Variant report

Variant	rs7592283
Chromosome Location	chr2:153344389-153344390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10173899	0.82[ASN][1000 genomes]
rs10180542	0.81[ASN][1000 genomes]
rs10194603	0.85[ASN][1000 genomes]
rs10208776	0.96[ASN][1000 genomes]
rs10432493	0.87[ASN][1000 genomes]
rs12616906	0.99[ASN][1000 genomes]
rs12693378	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13424038	0.82[ASN][1000 genomes]
rs13427990	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16831169	0.83[ASN][1000 genomes]
rs16831174	0.82[ASN][1000 genomes]
rs2078444	0.95[ASN][1000 genomes]
rs2346205	0.82[ASN][1000 genomes]
rs2346209	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2881339	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4143274	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4146259	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4664112	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4664587	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4664589	0.82[ASN][1000 genomes]
rs4664590	0.82[ASN][1000 genomes]
rs58121347	0.82[ASN][1000 genomes]
rs59965317	0.90[ASN][1000 genomes]
rs6434059	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6434060	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6434061	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6434062	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6725661	0.82[ASN][1000 genomes]
rs6748954	0.82[ASN][1000 genomes]
rs73968029	0.83[ASN][1000 genomes]
rs7559217	0.89[ASN][1000 genomes]
rs7582984	0.81[ASN][1000 genomes]
rs7586195	0.81[ASN][1000 genomes]
rs7587794	0.82[ASN][1000 genomes]
rs7590207	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7593411	0.80[ASN][1000 genomes]
rs7606592	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv875292	chr2:153308471-153357383	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv2830258	chr2:153318339-153349165	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153326200-153345800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:153330800-153347400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:153334400-153353800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:153336000-153347600	Weak transcription	Aorta	Aorta
5	chr2:153338400-153345600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:153338400-153345800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:153338600-153346600	Weak transcription	Colonic Mucosa	Colon
8	chr2:153338600-153353400	Weak transcription	NHEK	skin
9	chr2:153339400-153345600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:153340400-153346800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:153340600-153345400	Weak transcription	Ovary	ovary
12	chr2:153340600-153347400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:153340600-153354200	Weak transcription	Small Intestine	intestine
14	chr2:153341000-153345200	Weak transcription	Fetal Stomach	stomach
15	chr2:153341200-153345200	Weak transcription	Lung	lung
16	chr2:153342000-153344600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr2:153342000-153345800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:153342000-153349000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:153342000-153351600	Enhancers	Brain Substantia Nigra	brain
20	chr2:153342000-153351800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:153342200-153344400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:153342400-153344800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:153342400-153350000	Weak transcription	Right Ventricle	heart
24	chr2:153342600-153355800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:153342800-153344800	Enhancers	Fetal Intestine Small	intestine
26	chr2:153342800-153344800	Weak transcription	Pancreas	Pancrea
27	chr2:153342800-153345000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:153342800-153345000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:153342800-153345400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:153342800-153345400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:153342800-153345400	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:153342800-153346600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:153343000-153344400	Weak transcription	Psoas Muscle	Psoas
34	chr2:153343000-153345600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:153343000-153345600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr2:153343000-153345600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:153343000-153345800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:153343000-153347800	Weak transcription	Stomach Mucosa	stomach
39	chr2:153343000-153360600	Enhancers	Brain Anterior Caudate	brain
40	chr2:153343200-153345600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:153343200-153345800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:153343200-153345800	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:153343200-153346000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:153343200-153346600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr2:153343200-153347200	Enhancers	Brain Hippocampus Middle	brain
46	chr2:153343200-153347400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:153343200-153350000	Weak transcription	HUVEC	blood vessel
48	chr2:153343400-153345400	Weak transcription	Brain Angular Gyrus	brain
49	chr2:153343400-153347000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr2:153343400-153348200	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links