Variant report

Variant	rs5926995
Chromosome Location	chrX:31231171-31231172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1317640	0.90[JPT][hapmap];1.00[MEX][hapmap]
rs1317641	0.80[JPT][hapmap];0.91[MEX][hapmap]
rs1882265	0.90[JPT][hapmap];0.84[MEX][hapmap]
rs1921381	0.84[MEX][hapmap]
rs5926996	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5926997	0.94[CHD][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv869389	chrX:31207964-31963300	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv481896	chrX:31212683-31546984	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3407256	chrX:31214281-31548379	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31142000-31236600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chrX:31204400-31231600	Weak transcription	Colon Smooth Muscle	Colon
3	chrX:31205600-31231200	Weak transcription	HSMMtube	muscle
4	chrX:31212600-31231600	Weak transcription	Stomach Smooth Muscle	stomach
5	chrX:31214200-31240600	Weak transcription	Brain Angular Gyrus	brain
6	chrX:31215200-31250400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chrX:31215600-31231400	Weak transcription	Fetal Muscle Leg	muscle
8	chrX:31216000-31248200	Weak transcription	Psoas Muscle	Psoas
9	chrX:31216600-31235400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chrX:31218000-31231400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chrX:31218200-31231600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chrX:31218400-31238200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chrX:31218400-31250200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chrX:31218600-31231200	Weak transcription	Right Ventricle	heart
15	chrX:31219000-31239000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chrX:31219200-31250200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chrX:31219800-31240800	Weak transcription	Brain Hippocampus Middle	brain
18	chrX:31220000-31241800	Weak transcription	Pancreas	Pancrea
19	chrX:31220400-31234600	Weak transcription	Left Ventricle	heart
20	chrX:31220400-31234800	Weak transcription	Fetal Intestine Small	intestine
21	chrX:31221200-31240800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chrX:31223200-31231200	Weak transcription	Rectal Smooth Muscle	rectum
23	chrX:31227800-31231200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chrX:31227800-31238400	Weak transcription	HepG2	liver
25	chrX:31227800-31239000	Weak transcription	Osteobl	bone
26	chrX:31228000-31253800	Weak transcription	Liver	Liver
27	chrX:31229600-31232200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chrX:31230000-31234800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chrX:31230200-31232000	Genic enhancers	Hela-S3	cervix
30	chrX:31230400-31232200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chrX:31230600-31231800	Enhancers	HUVEC	blood vessel
32	chrX:31230600-31232000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chrX:31230600-31232200	Enhancers	HMEC	breast
34	chrX:31230800-31231600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chrX:31230800-31231800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chrX:31230800-31231800	Enhancers	NHEK	skin
37	chrX:31230800-31232800	Enhancers	Fetal Heart	heart

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