Variant report

Variant	rs3751131
Chromosome Location	chr12:121880520-121880521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:121880255-121883309	GM12878	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121878170..121879977-chr12:121880057..121882687,2	MCF-7	breast:
2	chr12:121781410..121784026-chr12:121878713..121881204,2	MCF-7	breast:
3	chr12:121789271..121791434-chr12:121880187..121882696,2	K562	blood:
4	chr12:121733765..121736569-chr12:121879944..121882685,2	MCF-7	breast:
5	chr12:121876229..121878073-chr12:121879480..121881227,2	MCF-7	breast:
6	chr12:121865404..121867162-chr12:121879312..121881659,2	K562	blood:
7	chr12:121788278..121791610-chr12:121879889..121884323,6	MCF-7	breast:
8	chr12:121879603..121883744-chr12:121903538..121907174,6	MCF-7	breast:
9	chr12:121880512..121882680-chr12:121974810..121977371,2	MCF-7	breast:
10	chr12:121876702..121878643-chr12:121879241..121881463,2	MCF-7	breast:
11	chr12:121836745..121839603-chr12:121879742..121884021,4	MCF-7	breast:
12	chr12:121879600..121882524-chr12:121903519..121905264,3	K562	blood:
13	chr12:121836844..121839503-chr12:121878978..121881423,3	K562	blood:
14	chr12:121869933..121872721-chr12:121879594..121881774,2	MCF-7	breast:

No data

Variant related genes	Relation type
KDM2B	TF binding region
ENSG00000110931	Chromatin interaction
ENSG00000089094	Chromatin interaction
ENSG00000089053	Chromatin interaction
ENSG00000170633	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10444489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs10444491	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10444492	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1064951	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][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]
rs10744763	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10744764	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10774594	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774595	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10774596	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10774597	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10774598	1.00[CEU][hapmap];0.82[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10849873	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849875	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849877	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849878	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849879	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849880	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849882	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849884	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849885	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849887	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10849888	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs10849889	0.96[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10849891	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065549	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065551	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065563	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065565	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065575	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065576	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065582	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11065583	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065585	0.96[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11838335	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12427382	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12578785	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12581843	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12581861	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3817543	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3817544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3817545	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3817546	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3817547	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3817549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3817551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4081775	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57185007	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57889600	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57971979	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58609847	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58849369	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59103597	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59190874	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61953461	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61953462	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61953497	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61955092	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61955131	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61955132	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61955138	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9300314	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951498	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634168	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121850400-121887400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:121851800-121891400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:121852200-121883200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:121852200-121884800	Strong transcription	Primary T cells from cord blood	blood
5	chr12:121852400-121881800	Strong transcription	Duodenum Mucosa	Duodenum
6	chr12:121852600-121881600	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr12:121853000-121884800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:121853800-121880800	Strong transcription	Ovary	ovary
9	chr12:121853800-121880800	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr12:121853800-121881000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:121853800-121881000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:121854000-121880600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:121854000-121881400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:121854200-121881000	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr12:121861400-121903600	Weak transcription	Right Atrium	heart
16	chr12:121861600-121881000	Strong transcription	Fetal Muscle Trunk	muscle
17	chr12:121864000-121889200	Strong transcription	Fetal Intestine Small	intestine
18	chr12:121864200-121883600	Strong transcription	Spleen	Spleen
19	chr12:121864600-121887200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:121865000-121884000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr12:121867600-121890000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:121868000-121893600	Weak transcription	Psoas Muscle	Psoas
23	chr12:121868200-121881200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr12:121869600-121886400	Weak transcription	Fetal Heart	heart
25	chr12:121872600-121883400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:121873000-121880600	Strong transcription	Fetal Lung	lung
27	chr12:121873000-121880800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:121873000-121881000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:121873000-121883800	Strong transcription	Liver	Liver
30	chr12:121873200-121880600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:121873200-121880800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:121873200-121880800	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:121873200-121880800	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:121873200-121883200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:121873400-121880800	Strong transcription	Placenta	Placenta
36	chr12:121873400-121883200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr12:121873600-121884400	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr12:121874000-121889600	Weak transcription	HMEC	breast
39	chr12:121874400-121882400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
40	chr12:121874600-121881000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:121874600-121882800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:121874800-121880600	Strong transcription	Lung	lung
43	chr12:121875000-121880800	Strong transcription	Fetal Muscle Leg	muscle
44	chr12:121875000-121881000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:121875000-121881600	Strong transcription	Fetal Stomach	stomach
46	chr12:121875000-121882600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:121875000-121883600	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr12:121875000-121883600	Strong transcription	Brain Germinal Matrix	brain
49	chr12:121875000-121884800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:121875000-121886800	Weak transcription	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links