Variant report

Variant	rs2081485
Chromosome Location	chr2:47653360-47653361
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11125136	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11684661	0.82[EUR][1000 genomes]
rs11886591	0.82[EUR][1000 genomes]
rs11889077	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12712993	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1981927	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1981928	0.85[ASN][1000 genomes]
rs2081483	0.92[ASN][1000 genomes]
rs2081484	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2162121	0.82[ASN][1000 genomes]
rs2347794	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2347795	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3771272	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3771273	0.80[EUR][1000 genomes]
rs3771274	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3771275	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3771276	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4452202	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4596025	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6544989	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6544990	0.82[ASN][1000 genomes]
rs6704794	0.80[EUR][1000 genomes]
rs6707467	0.84[EUR][1000 genomes]
rs6719539	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6720555	0.81[EUR][1000 genomes]
rs6724382	0.82[ASN][1000 genomes]
rs6724876	0.82[ASN][1000 genomes]
rs6726691	0.86[ASN][1000 genomes]
rs6726832	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6739590	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6741139	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6758327	0.82[ASN][1000 genomes]
rs7575871	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7607076	0.87[ASN][1000 genomes]
rs7607312	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv527823	chr2:47645249-47709704	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47631400-47657400	Weak transcription	HSMMtube	muscle
2	chr2:47631400-47697000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:47631400-47714400	Weak transcription	Right Ventricle	heart
4	chr2:47631600-47657400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:47631800-47657000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:47631800-47657400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:47631800-47657400	Weak transcription	Brain Angular Gyrus	brain
8	chr2:47631800-47657400	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:47631800-47657400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:47631800-47657400	Weak transcription	Small Intestine	intestine
11	chr2:47631800-47657600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:47631800-47659400	Weak transcription	Right Atrium	heart
13	chr2:47631800-47672000	Weak transcription	Pancreas	Pancrea
14	chr2:47631800-47696600	Weak transcription	Esophagus	oesophagus
15	chr2:47631800-47700000	Weak transcription	Colonic Mucosa	Colon
16	chr2:47631800-47704200	Weak transcription	Psoas Muscle	Psoas
17	chr2:47632600-47659600	Strong transcription	Fetal Thymus	thymus
18	chr2:47632800-47659600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:47633000-47659600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:47633000-47659600	Strong transcription	Fetal Stomach	stomach
21	chr2:47633000-47714000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:47634000-47654200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:47634600-47657600	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:47634600-47657600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr2:47634600-47657800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:47634800-47657000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:47634800-47658800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:47634800-47659600	Strong transcription	Dnd41	blood
29	chr2:47635000-47657600	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr2:47635000-47657600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:47635600-47657800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:47636800-47659600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:47637200-47657600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:47637600-47658000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:47637800-47657600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:47639200-47657200	Weak transcription	Gastric	stomach
37	chr2:47639600-47657600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr2:47641400-47657000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:47642200-47657400	Weak transcription	Brain Substantia Nigra	brain
40	chr2:47642400-47657000	Weak transcription	Adipose Nuclei	Adipose
41	chr2:47642400-47657200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr2:47643200-47657400	Weak transcription	Aorta	Aorta
43	chr2:47643400-47657400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:47643600-47657200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:47643600-47657400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr2:47643600-47703400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:47644000-47657400	Weak transcription	Fetal Heart	heart
48	chr2:47644200-47656600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:47644600-47657400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr2:47644800-47657000	Weak transcription	Duodenum Mucosa	Duodenum

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