Variant report

Variant	rs2895912
Chromosome Location	chr12:82768717-82768718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:82750803..82753680-chr12:82768474..82770672,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133773	Chromatin interaction
ENSG00000127720	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10219540	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10431469	0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10732677	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs10735451	0.84[EUR][1000 genomes]
rs10735454	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10735455	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs10746241	0.84[EUR][1000 genomes]
rs10746243	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10746247	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs10746248	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs10746250	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs10746251	0.86[EUR][1000 genomes]
rs10778891	0.84[EUR][1000 genomes]
rs10778894	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10778897	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10778903	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10778904	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10778905	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10778906	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10778908	1.00[CEU][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10862481	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10862484	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs10862485	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs10862486	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs17009470	1.00[EUR][1000 genomes]
rs17009622	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17719033	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17775000	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17775447	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs17775501	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1874058	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes]
rs2068633	0.83[LWK][hapmap];0.91[MKK][hapmap];0.88[YRI][hapmap];0.84[EUR][1000 genomes]
rs2254688	1.00[CEU][hapmap];0.88[YRI][hapmap];0.94[EUR][1000 genomes]
rs2401026	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2401027	1.00[CEU][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2401032	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2401039	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2642015	0.82[ASW][hapmap];1.00[CEU][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes]
rs2642017	0.94[EUR][1000 genomes]
rs2642018	1.00[CEU][hapmap];0.94[YRI][hapmap];0.94[EUR][1000 genomes]
rs2642019	1.00[CEU][hapmap];0.94[YRI][hapmap];0.94[EUR][1000 genomes]
rs2642021	0.88[EUR][1000 genomes]
rs2642023	1.00[CEU][hapmap];0.94[YRI][hapmap];0.88[EUR][1000 genomes]
rs2717449	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs2717459	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2731286	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes]
rs2731288	0.88[EUR][1000 genomes]
rs2731289	1.00[CEU][hapmap];0.84[YRI][hapmap];0.88[EUR][1000 genomes]
rs2731290	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.94[YRI][hapmap];0.88[EUR][1000 genomes]
rs2731291	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.88[EUR][1000 genomes]
rs2731292	1.00[CEU][hapmap];0.94[YRI][hapmap];0.88[EUR][1000 genomes]
rs2731294	0.88[EUR][1000 genomes]
rs2731295	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.88[EUR][1000 genomes]
rs2731297	0.91[EUR][1000 genomes]
rs28626834	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2895910	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2895911	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2895915	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4143187	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4143190	0.84[EUR][1000 genomes]
rs41535250	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs4242864	1.00[CEU][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4242870	0.93[YRI][hapmap];0.84[EUR][1000 genomes]
rs4257045	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4284465	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4296098	0.82[ASW][hapmap];1.00[CEU][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4334093	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4343090	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4356298	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4370996	0.89[ASW][hapmap];1.00[CEU][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4387422	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4399377	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4411333	0.83[YRI][hapmap]
rs4417379	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4460874	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4471506	0.84[EUR][1000 genomes]
rs4483662	0.84[EUR][1000 genomes]
rs4505128	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4516038	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4517594	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4540892	1.00[CEU][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4553425	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4587790	0.82[ASW][hapmap];1.00[CEU][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4628747	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes]
rs4882379	1.00[CEU][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4882386	0.98[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4882389	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4882390	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4882435	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4882438	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4882442	0.88[AFR][1000 genomes]
rs4882541	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4882542	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4882551	0.87[AFR][1000 genomes]
rs55806388	0.88[EUR][1000 genomes]
rs55887136	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs56337649	0.94[EUR][1000 genomes]
rs6539669	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7294771	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7294903	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7297164	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7299307	0.98[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7299616	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7309442	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7313975	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes]
rs7315834	0.83[LWK][hapmap];0.91[MKK][hapmap];0.88[YRI][hapmap];0.84[EUR][1000 genomes]
rs7316500	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7953234	0.88[EUR][1000 genomes]
rs7954119	0.83[YRI][hapmap];0.88[EUR][1000 genomes]
rs7954460	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7969953	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7977443	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs8181688	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8181705	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559539	chr12:82280797-82896218	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1041954	chr12:82314981-83008609	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv541550	chr12:82314981-83008609	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv559541	chr12:82715210-83108395	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv1841396	chr12:82768717-82881082	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:82753400-82786200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr12:82753600-82777800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:82753600-82782400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr12:82753600-82799800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:82753600-82805200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:82753800-82770800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:82753800-82804800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:82754000-82794800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:82754000-82804600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:82754200-82769000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:82754200-82779600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:82754200-82803600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:82754400-82782200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:82754400-82804000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:82754600-82782200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:82754600-82794600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:82755600-82802200	Weak transcription	Pancreas	Pancrea
18	chr12:82755800-82782400	Weak transcription	Gastric	stomach
19	chr12:82758200-82782400	Weak transcription	Ovary	ovary
20	chr12:82758400-82795800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:82758400-82835600	Weak transcription	Psoas Muscle	Psoas
22	chr12:82758600-82777000	Weak transcription	Fetal Heart	heart
23	chr12:82758600-82799600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:82761600-82790600	Weak transcription	Brain Anterior Caudate	brain
25	chr12:82761800-82792000	Weak transcription	Stomach Mucosa	stomach
26	chr12:82764000-82782400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:82764000-82801400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:82764200-82794000	Weak transcription	Placenta	Placenta
29	chr12:82764400-82769600	Weak transcription	Fetal Thymus	thymus
30	chr12:82765200-82779600	Weak transcription	Right Ventricle	heart
31	chr12:82765600-82769600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:82767200-82768800	Strong transcription	Adipose Nuclei	Adipose
33	chr12:82767200-82769200	ZNF genes & repeats	Aorta	Aorta
34	chr12:82767400-82769200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:82767400-82769800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:82767600-82768800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
37	chr12:82767600-82769200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
38	chr12:82767800-82769200	ZNF genes & repeats	Fetal Muscle Leg	muscle
39	chr12:82767800-82769200	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:82768000-82769600	Strong transcription	Primary B cells from cord blood	blood
41	chr12:82768000-82782200	Weak transcription	Left Ventricle	heart
42	chr12:82768000-82791000	Weak transcription	Brain Angular Gyrus	brain
43	chr12:82768200-82769000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:82768200-82769000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:82768200-82769000	Weak transcription	Liver	Liver
46	chr12:82768200-82769000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr12:82768200-82769400	ZNF genes & repeats	Primary T cells from cord blood	blood
48	chr12:82768200-82782200	Weak transcription	Fetal Lung	lung
49	chr12:82768200-82782200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:82768200-82786200	Weak transcription	Fetal Intestine Large	intestine

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