Variant report

Variant	rs7695054
Chromosome Location	chr4:85763020-85763021
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11097026	0.81[EUR][1000 genomes]
rs11097028	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12500519	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12501525	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12502294	0.82[EUR][1000 genomes]
rs12502409	0.87[EUR][1000 genomes]
rs12502559	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12503330	0.85[EUR][1000 genomes]
rs13108722	0.80[EUR][1000 genomes]
rs13118671	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13125323	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13139541	0.86[EUR][1000 genomes]
rs13141072	0.84[EUR][1000 genomes]
rs1484661	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1508670	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16995920	0.81[EUR][1000 genomes]
rs17009317	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17009334	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2046404	0.81[EUR][1000 genomes]
rs35190829	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35892581	0.85[EUR][1000 genomes]
rs4383611	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4590017	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55871210	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55912355	0.82[EUR][1000 genomes]
rs56094216	0.86[EUR][1000 genomes]
rs58074983	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6531783	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs66965560	0.82[EUR][1000 genomes]
rs67624868	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6815917	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6816534	0.83[EUR][1000 genomes]
rs6820517	0.88[EUR][1000 genomes]
rs6825852	0.81[EUR][1000 genomes]
rs6829807	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6838727	0.81[EUR][1000 genomes]
rs6847564	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71631375	0.82[EUR][1000 genomes]
rs72664928	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72664957	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7682896	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7690054	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7692223	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]

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	esv1829655	chr4:85577491-86292692	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv532738	chr4:85590841-85777997	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv427684	chr4:85668487-85863446	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv519588	chr4:85762385-86591202	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85697400-85772800	Weak transcription	Small Intestine	intestine
2	chr4:85701600-85783000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:85705400-85770000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:85708600-85777400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:85709000-85769600	Weak transcription	Right Ventricle	heart
6	chr4:85709000-85781600	Weak transcription	Esophagus	oesophagus
7	chr4:85709200-85770200	Weak transcription	Psoas Muscle	Psoas
8	chr4:85722200-85787600	Weak transcription	Gastric	stomach
9	chr4:85723000-85821000	Weak transcription	Pancreas	Pancrea
10	chr4:85723200-85770400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:85723200-85777000	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:85724000-85781400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:85724000-85786600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:85724200-85769600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr4:85727800-85783200	Weak transcription	Colonic Mucosa	Colon
16	chr4:85731400-85769600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:85731400-85791600	Weak transcription	Lung	lung
18	chr4:85731800-85769600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:85735800-85777000	Weak transcription	Aorta	Aorta
20	chr4:85736400-85769600	Weak transcription	A549	lung
21	chr4:85736400-85790600	Weak transcription	NHEK	skin
22	chr4:85739400-85777000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:85742600-85783200	Weak transcription	Fetal Brain Male	brain
24	chr4:85742800-85769600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr4:85742800-85777000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:85747200-85769600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr4:85747800-85768000	Weak transcription	HepG2	liver
28	chr4:85749400-85769600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:85750400-85769600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:85751600-85783000	Weak transcription	Stomach Mucosa	stomach
31	chr4:85751800-85770000	Weak transcription	HMEC	breast
32	chr4:85752000-85769600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:85752000-85769600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr4:85752200-85768000	Weak transcription	NHDF-Ad	bronchial
35	chr4:85753200-85783400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr4:85754400-85763200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr4:85755000-85769800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:85755200-85764200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:85755600-85763400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr4:85756600-85769600	Weak transcription	Brain Hippocampus Middle	brain
41	chr4:85757200-85767600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:85757600-85769600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr4:85759400-85765800	Weak transcription	NH-A	brain
44	chr4:85759400-85768200	Weak transcription	Brain Substantia Nigra	brain
45	chr4:85759600-85769200	Weak transcription	Fetal Heart	heart
46	chr4:85759800-85763200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:85759800-85763200	Strong transcription	Adipose Nuclei	Adipose
48	chr4:85760200-85777000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr4:85760800-85783400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr4:85761400-85767800	Weak transcription	Rectal Mucosa Donor 31	rectum

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