Variant report

Variant	rs7979285
Chromosome Location	chr12:49986544-49986545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49961053..49963139-chr12:49984640..49987053,2	K562	blood:
2	chr12:49960592..49962182-chr12:49985037..49986615,2	MCF-7	breast:
3	chr12:49984359..49986725-chr12:49988314..49992091,3	K562	blood:
4	chr12:49956036..49957788-chr12:49985929..49987842,2	MCF-7	breast:
5	chr12:49952670..49955013-chr12:49985316..49988097,2	K562	blood:

Variant related genes	Relation type
ENSG00000110844	Chromatin interaction
ENSG00000187778	Chromatin interaction
ENSG00000257243	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10875968	0.91[CEU][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11169043	0.81[ASN][1000 genomes]
rs11169045	0.81[ASN][1000 genomes]
rs11169063	0.86[JPT][hapmap];0.97[ASN][1000 genomes]
rs11169065	0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs11169069	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11169070	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11169073	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11169076	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11169080	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169081	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11169082	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11169092	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11169097	0.84[ASN][1000 genomes]
rs11169101	0.83[CEU][hapmap];0.88[JPT][hapmap];0.93[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11169140	0.91[CEU][hapmap];0.93[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1150057	0.85[CEU][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs11615488	0.82[ASN][1000 genomes]
rs11615710	0.81[ASN][1000 genomes]
rs11833411	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12299505	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12299513	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12311527	0.84[ASN][1000 genomes]
rs12311839	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12314878	0.89[ASN][1000 genomes]
rs12315996	0.81[YRI][hapmap]
rs12320556	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12321819	0.89[ASN][1000 genomes]
rs13066	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13906	0.89[ASN][1000 genomes]
rs17123808	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17123981	0.91[CEU][hapmap];0.85[YRI][hapmap]
rs1902329	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1902330	0.84[ASN][1000 genomes]
rs2005195	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2241418	0.89[ASN][1000 genomes]
rs2272478	0.81[YRI][hapmap]
rs2278068	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2278069	0.89[ASN][1000 genomes]
rs2278070	0.87[ASN][1000 genomes]
rs2303305	0.87[ASN][1000 genomes]
rs2878532	1.00[CEU][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3815832	0.89[ASN][1000 genomes]
rs3887727	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887728	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4045193	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4073998	1.00[CEU][hapmap];0.84[JPT][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs52824916	0.87[ASN][1000 genomes]
rs55853522	0.89[ASN][1000 genomes]
rs57916875	0.87[ASN][1000 genomes]
rs58125498	0.81[ASN][1000 genomes]
rs58278271	0.81[ASN][1000 genomes]
rs59233136	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59940006	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61512987	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61616163	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7131915	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7132792	0.84[ASN][1000 genomes]
rs7294648	0.81[YRI][hapmap]
rs7295556	0.81[ASN][1000 genomes]
rs7296281	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7299609	0.91[CEU][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes]
rs7301209	0.89[ASN][1000 genomes]
rs7306877	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7309607	0.82[EUR][1000 genomes]
rs7312658	0.82[EUR][1000 genomes]
rs73305008	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73305012	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7952938	0.97[ASN][1000 genomes]
rs7953911	0.89[ASN][1000 genomes]
rs7955586	0.88[CEU][hapmap];0.93[YRI][hapmap];0.82[AMR][1000 genomes]
rs7962863	0.91[CEU][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7963954	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs7965658	0.85[CEU][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs7970241	0.89[ASN][1000 genomes]
rs7973389	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7975599	0.89[ASN][1000 genomes]
rs7975712	0.81[ASN][1000 genomes]
rs7977389	0.89[ASN][1000 genomes]
rs8626	0.91[CEU][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs876889	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs897056	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs933738	0.84[ASN][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	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
2	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
4	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49963000-50003200	Weak transcription	Aorta	Aorta
2	chr12:49963200-49986800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:49967800-49987400	Weak transcription	Hela-S3	cervix
4	chr12:49974800-49986600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:49974800-49986600	Weak transcription	NH-A	brain
6	chr12:49975000-49987000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:49976800-49994000	Weak transcription	Liver	Liver
8	chr12:49977600-49996200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:49978000-49988000	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:49978800-49994600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:49979600-49986600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:49979600-50002600	Weak transcription	HepG2	liver
13	chr12:49979800-49992000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:49979800-49995600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:49979800-49998800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:49980000-49988200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:49980400-49987000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr12:49980400-50000200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:49981000-49994000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:49982200-49991800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:49982200-49993600	Weak transcription	Brain Germinal Matrix	brain
22	chr12:49982200-49993800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:49982600-49993200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:49982600-50015400	Weak transcription	Pancreas	Pancrea
25	chr12:49982800-49990200	Weak transcription	Fetal Heart	heart
26	chr12:49982800-49994000	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:49982800-49996000	Weak transcription	Brain Angular Gyrus	brain
28	chr12:49983000-49991800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:49983000-49993600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:49983000-49996000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:49983200-49991600	Weak transcription	A549	lung
32	chr12:49983200-49992400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:49983200-49993600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:49983200-49993600	Weak transcription	NHLF	lung
35	chr12:49983200-49994000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:49983200-49994000	Weak transcription	Adipose Nuclei	Adipose
37	chr12:49983200-49994400	Weak transcription	Right Ventricle	heart
38	chr12:49983200-49995000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:49983200-49999400	Weak transcription	HSMMtube	muscle
40	chr12:49983200-50002800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:49983400-49989200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:49983400-49989600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:49983400-49992400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:49983400-49994800	Weak transcription	HSMM	muscle
45	chr12:49983400-50002800	Weak transcription	NHEK	skin
46	chr12:49984200-49987200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:49985000-49986800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:49985000-49994800	Weak transcription	Ovary	ovary
49	chr12:49985200-49992000	Weak transcription	Fetal Muscle Leg	muscle
50	chr12:49985200-49992000	Weak transcription	Fetal Stomach	stomach

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