Variant report

Variant	rs184343453
Chromosome Location	chrX:138913014-138913015
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:138907383..138910299-chrX:138911001..138913816,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv917353	chrX:138912620-139283492	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:138855000-138915400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chrX:138868200-138913600	Weak transcription	Left Ventricle	heart
3	chrX:138868600-138914000	Weak transcription	Stomach Smooth Muscle	stomach
4	chrX:138869000-138915600	Weak transcription	Fetal Stomach	stomach
5	chrX:138870600-138913400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chrX:138880200-138913600	Weak transcription	Primary B cells from cord blood	blood
7	chrX:138881400-138913800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chrX:138884000-138913600	Weak transcription	Fetal Thymus	thymus
9	chrX:138884400-138913600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chrX:138899800-138914200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chrX:138900000-138913400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chrX:138900200-138913400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chrX:138900200-138915200	Weak transcription	Brain Germinal Matrix	brain
14	chrX:138900600-138913600	Weak transcription	Primary B cells from peripheral blood	blood
15	chrX:138903600-138913600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chrX:138907000-138916800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chrX:138907200-138916000	Enhancers	Liver	Liver
18	chrX:138907600-138914200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chrX:138908200-138917000	Weak transcription	K562	blood
20	chrX:138908400-138913200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chrX:138908400-138913200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chrX:138908400-138913600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chrX:138908400-138913600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chrX:138909000-138913800	Weak transcription	Duodenum Mucosa	Duodenum
25	chrX:138909200-138914000	Weak transcription	HSMM	muscle
26	chrX:138909400-138913200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chrX:138909400-138913200	Weak transcription	NHLF	lung
28	chrX:138909400-138913600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chrX:138909600-138913200	Weak transcription	HUVEC	blood vessel
30	chrX:138909600-138913600	Weak transcription	NH-A	brain
31	chrX:138909800-138923200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chrX:138910200-138915200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chrX:138910600-138914200	Weak transcription	A549	lung
34	chrX:138910600-138915600	Weak transcription	Fetal Intestine Small	intestine
35	chrX:138910600-138916400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chrX:138910800-138915600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chrX:138911200-138913200	Weak transcription	Stomach Mucosa	stomach
38	chrX:138911200-138913400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chrX:138911200-138915000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chrX:138911400-138914400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chrX:138911800-138913200	Weak transcription	Rectal Smooth Muscle	rectum
42	chrX:138911800-138913400	Weak transcription	NHDF-Ad	bronchial
43	chrX:138911800-138914200	Weak transcription	HMEC	breast
44	chrX:138911800-138914800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chrX:138912200-138915800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chrX:138912400-138913200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chrX:138912400-138913400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chrX:138912400-138913600	Weak transcription	Colon Smooth Muscle	Colon
49	chrX:138912400-138914800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chrX:138912400-138914800	Enhancers	Cortex derived primary cultured neurospheres	brain

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