Variant report

Variant	rs5927688
Chromosome Location	chrX:31149175-31149176
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12391957	0.86[CHB][hapmap]
rs12557283	0.86[CHB][hapmap]
rs12687954	0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap]
rs1484855	0.90[ASW][hapmap];0.81[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap]
rs1921383	0.90[CEU][hapmap]
rs1921388	1.00[CEU][hapmap]
rs1921392	0.86[CHB][hapmap]
rs1921394	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs1921710	1.00[CEU][hapmap]
rs2404495	0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap]
rs2404496	0.86[CHB][hapmap]
rs2896876	0.86[CHB][hapmap]
rs3747385	0.82[TSI][hapmap]
rs3788887	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs426228	0.89[CEU][hapmap];0.86[CHB][hapmap]
rs436628	0.90[ASW][hapmap];0.81[CEU][hapmap];0.87[GIH][hapmap];0.87[LWK][hapmap];1.00[TSI][hapmap]
rs4397574	0.84[CHB][hapmap]
rs5926986	0.90[CEU][hapmap]
rs5926987	0.90[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs5927689	0.90[CEU][hapmap];1.00[TSI][hapmap]
rs5972322	1.00[CEU][hapmap]
rs6527061	0.87[TSI][hapmap]
rs7050832	0.84[LWK][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	nsv530449	chrX:30962926-31375215	Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3416705	chrX:31099481-31213379	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31131000-31149400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chrX:31133400-31156200	Weak transcription	Colon Smooth Muscle	Colon
3	chrX:31134000-31188200	Weak transcription	Aorta	Aorta
4	chrX:31135800-31163800	Weak transcription	Rectal Smooth Muscle	rectum
5	chrX:31135800-31182800	Weak transcription	Pancreas	Pancrea
6	chrX:31136200-31154000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chrX:31136200-31156200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chrX:31136600-31150000	Weak transcription	Fetal Intestine Large	intestine
9	chrX:31136800-31155800	Weak transcription	Stomach Smooth Muscle	stomach
10	chrX:31137200-31183000	Weak transcription	Gastric	stomach
11	chrX:31137800-31165200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chrX:31138000-31154200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chrX:31138400-31156200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chrX:31140200-31227600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chrX:31140400-31170200	Strong transcription	Hela-S3	cervix
16	chrX:31140600-31206000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chrX:31141400-31167000	Weak transcription	Right Ventricle	heart
18	chrX:31141800-31152400	Strong transcription	Liver	Liver
19	chrX:31142000-31236600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chrX:31142800-31156200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chrX:31142800-31165600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chrX:31143600-31150600	Weak transcription	Fetal Brain Male	brain
23	chrX:31143600-31150600	Weak transcription	Fetal Muscle Trunk	muscle
24	chrX:31143600-31156400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chrX:31143800-31161600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chrX:31144200-31156000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chrX:31144200-31156000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chrX:31144200-31162400	Weak transcription	Left Ventricle	heart
29	chrX:31144200-31165200	Weak transcription	Brain Hippocampus Middle	brain
30	chrX:31144400-31149400	Weak transcription	HepG2	liver
31	chrX:31144400-31154000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chrX:31144400-31156200	Weak transcription	NH-A	brain
33	chrX:31144400-31157600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chrX:31144800-31150400	Weak transcription	Fetal Muscle Leg	muscle
35	chrX:31144800-31151200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chrX:31144800-31153200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chrX:31144800-31155800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chrX:31144800-31161800	Weak transcription	Ovary	ovary
39	chrX:31145200-31150200	Weak transcription	HSMMtube	muscle
40	chrX:31145400-31165400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chrX:31146400-31156200	Weak transcription	Fetal Intestine Small	intestine
42	chrX:31147800-31154200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chrX:31147800-31155800	Weak transcription	Adipose Nuclei	Adipose
44	chrX:31148600-31149800	Enhancers	Fetal Heart	heart
45	chrX:31148600-31151800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chrX:31148800-31149200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chrX:31149000-31153800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chrX:31149000-31157600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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