Variant report

Variant	rs7295556
Chromosome Location	chr12:49876065-49876066
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	chr12:49875150..49877752-chr12:49892252..49894698,2	MCF-7	breast:
2	chr12:49872294..49876193-chr12:49879137..49882751,3	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10160947	0.84[EUR][1000 genomes]
rs10161131	0.84[EUR][1000 genomes]
rs10783314	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10875955	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10875958	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11168981	0.83[LWK][hapmap]
rs11169005	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11169008	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11169009	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11169014	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11169015	0.84[EUR][1000 genomes]
rs11169016	0.93[CEU][hapmap];0.87[GIH][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs11169017	0.83[EUR][1000 genomes]
rs11169027	0.84[EUR][1000 genomes]
rs11169043	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169045	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169048	0.88[ASW][hapmap];0.93[CEU][hapmap];1.00[GIH][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11169058	0.88[ASW][hapmap];1.00[GIH][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs11169059	0.88[ASW][hapmap];1.00[GIH][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];0.85[YRI][hapmap]
rs11169063	0.94[ASW][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.94[MEX][hapmap];0.82[MKK][hapmap];0.90[TSI][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11169073	0.86[CHD][hapmap]
rs11169080	0.86[CHD][hapmap];0.81[ASN][1000 genomes]
rs11169081	0.86[CHD][hapmap]
rs11169082	0.86[CHD][hapmap]
rs11169097	0.86[CHD][hapmap]
rs11611743	0.84[EUR][1000 genomes]
rs11615710	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11833411	0.86[CHD][hapmap]
rs12296440	0.83[ASW][hapmap];1.00[GIH][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs12299282	0.84[EUR][1000 genomes]
rs12299505	0.86[CHD][hapmap]
rs12301632	0.93[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.84[EUR][1000 genomes]
rs12306118	0.93[CEU][hapmap];0.87[GIH][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs12306212	0.84[EUR][1000 genomes]
rs12306645	0.84[EUR][1000 genomes]
rs12315996	0.93[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs12320284	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs12321819	0.86[CHD][hapmap]
rs17123808	0.86[CHD][hapmap]
rs2272478	0.93[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.84[EUR][1000 genomes]
rs2303305	0.93[CHD][hapmap]
rs35275181	0.85[CHD][hapmap]
rs3815832	0.86[CHD][hapmap]
rs3887727	0.86[CHD][hapmap];0.81[ASN][1000 genomes]
rs4898506	0.85[YRI][hapmap]
rs4993294	0.86[CHD][hapmap];0.81[ASN][1000 genomes]
rs57601151	0.84[EUR][1000 genomes]
rs58125498	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61375453	0.81[ASN][1000 genomes]
rs6580707	0.93[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs6580709	0.93[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.82[EUR][1000 genomes]
rs6580711	0.81[EUR][1000 genomes]
rs6580715	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7132684	0.83[EUR][1000 genomes]
rs7132792	0.89[MEX][hapmap]
rs7133398	0.88[ASW][hapmap];0.93[CEU][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7139061	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs7294648	0.93[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.84[EUR][1000 genomes]
rs73297209	0.84[EUR][1000 genomes]
rs74089517	0.81[ASN][1000 genomes]
rs74089520	0.81[ASN][1000 genomes]
rs7488923	0.95[EUR][1000 genomes]
rs7952734	0.86[CHD][hapmap]
rs7952938	0.84[ASN][1000 genomes]
rs7953911	0.86[CHD][hapmap]
rs7954994	0.86[CHD][hapmap]
rs7955541	0.93[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs7956181	0.86[CHD][hapmap]
rs7962863	0.86[CHD][hapmap]
rs7962951	0.93[CEU][hapmap];0.87[GIH][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs7963954	0.84[GIH][hapmap];0.83[MEX][hapmap]
rs7965658	0.86[CHD][hapmap];0.87[GIH][hapmap];0.89[MEX][hapmap]
rs7969010	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs7969099	0.93[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.84[EUR][1000 genomes]
rs7970059	0.93[EUR][1000 genomes]
rs7970241	0.86[CHD][hapmap]
rs7973389	0.86[CHD][hapmap]
rs7974420	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];0.83[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[EUR][1000 genomes]
rs7975599	0.86[CHD][hapmap]
rs7975712	0.94[ASW][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977389	0.86[CHD][hapmap]
rs7979285	0.81[ASN][1000 genomes]
rs7980731	0.94[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.92[EUR][1000 genomes]
rs8626	0.86[CHD][hapmap]
rs876889	0.86[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv832405	chr12:49720279-49910862	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv899069	chr12:49760499-49924637	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv899070	chr12:49811311-49941500	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv518746	chr12:49870964-49924637	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49823000-49915800	Weak transcription	Primary B cells from cord blood	blood
2	chr12:49840200-49900600	Weak transcription	Pancreas	Pancrea
3	chr12:49846000-49879800	Weak transcription	Fetal Lung	lung
4	chr12:49846400-49878400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:49850400-49878800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:49850400-49911000	Weak transcription	K562	blood
7	chr12:49850600-49876200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:49853200-49913400	Weak transcription	Thymus	Thymus
9	chr12:49854400-49878400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:49856400-49883400	Weak transcription	Brain Anterior Caudate	brain
11	chr12:49856600-49890200	Weak transcription	Primary T cells from cord blood	blood
12	chr12:49856600-49890200	Weak transcription	Ovary	ovary
13	chr12:49856800-49876200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:49856800-49883600	Weak transcription	Dnd41	blood
15	chr12:49856800-49898400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:49859400-49883400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:49859400-49888600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:49869400-49876200	Weak transcription	Brain Germinal Matrix	brain
19	chr12:49869600-49890000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:49869600-49918400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:49870000-49877600	Weak transcription	GM12878-XiMat	blood
22	chr12:49870200-49884600	Weak transcription	Spleen	Spleen
23	chr12:49870400-49877600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:49870600-49878200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:49870600-49878400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:49870600-49878800	Weak transcription	Fetal Stomach	stomach
27	chr12:49871400-49878800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:49872200-49895000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:49873000-49881000	Weak transcription	Lung	lung
30	chr12:49873000-49890400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:49873000-49918800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:49873200-49918600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:49873400-49876200	Weak transcription	Right Ventricle	heart
34	chr12:49873400-49879000	Weak transcription	Fetal Muscle Leg	muscle
35	chr12:49873600-49878600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr12:49873800-49904600	Weak transcription	Fetal Heart	heart
37	chr12:49874000-49889800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr12:49874000-49904400	Weak transcription	Fetal Brain Male	brain
39	chr12:49874200-49890600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:49874800-49914200	Weak transcription	Fetal Kidney	kidney
41	chr12:49875200-49878400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr12:49875400-49876800	Enhancers	HUVEC	blood vessel
43	chr12:49875400-49878000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:49875800-49876400	Enhancers	Adipose Nuclei	Adipose
45	chr12:49875800-49876400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr12:49875800-49876400	Flanking Active TSS	A549	lung
47	chr12:49875800-49876600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr12:49875800-49876600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:49875800-49876800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:49875800-49876800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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