Variant report

Variant	rs6653848
Chromosome Location	chrX:31154097-31154098
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12391957	1.00[CEU][hapmap]
rs12557265	1.00[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap]
rs12557283	1.00[CEU][hapmap]
rs12687954	1.00[CEU][hapmap]
rs1484854	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1484855	0.83[CEU][hapmap]
rs1921385	1.00[CEU][hapmap]
rs1921386	1.00[CEU][hapmap]
rs1921394	0.89[CEU][hapmap]
rs1921395	1.00[CEU][hapmap]
rs2178538	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs2404495	1.00[CEU][hapmap]
rs2404496	1.00[CEU][hapmap]
rs2404497	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs2896876	1.00[CEU][hapmap]
rs3747385	1.00[CEU][hapmap];0.91[CHB][hapmap]
rs3788887	0.92[CEU][hapmap]
rs426228	0.82[CEU][hapmap]
rs436628	0.83[CEU][hapmap]
rs4397574	1.00[CEU][hapmap]
rs4829210	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs5926986	0.93[CHB][hapmap]
rs5927689	0.91[CHB][hapmap]
rs5972325	0.90[CEU][hapmap];0.90[CHB][hapmap]
rs5972328	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs6527061	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs6527062	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs7057738	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs9988310	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31133400-31156200	Weak transcription	Colon Smooth Muscle	Colon
2	chrX:31134000-31188200	Weak transcription	Aorta	Aorta
3	chrX:31135800-31163800	Weak transcription	Rectal Smooth Muscle	rectum
4	chrX:31135800-31182800	Weak transcription	Pancreas	Pancrea
5	chrX:31136200-31156200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chrX:31136800-31155800	Weak transcription	Stomach Smooth Muscle	stomach
7	chrX:31137200-31183000	Weak transcription	Gastric	stomach
8	chrX:31137800-31165200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chrX:31138000-31154200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chrX:31138400-31156200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chrX:31140200-31227600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chrX:31140400-31170200	Strong transcription	Hela-S3	cervix
13	chrX:31140600-31206000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chrX:31141400-31167000	Weak transcription	Right Ventricle	heart
15	chrX:31142000-31236600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chrX:31142800-31156200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chrX:31142800-31165600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chrX:31143600-31156400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chrX:31143800-31161600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chrX:31144200-31156000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chrX:31144200-31156000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chrX:31144200-31162400	Weak transcription	Left Ventricle	heart
23	chrX:31144200-31165200	Weak transcription	Brain Hippocampus Middle	brain
24	chrX:31144400-31156200	Weak transcription	NH-A	brain
25	chrX:31144400-31157600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chrX:31144800-31155800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chrX:31144800-31161800	Weak transcription	Ovary	ovary
28	chrX:31145400-31165400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chrX:31146400-31156200	Weak transcription	Fetal Intestine Small	intestine
30	chrX:31147800-31154200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chrX:31147800-31155800	Weak transcription	Adipose Nuclei	Adipose
32	chrX:31149000-31157600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chrX:31149800-31155800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chrX:31149800-31156000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chrX:31149800-31156400	Weak transcription	Fetal Heart	heart
36	chrX:31150400-31163000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chrX:31151000-31155800	Weak transcription	HSMMtube	muscle
38	chrX:31151200-31154200	Weak transcription	Thymus	Thymus
39	chrX:31151400-31156600	Weak transcription	Fetal Intestine Large	intestine
40	chrX:31151600-31156000	Weak transcription	Fetal Muscle Trunk	muscle
41	chrX:31151600-31183400	Weak transcription	HepG2	liver
42	chrX:31152200-31156200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chrX:31152400-31154400	Weak transcription	Liver	Liver
44	chrX:31152400-31155800	Weak transcription	Fetal Muscle Leg	muscle
45	chrX:31153200-31154400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chrX:31153600-31154200	Enhancers	Dnd41	blood
47	chrX:31153600-31155200	Enhancers	Primary T cells from cord blood	blood
48	chrX:31153800-31154400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chrX:31153800-31155000	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chrX:31153800-31155400	Enhancers	Primary B cells from peripheral blood	blood

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