Variant report

Variant	rs12232996
Chromosome Location	chr2:47701708-47701709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11894352	0.95[EUR][1000 genomes]
rs12999145	0.95[EUR][1000 genomes]
rs13019133	0.85[EUR][1000 genomes]
rs17036614	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs17036639	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17224332	0.85[EUR][1000 genomes]
rs17224339	0.83[EUR][1000 genomes]
rs2042649	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2303428	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3771283	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs6544993	0.85[EUR][1000 genomes]
rs7581381	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7585925	0.95[EUR][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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47631400-47714400	Weak transcription	Right Ventricle	heart
2	chr2:47631800-47704200	Weak transcription	Psoas Muscle	Psoas
3	chr2:47633000-47714000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:47643600-47703400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:47658000-47707000	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:47658000-47714200	Weak transcription	Small Intestine	intestine
7	chr2:47658200-47709200	Weak transcription	Brain Substantia Nigra	brain
8	chr2:47658200-47710400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:47658200-47713400	Weak transcription	Fetal Heart	heart
10	chr2:47658200-47714200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:47658200-47714800	Weak transcription	HSMMtube	muscle
12	chr2:47658200-47724800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:47658400-47713600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:47658400-47716000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:47658800-47712600	Weak transcription	Osteobl	bone
16	chr2:47673800-47712400	Weak transcription	NHDF-Ad	bronchial
17	chr2:47677000-47710800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:47679800-47712600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:47685000-47715000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:47686400-47712600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:47686400-47712600	Strong transcription	Dnd41	blood
22	chr2:47687200-47706800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:47688600-47703000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:47689200-47713000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:47689400-47703000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:47689400-47712800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:47689800-47713000	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr2:47690000-47706800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:47690200-47703600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:47690200-47706600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:47690200-47708200	Strong transcription	Fetal Thymus	thymus
32	chr2:47690200-47711000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:47691000-47702600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:47691000-47714000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr2:47691400-47702200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:47691600-47701800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:47691600-47711600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:47691600-47714200	Weak transcription	Ovary	ovary
39	chr2:47691600-47714400	Weak transcription	Spleen	Spleen
40	chr2:47691600-47715400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:47691600-47715600	Weak transcription	NHEK	skin
42	chr2:47691600-47716000	Weak transcription	Gastric	stomach
43	chr2:47691600-47716000	Weak transcription	Pancreas	Pancrea
44	chr2:47692000-47714400	Weak transcription	Placenta	Placenta
45	chr2:47692200-47712800	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:47692800-47706200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:47692800-47712800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:47692800-47713400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:47693000-47711000	Weak transcription	Brain Angular Gyrus	brain
50	chr2:47693200-47713600	Weak transcription	Rectal Smooth Muscle	rectum

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