Variant report

Variant	rs57871563
Chromosome Location	chr12:29475032-29475033
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs61476653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7296053	1.00[AMR][1000 genomes]
rs7311446	1.00[AMR][1000 genomes]
rs73271565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73273343	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73273346	1.00[AMR][1000 genomes]
rs73273351	1.00[AMR][1000 genomes]
rs73273355	1.00[AMR][1000 genomes]
rs73273359	1.00[AMR][1000 genomes]
rs73273363	1.00[AMR][1000 genomes]
rs73273364	1.00[AMR][1000 genomes]
rs73273368	1.00[AMR][1000 genomes]
rs73273385	1.00[AMR][1000 genomes]
rs73274821	1.00[AMR][1000 genomes]
rs73274900	1.00[AMR][1000 genomes]
rs73276814	1.00[AMR][1000 genomes]
rs73278713	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29427200-29527400	Weak transcription	Small Intestine	intestine
2	chr12:29452800-29494200	Weak transcription	Lung	lung
3	chr12:29453800-29480000	Weak transcription	Gastric	stomach
4	chr12:29454600-29475800	Weak transcription	Spleen	Spleen
5	chr12:29455200-29489400	Weak transcription	Primary B cells from cord blood	blood
6	chr12:29459400-29493000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:29459600-29476000	Weak transcription	Fetal Thymus	thymus
8	chr12:29460200-29476000	Weak transcription	Fetal Stomach	stomach
9	chr12:29461200-29486200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:29462600-29533000	Weak transcription	Aorta	Aorta
11	chr12:29463800-29475400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:29464000-29476000	Weak transcription	Fetal Kidney	kidney
13	chr12:29465000-29494200	Weak transcription	Colonic Mucosa	Colon
14	chr12:29466200-29488800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:29467200-29475800	Weak transcription	Pancreas	Pancrea
16	chr12:29468600-29491000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:29470000-29475200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:29470000-29475600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:29470000-29475800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:29470000-29486400	Weak transcription	Psoas Muscle	Psoas
21	chr12:29470000-29495600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:29470000-29500000	Weak transcription	K562	blood
23	chr12:29470200-29475200	Weak transcription	Primary T cells from cord blood	blood
24	chr12:29470600-29475200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:29470600-29475400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr12:29470800-29475200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr12:29470800-29475200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:29470800-29475200	Weak transcription	Dnd41	blood
29	chr12:29470800-29475400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:29470800-29485800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:29470800-29492800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:29470800-29492800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:29470800-29493400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:29470800-29493800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:29470800-29496000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:29470800-29508400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:29470800-29532800	Weak transcription	Right Ventricle	heart
38	chr12:29471000-29475600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:29471200-29475200	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:29471200-29477200	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr12:29471200-29491400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr12:29471200-29493000	Weak transcription	Brain Substantia Nigra	brain
43	chr12:29471200-29494400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr12:29471400-29495800	Weak transcription	Brain Anterior Caudate	brain
45	chr12:29471600-29476000	Weak transcription	Fetal Intestine Small	intestine
46	chr12:29471600-29492600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr12:29472200-29493800	Weak transcription	Left Ventricle	heart
48	chr12:29472800-29475600	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr12:29473000-29475200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:29473000-29475200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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