Variant report

Variant	rs12310386
Chromosome Location	chr12:123239620-123239621
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123238831..123241480-chr12:123248659..123252365,6	K562	blood:
2	chr12:123106486..123108264-chr12:123238733..123241698,2	K562	blood:
3	chr12:122883132..122886264-chr12:123235650..123239708,3	MCF-7	breast:
4	chr12:123237435..123239674-chr12:123244773..123246396,2	K562	blood:
5	chr12:122984002..122986497-chr12:123237253..123240252,3	MCF-7	breast:
6	chr12:123235308..123239495-chr12:123239510..123247125,14	MCF-7	breast:
7	chr12:123237859..123240331-chr12:123248659..123250733,2	K562	blood:
8	chr12:123236060..123239548-chr12:123239608..123242338,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction
ENSG00000033030	Chromatin interaction
ENSG00000139726	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10466883	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10466884	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11059711	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11059724	0.94[ASN][1000 genomes]
rs11059834	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11059932	0.92[ASN][1000 genomes]
rs11059953	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11059954	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11060064	0.81[CHB][hapmap];0.88[LWK][hapmap];0.83[MKK][hapmap]
rs11060065	0.81[CHB][hapmap]
rs12298293	0.82[ASN][1000 genomes]
rs12302287	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12303150	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12303270	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12303328	1.00[YRI][hapmap]
rs12303951	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12305822	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12307038	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12310901	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12312837	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12313538	0.82[ASN][1000 genomes]
rs12313600	0.82[ASN][1000 genomes]
rs12314544	0.80[CHB][hapmap]
rs12314976	1.00[CEU][hapmap]
rs12315520	0.82[ASN][1000 genomes]
rs12316263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12318871	0.82[ASN][1000 genomes]
rs12319160	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12321100	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12321556	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1260120	0.92[ASN][1000 genomes]
rs1671679	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1671688	0.92[ASN][1000 genomes]
rs1696320	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs1696326	0.92[GIH][hapmap]
rs1799618	0.92[GIH][hapmap]
rs2253504	0.92[ASN][1000 genomes]
rs2649902	0.94[ASN][1000 genomes]
rs2936730	0.90[ASN][1000 genomes]
rs3817095	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4759393	0.86[CHB][hapmap]
rs57366988	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60469279	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61176973	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6489240	0.91[ASN][1000 genomes]
rs652533	0.93[ASN][1000 genomes]
rs701484	0.89[ASN][1000 genomes]
rs7138436	0.92[ASN][1000 genomes]
rs7294991	0.82[CHB][hapmap]
rs7309225	0.82[CHB][hapmap]
rs7311386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7486414	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7966971	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs839360	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs839363	0.91[ASN][1000 genomes]
rs9645762	0.92[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	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123238200-123242600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:123238200-123249400	Weak transcription	Aorta	Aorta
3	chr12:123238400-123239800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
4	chr12:123238400-123239800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr12:123238400-123240200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:123238400-123241200	Weak transcription	Ovary	ovary
7	chr12:123238400-123243000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:123238400-123258000	Strong transcription	Fetal Muscle Trunk	muscle
9	chr12:123238600-123239800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr12:123238600-123239800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
11	chr12:123238600-123240400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr12:123238600-123240800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:123238600-123242400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:123238600-123245200	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:123238600-123248400	Weak transcription	Right Ventricle	heart
16	chr12:123238600-123249000	Weak transcription	Fetal Heart	heart
17	chr12:123238600-123250800	Weak transcription	Stomach Mucosa	stomach
18	chr12:123238600-123255600	Strong transcription	Fetal Intestine Large	intestine
19	chr12:123238600-123255800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr12:123238600-123258800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:123238800-123239800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:123238800-123239800	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr12:123238800-123239800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:123238800-123239800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:123238800-123239800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:123238800-123239800	Genic enhancers	K562	blood
27	chr12:123238800-123240400	Genic enhancers	NHEK	skin
28	chr12:123238800-123240600	Weak transcription	Fetal Intestine Small	intestine
29	chr12:123238800-123240600	Weak transcription	Left Ventricle	heart
30	chr12:123238800-123241000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:123238800-123241000	Weak transcription	HSMMtube	muscle
32	chr12:123238800-123241400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr12:123238800-123241600	Strong transcription	Fetal Stomach	stomach
34	chr12:123238800-123242000	Strong transcription	Psoas Muscle	Psoas
35	chr12:123238800-123242200	Weak transcription	Gastric	stomach
36	chr12:123238800-123242400	Weak transcription	Small Intestine	intestine
37	chr12:123238800-123242600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:123238800-123242600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:123238800-123242600	Weak transcription	Colonic Mucosa	Colon
40	chr12:123238800-123242600	Weak transcription	Spleen	Spleen
41	chr12:123238800-123243200	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:123238800-123243400	Strong transcription	Brain Substantia Nigra	brain
43	chr12:123238800-123244000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:123238800-123244200	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:123238800-123244600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr12:123238800-123245000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:123238800-123245200	Strong transcription	Fetal Lung	lung
48	chr12:123238800-123245400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:123238800-123245400	Weak transcription	Esophagus	oesophagus
50	chr12:123238800-123245600	Strong transcription	Brain Inferior Temporal Lobe	brain

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