Variant report

Variant	rs12124666
Chromosome Location	chr1:214491961-214491962
allele	C/T
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	chr1:214451643..214456693-chr1:214488650..214497237,17	MCF-7	breast:
2	chr1:214491270..214493161-chr1:214493280..214496080,3	K562	blood:
3	chr1:214486908..214488467-chr1:214490018..214492049,2	K562	blood:
4	chr1:214489124..214492029-chr1:214494142..214496979,2	MCF-7	breast:
5	chr1:214487556..214489408-chr1:214491187..214493754,2	K562	blood:
6	chr1:214452770..214455345-chr1:214490734..214492332,2	MCF-7	breast:
7	chr1:214491130..214494829-chr1:214496540..214499830,3	K562	blood:
8	chr1:214477573..214480813-chr1:214491684..214493697,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143499	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1005709	0.97[ASN][1000 genomes]
rs10735513	0.83[ASN][1000 genomes]
rs10779613	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10864092	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs11120290	0.80[JPT][hapmap];0.94[ASN][1000 genomes]
rs11120292	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11120295	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs1134647	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1135352	0.86[CHB][hapmap]
rs12024395	0.96[ASN][1000 genomes]
rs12057464	0.82[JPT][hapmap];0.96[ASN][1000 genomes]
rs12137369	0.82[ASN][1000 genomes]
rs2270704	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2291830	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2936017	0.86[CHB][hapmap]
rs3002297	0.86[CHB][hapmap]
rs3002300	0.86[CHB][hapmap]
rs3002303	0.86[CHB][hapmap]
rs3002307	0.86[CHB][hapmap]
rs3013451	0.86[CHB][hapmap]
rs4655242	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs4655245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4655325	1.00[AFR][1000 genomes]
rs4655329	0.85[CEU][hapmap]
rs4655331	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4655335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6419473	0.82[ASN][1000 genomes]
rs6419474	1.00[CEU][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs6540815	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs6540817	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs6540818	0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs6540819	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs6540820	0.96[ASN][1000 genomes]
rs6540821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6540822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6660940	0.98[ASN][1000 genomes]
rs6662275	0.96[ASN][1000 genomes]
rs6662864	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs6665343	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs6670066	0.93[ASN][1000 genomes]
rs6670349	0.83[ASN][1000 genomes]
rs6673096	0.97[ASN][1000 genomes]
rs6676709	0.91[CHB][hapmap];0.85[CHD][hapmap];0.83[ASN][1000 genomes]
rs6677732	1.00[CEU][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs6687411	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs6691083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6700976	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs6701764	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs7417393	1.00[AFR][1000 genomes]
rs7419021	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs7512745	1.00[CHB][hapmap];0.92[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7519274	0.85[ASN][1000 genomes]
rs766499	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs9429915	0.93[ASN][1000 genomes]
rs9429918	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9970083	0.91[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214471000-214517400	Weak transcription	Fetal Kidney	kidney
2	chr1:214476600-214492200	Weak transcription	K562	blood
3	chr1:214477200-214492200	Weak transcription	Aorta	Aorta
4	chr1:214477400-214492200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:214477400-214506400	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:214477400-214506400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:214477400-214511000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:214478800-214492200	Weak transcription	Esophagus	oesophagus
9	chr1:214479000-214503000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:214479400-214493000	Enhancers	Fetal Heart	heart
11	chr1:214482200-214510600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:214483600-214492200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:214483600-214501600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:214484400-214499800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:214484400-214510800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:214484800-214492200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr1:214484800-214501800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:214484800-214507800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:214484800-214522000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:214485000-214492200	Weak transcription	Fetal Brain Female	brain
21	chr1:214485000-214506400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:214485000-214513200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:214485600-214499600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:214485800-214499600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:214486000-214492400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:214486200-214526000	Weak transcription	Psoas Muscle	Psoas
27	chr1:214486800-214492400	Weak transcription	Right Atrium	heart
28	chr1:214487000-214492200	Weak transcription	Gastric	stomach
29	chr1:214487400-214502600	Weak transcription	Colonic Mucosa	Colon
30	chr1:214487400-214509400	Strong transcription	Primary T cells from cord blood	blood
31	chr1:214487600-214497400	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr1:214487600-214506200	Weak transcription	Small Intestine	intestine
33	chr1:214487800-214494000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:214487800-214510600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:214488000-214493200	Strong transcription	Fetal Intestine Large	intestine
36	chr1:214488000-214496400	Strong transcription	Dnd41	blood
37	chr1:214488000-214497800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:214488200-214493400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:214488200-214493600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr1:214488200-214499000	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:214488200-214500400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:214488200-214517600	Weak transcription	Brain Germinal Matrix	brain
43	chr1:214488200-214520800	Weak transcription	Hela-S3	cervix
44	chr1:214488400-214492000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr1:214488400-214493800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:214488400-214494000	Strong transcription	Fetal Muscle Leg	muscle
47	chr1:214488600-214492200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:214488600-214492200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr1:214488800-214497800	Strong transcription	Fetal Stomach	stomach
50	chr1:214488800-214510600	Weak transcription	Fetal Brain Male	brain

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