538800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chrX:74521400-74538800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chrX:74521800-74538600	Weak transcription	Liver	Liver
36	chrX:74521800-74538600	Weak transcription	Duodenum Mucosa	Duodenum
37	chrX:74521800-74538800	Weak transcription	Fetal Intestine Large	intestine
38	chrX:74521800-74539000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chrX:74522000-74549600	Weak transcription	HSMM	muscle
40	chrX:74523000-74538600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chrX:74524000-74539200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chrX:74524200-74533800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chrX:74524200-74539600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chrX:74525200-74539200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chrX:74526800-74538200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chrX:74527000-74538600	Weak transcription	Fetal Intestine Small	intestine
47	chrX:74527000-74538600	Weak transcription	Fetal Stomach	stomach
48	chrX:74527000-74538800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chrX:74527000-74539000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chrX:74527000-74539000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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