Variant report

Variant	rs12557265
Chromosome Location	chrX:31183595-31183596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12391957	1.00[CEU][hapmap]
rs12557283	1.00[CEU][hapmap]
rs12687954	1.00[CEU][hapmap]
rs1484854	1.00[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap]
rs1484855	0.83[CEU][hapmap]
rs1921383	0.83[CHB][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];1.00[CHB][hapmap]
rs2404495	1.00[CEU][hapmap]
rs2404496	1.00[CEU][hapmap]
rs2404497	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap]
rs2896876	1.00[CEU][hapmap]
rs3747385	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][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];0.91[CHB][hapmap]
rs5926986	0.85[CHB][hapmap]
rs5927689	0.82[CHB][hapmap]
rs5972325	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs5972328	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap]
rs6527061	1.00[CEU][hapmap];0.91[CHB][hapmap]
rs6527062	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs6653848	1.00[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap]
rs7057738	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs9988310	0.91[CEU][hapmap];0.84[CHB][hapmap];0.86[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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31134000-31188200	Weak transcription	Aorta	Aorta
2	chrX:31140200-31227600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chrX:31140600-31206000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chrX:31142000-31236600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chrX:31156400-31187800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chrX:31156800-31224800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chrX:31161800-31199800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chrX:31163000-31209000	Weak transcription	Ovary	ovary
9	chrX:31163800-31184600	Weak transcription	HSMMtube	muscle
10	chrX:31164600-31188000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chrX:31164600-31196000	Weak transcription	Left Ventricle	heart
12	chrX:31164800-31189600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chrX:31165000-31185200	Weak transcription	Adipose Nuclei	Adipose
14	chrX:31165000-31203400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chrX:31166000-31196000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chrX:31167800-31183600	Weak transcription	Liver	Liver
17	chrX:31172000-31187800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chrX:31173600-31193600	Strong transcription	Hela-S3	cervix
19	chrX:31177800-31202800	Weak transcription	Brain Angular Gyrus	brain
20	chrX:31178000-31186000	Weak transcription	Fetal Muscle Leg	muscle
21	chrX:31181600-31183800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chrX:31182000-31184400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chrX:31182000-31227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chrX:31182800-31184200	Weak transcription	Fetal Muscle Trunk	muscle
25	chrX:31182800-31185000	Weak transcription	Fetal Heart	heart
26	chrX:31183000-31183800	Enhancers	Stomach Mucosa	stomach
27	chrX:31183000-31184600	Weak transcription	Pancreas	Pancrea
28	chrX:31183000-31199800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chrX:31183400-31184800	Enhancers	HepG2	liver
30	chrX:31183400-31186000	Weak transcription	Fetal Intestine Large	intestine
31	chrX:31183400-31186000	Weak transcription	Fetal Intestine Small	intestine

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