Variant report

Variant	rs12816358
Chromosome Location	chr12:46736646-46736647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46735506..46737094-chr12:46885760..46887551,2	MCF-7	breast:
2	chr12:46660537..46663877-chr12:46734524..46736795,3	MCF-7	breast:
3	chr12:46735641..46738339-chr12:46748312..46750267,2	MCF-7	breast:
4	chr12:46735335..46740420-chr12:46762976..46767704,6	MCF-7	breast:
5	chr12:46736349..46738676-chr12:46759246..46761971,2	MCF-7	breast:
6	chr12:46736517..46738567-chr12:46764679..46766585,2	K562	blood:

Variant related genes	Relation type
ENSG00000111371	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000258096	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10467213	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1060735	0.93[CHB][hapmap];1.00[YRI][hapmap]
rs10748448	0.81[AMR][1000 genomes]
rs10785620	0.83[ASN][1000 genomes]
rs1079780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880947	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs10880953	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10880959	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10880960	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10880961	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10880966	0.80[CEU][hapmap];0.84[AMR][1000 genomes]
rs11183441	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1125909	0.85[AMR][1000 genomes]
rs12099669	0.85[AMR][1000 genomes]
rs12298619	0.82[EUR][1000 genomes]
rs12302984	0.81[EUR][1000 genomes]
rs12310125	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs12311507	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12314541	0.81[AMR][1000 genomes]
rs12317787	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12320197	0.81[CEU][hapmap]
rs12580583	0.82[EUR][1000 genomes]
rs12814341	0.80[CEU][hapmap]
rs12816413	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1471223	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1472178	0.81[AMR][1000 genomes]
rs1472179	0.81[AMR][1000 genomes]
rs1492892	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs1492894	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1492895	0.82[AMR][1000 genomes]
rs1873793	0.81[CEU][hapmap]
rs2018424	0.81[EUR][1000 genomes]
rs2087834	0.81[EUR][1000 genomes]
rs2131371	0.83[AMR][1000 genomes]
rs2169030	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2172398	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs2242355	0.88[CEU][hapmap]
rs2279560	0.92[CHB][hapmap];1.00[YRI][hapmap]
rs2307061	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2408497	0.83[AMR][1000 genomes]
rs2408504	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2408505	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2408506	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2408507	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2408508	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2897951	0.82[AMR][1000 genomes]
rs2897968	0.87[CEU][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34119192	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35123676	0.81[EUR][1000 genomes]
rs35497251	0.81[EUR][1000 genomes]
rs3782904	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4238102	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4258438	0.84[AMR][1000 genomes]
rs4427617	0.83[AMR][1000 genomes]
rs4438106	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4547171	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4586238	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768111	0.82[EUR][1000 genomes]
rs4768115	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4768116	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4768118	0.83[AMR][1000 genomes]
rs4768119	0.84[AMR][1000 genomes]
rs4768694	0.81[EUR][1000 genomes]
rs4768695	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4768696	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768698	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4768709	0.84[AMR][1000 genomes]
rs4768710	0.82[AMR][1000 genomes]
rs59919892	0.81[EUR][1000 genomes]
rs6582625	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6582641	0.82[AMR][1000 genomes]
rs7132228	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7134855	0.82[EUR][1000 genomes]
rs7310869	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs7312259	0.83[AMR][1000 genomes]
rs7314069	0.82[EUR][1000 genomes]
rs7315493	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7316127	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs7316773	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs7953659	0.81[EUR][1000 genomes]
rs7958774	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7960147	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7961994	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7965629	0.82[EUR][1000 genomes]
rs7966288	0.82[EUR][1000 genomes]
rs7967669	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs7968173	0.96[CEU][hapmap];0.92[CHB][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7968283	0.96[CEU][hapmap];0.92[CHB][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7968897	0.81[AMR][1000 genomes]
rs7970911	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7974529	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7976280	0.83[AMR][1000 genomes]
rs7976362	0.82[EUR][1000 genomes]
rs7979418	0.83[CEU][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7979514	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7980775	0.92[CEU][hapmap];0.92[CHB][hapmap];0.82[EUR][1000 genomes]
rs898242	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs956910	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9668077	0.80[AMR][1000 genomes]
rs9669051	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9669381	0.83[EUR][1000 genomes]
rs9795971	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9971879	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	esv3423694	chr12:46733685-46745567	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46736200-46737000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:46736200-46737000	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr12:46736200-46737200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:46736200-46737200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:46736200-46737200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:46736200-46737200	Enhancers	Stomach Mucosa	stomach
7	chr12:46736200-46737400	Enhancers	NHEK	skin
8	chr12:46736200-46737600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:46736200-46737600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:46736200-46737800	Enhancers	HMEC	breast
11	chr12:46736400-46736800	Flanking Active TSS	HepG2	liver
12	chr12:46736400-46737000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:46736400-46737000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:46736400-46737000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr12:46736400-46737000	Enhancers	NHDF-Ad	bronchial
16	chr12:46736400-46737200	Enhancers	Osteobl	bone
17	chr12:46736400-46737400	Enhancers	Esophagus	oesophagus
18	chr12:46736400-46737400	Enhancers	A549	lung
19	chr12:46736600-46736800	Enhancers	Colon Smooth Muscle	Colon
20	chr12:46736600-46736800	Enhancers	Right Ventricle	heart
21	chr12:46736600-46737000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:46736600-46737000	Enhancers	Adipose Nuclei	Adipose
23	chr12:46736600-46737000	Enhancers	Right Atrium	heart
24	chr12:46736600-46737000	Enhancers	HUVEC	blood vessel
25	chr12:46736600-46737000	Enhancers	K562	blood
26	chr12:46736600-46737000	Enhancers	NHLF	lung
27	chr12:46736600-46737200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:46736600-46737200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr12:46736600-46737200	Enhancers	Aorta	Aorta
30	chr12:46736600-46737200	Enhancers	Psoas Muscle	Psoas
31	chr12:46736600-46737200	Flanking Active TSS	Hela-S3	cervix
32	chr12:46736600-46737600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:46736600-46737600	Enhancers	Pancreas	Pancrea

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