Variant report

Variant	rs28370650
Chromosome Location	chr12:40399948-40399949
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:40324481..40326427-chr12:40398894..40400439,2	MCF-7	breast:
2	chr12:40399921..40402831-chr12:40405268..40407402,2	MCF-7	breast:
3	chr12:40324732..40326472-chr12:40398965..40400889,3	MCF-7	breast:
4	chr12:40324480..40325465-chr12:40399923..40400479,2	MCF-7	breast:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10506144	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10506147	0.80[EUR][1000 genomes]
rs11174697	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11175186	0.86[EUR][1000 genomes]
rs11175593	0.80[EUR][1000 genomes]
rs11564107	0.80[EUR][1000 genomes]
rs11564199	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11564212	0.80[EUR][1000 genomes]
rs11564216	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12422544	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12424040	0.86[EUR][1000 genomes]
rs12426378	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1388585	1.00[CEU][hapmap]
rs17442095	1.00[JPT][hapmap]
rs17442346	1.00[JPT][hapmap]
rs17442353	1.00[JPT][hapmap]
rs17442490	1.00[JPT][hapmap]
rs17442882	1.00[JPT][hapmap]
rs17442924	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17443078	0.93[EUR][1000 genomes]
rs17443178	0.86[EUR][1000 genomes]
rs17443185	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17443206	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17458257	1.00[JPT][hapmap]
rs17458549	0.86[EUR][1000 genomes]
rs17458745	1.00[JPT][hapmap]
rs17458773	1.00[JPT][hapmap]
rs17458808	0.86[EUR][1000 genomes]
rs17458974	1.00[JPT][hapmap]
rs17460894	1.00[JPT][hapmap]
rs17460992	1.00[JPT][hapmap]
rs17461575	0.80[EUR][1000 genomes]
rs17465610	0.80[EUR][1000 genomes]
rs17483502	1.00[JPT][hapmap]
rs17484003	0.86[EUR][1000 genomes]
rs17489459	1.00[JPT][hapmap]
rs17489480	1.00[JPT][hapmap]
rs17489666	1.00[JPT][hapmap]
rs17490013	1.00[JPT][hapmap]
rs17518014	1.00[JPT][hapmap]
rs17518050	1.00[JPT][hapmap]
rs17518183	1.00[JPT][hapmap]
rs17518427	1.00[JPT][hapmap]
rs17518441	1.00[JPT][hapmap]
rs17518476	1.00[JPT][hapmap]
rs17518672	1.00[JPT][hapmap]
rs17518735	1.00[JPT][hapmap]
rs2638223	0.93[EUR][1000 genomes]
rs2708460	0.93[EUR][1000 genomes]
rs28365169	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs28365173	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs28365202	1.00[JPT][hapmap]
rs28365689	0.86[EUR][1000 genomes]
rs28370603	1.00[JPT][hapmap]
rs28370641	1.00[JPT][hapmap]
rs28370649	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28370657	1.00[JPT][hapmap]
rs28370664	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs28370682	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs28370698	1.00[JPT][hapmap]
rs28370706	1.00[JPT][hapmap]
rs28370720	1.00[JPT][hapmap]
rs28370728	1.00[JPT][hapmap]
rs28370730	1.00[JPT][hapmap]
rs28370743	1.00[JPT][hapmap]
rs28370759	1.00[JPT][hapmap]
rs28370766	1.00[JPT][hapmap]
rs28370770	1.00[JPT][hapmap]
rs28370777	1.00[JPT][hapmap]
rs28370778	1.00[JPT][hapmap]
rs28370782	1.00[JPT][hapmap]
rs28370784	1.00[JPT][hapmap]
rs28370786	1.00[JPT][hapmap]
rs28370792	1.00[JPT][hapmap]
rs28370801	1.00[JPT][hapmap]
rs28370811	1.00[JPT][hapmap]
rs28370825	1.00[JPT][hapmap]
rs28370830	0.93[EUR][1000 genomes]
rs4767965	0.80[EUR][1000 genomes]
rs4768213	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs729215	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1052202	chr12:40322607-40406760	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv899027	chr12:40388510-40428561	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40384400-40405200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:40384400-40405400	Weak transcription	Pancreas	Pancrea
3	chr12:40393400-40405400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:40394000-40405400	Weak transcription	Left Ventricle	heart
5	chr12:40394000-40410800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:40394200-40403800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:40394400-40405000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:40394400-40405200	Weak transcription	Hela-S3	cervix
9	chr12:40394400-40448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:40395200-40405400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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