Variant report

Variant	rs181017131
Chromosome Location	chrX:138285675-138285676
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:138285411..138288031-chrX:138303226..138305707,3	K562	blood:

Variant related genes	Relation type
ENSG00000129682	Chromatin interaction

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	nsv525867	chrX:137580983-138439843	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv533984	chrX:137938683-138556308	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv532935	chrX:138281469-138764448	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3346694	chrX:138283686-138289084	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3447668	chrX:138284786-138286884	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:138277600-138286000	Weak transcription	Right Atrium	heart
2	chrX:138283000-138288600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chrX:138284400-138287800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chrX:138284400-138288400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chrX:138284600-138286400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chrX:138284600-138287800	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chrX:138284600-138288000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
8	chrX:138284600-138288200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chrX:138284600-138288600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chrX:138284600-138288800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chrX:138284600-138288800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chrX:138284800-138286000	Bivalent/Poised TSS	Placenta	Placenta
13	chrX:138284800-138287800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chrX:138284800-138287800	Active TSS	K562	blood
15	chrX:138284800-138288000	Active TSS	Psoas Muscle	Psoas
16	chrX:138284800-138288400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chrX:138284800-138288600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chrX:138285000-138285800	Enhancers	Primary hematopoietic stem cells	blood
19	chrX:138285000-138285800	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chrX:138285000-138285800	Weak transcription	HSMMtube	muscle
21	chrX:138285000-138286200	Enhancers	Spleen	Spleen
22	chrX:138285000-138286400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chrX:138285000-138287400	Active TSS	NH-A	brain
24	chrX:138285000-138287800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chrX:138285200-138285800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chrX:138285200-138285800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chrX:138285200-138285800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
28	chrX:138285200-138285800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chrX:138285200-138285800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chrX:138285200-138285800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
31	chrX:138285200-138285800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
32	chrX:138285200-138285800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
33	chrX:138285200-138285800	Weak transcription	NHDF-Ad	bronchial
34	chrX:138285200-138286000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chrX:138285200-138286000	Enhancers	Pancreas	Pancrea
36	chrX:138285200-138286400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chrX:138285200-138286400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
38	chrX:138285200-138287000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chrX:138285200-138287000	Bivalent/Poised TSS	Colonic Mucosa	Colon
40	chrX:138285200-138287600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
41	chrX:138285200-138287800	Active TSS	Brain Anterior Caudate	brain
42	chrX:138285200-138287800	Active TSS	Brain Germinal Matrix	brain
43	chrX:138285200-138288000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chrX:138285200-138288400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chrX:138285200-138288600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
46	chrX:138285400-138285800	Enhancers	Liver	Liver
47	chrX:138285400-138286000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
48	chrX:138285400-138286000	Bivalent Enhancer	Lung	lung
49	chrX:138285400-138286000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
50	chrX:138285400-138286400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum

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