Variant report

Variant	rs3020922
Chromosome Location	chr12:11823941-11823942
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:11818842..11821642-chr12:11823610..11825732,2	K562	blood:
2	chr12:11814350..11816547-chr12:11823249..11825105,2	K562	blood:
3	chr12:11823719..11826354-chr12:11826397..11829138,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10491985	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11054413	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12578238	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1861482	0.91[CHB][hapmap]
rs205542	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2111048	1.00[CHB][hapmap]
rs2111049	0.91[CHB][hapmap]
rs2277394	1.00[CEU][hapmap]
rs2416881	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2466582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2541113	1.00[CHB][hapmap]
rs2541122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2541124	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2541127	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2541128	0.91[CHB][hapmap]
rs2541129	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2724590	0.91[CHB][hapmap]
rs2724605	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2724608	0.86[EUR][1000 genomes]
rs2724626	0.91[CHB][hapmap]
rs2724649	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856303	0.81[CHB][hapmap]
rs2856308	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856310	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856311	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856313	0.91[CHB][hapmap]
rs2856316	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2908839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4503633	0.86[EUR][1000 genomes]
rs74062381	1.00[EUR][1000 genomes]
rs74062383	0.86[EUR][1000 genomes]
rs759485	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7963730	1.00[CEU][hapmap]
rs918074	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs928949	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs956753	1.00[CEU][hapmap]
rs9971751	0.86[EUR][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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11807800-11824200	Genic enhancers	Fetal Thymus	thymus
2	chr12:11812000-11825400	Weak transcription	HUVEC	blood vessel
3	chr12:11812200-11832600	Weak transcription	A549	lung
4	chr12:11812200-11837400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:11812400-11830800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:11812800-11825400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:11814400-11827800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:11814800-11826600	Weak transcription	Osteobl	bone
9	chr12:11814800-11829000	Weak transcription	Fetal Intestine Large	intestine
10	chr12:11815000-11825600	Weak transcription	Small Intestine	intestine
11	chr12:11815000-11826600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:11815000-11836800	Weak transcription	NHEK	skin
13	chr12:11815000-11850600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:11815200-11833800	Weak transcription	Colonic Mucosa	Colon
15	chr12:11815200-11837800	Weak transcription	NH-A	brain
16	chr12:11815400-11825800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:11816000-11830800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:11816200-11825200	Weak transcription	Primary T cells from cord blood	blood
19	chr12:11816400-11825200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:11816400-11825600	Weak transcription	Aorta	Aorta
21	chr12:11816400-11826600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr12:11816600-11824200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:11816800-11825200	Weak transcription	Brain Angular Gyrus	brain
24	chr12:11816800-11825200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:11817000-11825200	Weak transcription	Brain Anterior Caudate	brain
26	chr12:11817200-11825000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:11817200-11827000	Weak transcription	HSMM	muscle
28	chr12:11817400-11829800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr12:11817800-11825600	Weak transcription	Esophagus	oesophagus
30	chr12:11818000-11827000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:11818200-11825800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:11818400-11825600	Weak transcription	Fetal Stomach	stomach
33	chr12:11818600-11826600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:11818600-11826800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:11818800-11825600	Weak transcription	Stomach Mucosa	stomach
36	chr12:11819000-11824600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:11819400-11825000	Weak transcription	Fetal Brain Male	brain
38	chr12:11819400-11825200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:11819400-11826400	Weak transcription	NHLF	lung
40	chr12:11819600-11828400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr12:11820000-11825000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:11820000-11825400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:11820200-11825000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:11820200-11825000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:11820200-11825600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:11820200-11825800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr12:11820200-11827000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:11820200-11841000	Weak transcription	Fetal Intestine Small	intestine
49	chr12:11820400-11824600	Weak transcription	Fetal Muscle Leg	muscle
50	chr12:11820400-11825400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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