Variant report

Variant	rs34152211
Chromosome Location	chr12:42512304-42512305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11610892	0.98[EUR][1000 genomes]
rs11613623	0.96[EUR][1000 genomes]
rs12812574	0.91[AMR][1000 genomes]
rs12813181	0.96[EUR][1000 genomes]
rs12819127	0.98[EUR][1000 genomes]
rs12824857	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1492364	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1872444	0.98[EUR][1000 genomes]
rs34329231	0.98[EUR][1000 genomes]
rs34331898	0.96[EUR][1000 genomes]
rs34669984	0.93[EUR][1000 genomes]
rs34827386	0.87[EUR][1000 genomes]
rs34842994	0.98[EUR][1000 genomes]
rs35644702	0.94[EUR][1000 genomes]
rs35682620	0.96[EUR][1000 genomes]
rs35986152	0.95[EUR][1000 genomes]
rs4332578	0.97[AMR][1000 genomes]
rs56142563	0.94[EUR][1000 genomes]
rs61279714	0.87[EUR][1000 genomes]
rs67420641	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67788023	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv983314	chr12:42511511-42513653	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42471800-42524400	Weak transcription	Esophagus	oesophagus
2	chr12:42474600-42514400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:42474600-42518800	Weak transcription	Brain Anterior Caudate	brain
4	chr12:42476000-42524400	Weak transcription	Gastric	stomach
5	chr12:42476200-42524400	Weak transcription	Pancreas	Pancrea
6	chr12:42476600-42523800	Weak transcription	Hela-S3	cervix
7	chr12:42484400-42524800	Weak transcription	Right Ventricle	heart
8	chr12:42486000-42513000	Weak transcription	Aorta	Aorta
9	chr12:42488600-42518600	Weak transcription	Fetal Brain Male	brain
10	chr12:42492200-42512400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:42492200-42518600	Weak transcription	K562	blood
12	chr12:42493000-42524400	Weak transcription	Brain Substantia Nigra	brain
13	chr12:42493000-42534400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:42493200-42518400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:42493200-42519200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:42497200-42518800	Weak transcription	Psoas Muscle	Psoas
17	chr12:42498800-42513000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:42499000-42516800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:42499400-42518800	Weak transcription	Fetal Kidney	kidney
20	chr12:42501000-42518800	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:42504800-42514600	Weak transcription	Spleen	Spleen
22	chr12:42505600-42516800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:42505800-42515200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:42505800-42518400	Weak transcription	Fetal Intestine Small	intestine
25	chr12:42505800-42518800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr12:42505800-42518800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:42505800-42518800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:42505800-42522400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:42505800-42537000	Weak transcription	Fetal Stomach	stomach
30	chr12:42505800-42537000	Weak transcription	Lung	lung
31	chr12:42507400-42515200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr12:42508400-42524600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:42508800-42517000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:42509600-42519400	Weak transcription	Fetal Muscle Leg	muscle
35	chr12:42509800-42513600	Weak transcription	Colonic Mucosa	Colon
36	chr12:42509800-42518600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr12:42509800-42518800	Weak transcription	Brain Germinal Matrix	brain
38	chr12:42510000-42518800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:42510800-42514000	Weak transcription	Fetal Thymus	thymus
40	chr12:42511000-42512800	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr12:42511000-42518800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:42511200-42512400	Strong transcription	Placenta	Placenta
43	chr12:42511200-42512400	Strong transcription	HSMM	muscle
44	chr12:42511200-42512600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr12:42511200-42512600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr12:42511200-42512600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr12:42511200-42512800	Strong transcription	Liver	Liver
48	chr12:42511200-42513000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr12:42511200-42513200	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr12:42511200-42519000	Weak transcription	Brain Cingulate Gyrus	brain

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