Variant report

Variant	rs10880941
Chromosome Location	chr12:46617649-46617650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46616647..46618476-chr12:46627420..46629335,2	K562	blood:
2	chr12:46612067..46613640-chr12:46616342..46619054,2	K562	blood:
3	chr12:46614847..46617815-chr12:46786791..46788512,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10160965	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10219550	1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10880936	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10880937	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880938	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880940	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10880942	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11183397	0.91[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11183401	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12307102	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1822740	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1822741	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2125644	1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs57668910	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58776177	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7953774	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7965237	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7971883	1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs7975060	0.99[ASN][1000 genomes]
rs7980222	0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs963325	1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46592800-46654200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:46596000-46618200	Weak transcription	Aorta	Aorta
3	chr12:46597600-46659600	Weak transcription	Colonic Mucosa	Colon
4	chr12:46604000-46623400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:46604000-46633800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:46604000-46637400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:46604400-46618600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:46608400-46618200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:46609200-46618600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr12:46610200-46619000	Weak transcription	Psoas Muscle	Psoas
11	chr12:46610400-46624000	Weak transcription	Pancreas	Pancrea
12	chr12:46610600-46640000	Weak transcription	Esophagus	oesophagus
13	chr12:46612200-46618200	Genic enhancers	NHEK	skin
14	chr12:46612400-46618400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:46612600-46618400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:46613200-46618800	Strong transcription	HepG2	liver
17	chr12:46613200-46619200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr12:46613200-46619600	Enhancers	Colon Smooth Muscle	Colon
19	chr12:46613200-46619800	Genic enhancers	Primary B cells from peripheral blood	blood
20	chr12:46613400-46618000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:46613400-46619600	Genic enhancers	Primary B cells from cord blood	blood
22	chr12:46613400-46621400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:46613800-46617800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:46613800-46618000	Weak transcription	Left Ventricle	heart
25	chr12:46613800-46619000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:46613800-46639800	Weak transcription	Lung	lung
27	chr12:46614000-46617800	Weak transcription	Adipose Nuclei	Adipose
28	chr12:46614000-46624200	Weak transcription	Fetal Brain Male	brain
29	chr12:46614200-46618000	Weak transcription	Spleen	Spleen
30	chr12:46614200-46618200	Weak transcription	Fetal Intestine Large	intestine
31	chr12:46614200-46619400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr12:46614400-46617800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:46614400-46621600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr12:46614400-46627400	Weak transcription	Right Ventricle	heart
35	chr12:46614600-46617800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr12:46614600-46617800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr12:46614600-46618000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:46614600-46619800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
39	chr12:46615200-46618000	Weak transcription	Small Intestine	intestine
40	chr12:46615200-46619200	Weak transcription	Fetal Intestine Small	intestine
41	chr12:46615400-46618800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:46615600-46618000	Weak transcription	Brain Germinal Matrix	brain
43	chr12:46615600-46632400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:46615600-46636600	Weak transcription	Brain Anterior Caudate	brain
45	chr12:46615800-46617800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:46615800-46617800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:46615800-46617800	Weak transcription	Brain Substantia Nigra	brain
48	chr12:46615800-46617800	Weak transcription	Fetal Muscle Leg	muscle
49	chr12:46615800-46617800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr12:46615800-46617800	Weak transcription	NHDF-Ad	bronchial

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