Variant report

Variant	rs7312513
Chromosome Location	chr12:62684109-62684110
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62669432..62672054-chr12:62682011..62684477,2	MCF-7	breast:
2	chr12:62653168..62655922-chr12:62682408..62685146,3	K562	blood:
3	chr12:62674932..62676945-chr12:62683042..62684862,2	K562	blood:
4	chr12:62652793..62655743-chr12:62684104..62685814,2	MCF-7	breast:
5	chr12:62683752..62687309-chr12:62693284..62697639,4	K562	blood:

Variant related genes	Relation type
ENSG00000135655	Chromatin interaction
ENSG00000198673	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1032417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10431566	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10732749	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10784290	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10784291	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10877825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11174432	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1376341	0.81[CEU][hapmap]
rs1512024	1.00[CEU][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1901238	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2122659	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2131436	0.91[ASN][1000 genomes]
rs2131437	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2167286	0.93[CHB][hapmap];0.94[JPT][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4763167	0.80[CEU][hapmap]
rs7135737	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7312416	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7315790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7953445	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7956101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7970898	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7974980	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1049465	chr12:62657011-62785005	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1053403	chr12:62657011-62809413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62655400-62685600	Weak transcription	HSMM	muscle
2	chr12:62656600-62685600	Weak transcription	Aorta	Aorta
3	chr12:62656600-62685600	Weak transcription	Pancreas	Pancrea
4	chr12:62663000-62685600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:62663200-62684800	Weak transcription	NHEK	skin
6	chr12:62663400-62685600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:62664400-62685400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:62665000-62688000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:62667800-62689000	Weak transcription	HSMMtube	muscle
10	chr12:62669800-62688400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:62670000-62688600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:62674200-62685400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:62674400-62685600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:62674600-62684800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr12:62674600-62685400	Weak transcription	Small Intestine	intestine
16	chr12:62674800-62688600	Weak transcription	Brain Angular Gyrus	brain
17	chr12:62676000-62685600	Weak transcription	Left Ventricle	heart
18	chr12:62676400-62685600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:62676600-62688600	Weak transcription	Ovary	ovary
20	chr12:62677000-62688600	Weak transcription	Fetal Kidney	kidney
21	chr12:62677200-62685400	Weak transcription	Osteobl	bone
22	chr12:62679400-62685800	Weak transcription	Psoas Muscle	Psoas
23	chr12:62679400-62696800	Weak transcription	Fetal Brain Male	brain
24	chr12:62680400-62684800	Weak transcription	Fetal Heart	heart
25	chr12:62680400-62686000	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:62680600-62685600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:62681400-62685400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:62681600-62685600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:62681800-62685200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:62682400-62684400	Enhancers	Dnd41	blood
31	chr12:62682400-62685000	ZNF genes & repeats	Primary B cells from cord blood	blood
32	chr12:62682400-62686000	ZNF genes & repeats	GM12878-XiMat	blood
33	chr12:62682800-62688600	Weak transcription	HepG2	liver
34	chr12:62683000-62685000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
35	chr12:62683000-62685400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:62683000-62685400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:62683000-62685800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr12:62683200-62684200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:62683200-62685200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
40	chr12:62683200-62685400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr12:62683200-62685800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr12:62683200-62688600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:62683400-62685400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
44	chr12:62683400-62685600	Weak transcription	Liver	Liver
45	chr12:62683600-62684600	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:62683600-62685600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:62683600-62697600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr12:62683800-62684200	Weak transcription	NHLF	lung
49	chr12:62683800-62685000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
50	chr12:62683800-62685000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood

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