Variant report

Variant	rs12076216
Chromosome Location	chr1:152155784-152155785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:152023109..152026981-chr1:152153674..152157448,4	MCF-7	breast:
2	chr1:152007310..152009058-chr1:152155234..152157493,3	MCF-7	breast:
3	chr1:152019877..152021951-chr1:152154042..152156834,2	MCF-7	breast:
4	chr1:152114200..152115180-chr1:152154330..152156221,19	MCF-7	breast:
5	chr1:152022027..152023625-chr1:152154015..152156299,2	MCF-7	breast:
6	chr1:152114175..152115930-chr1:152155659..152158204,3	MCF-7	breast:
7	chr1:152024690..152025712-chr1:152154629..152155833,16	MCF-7	breast:
8	chr1:152004874..152008437-chr1:152153479..152155850,3	MCF-7	breast:
9	chr1:152114273..152115181-chr1:152154485..152156032,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163191	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10788823	0.88[YRI][hapmap]
rs11204927	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11204928	1.00[EUR][1000 genomes]
rs12078021	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079160	0.89[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079949	0.89[ASW][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12082805	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093184	0.83[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093512	0.87[AFR][1000 genomes]
rs1390486	1.00[EUR][1000 genomes]
rs16833878	0.83[YRI][hapmap];0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16833880	0.89[ASW][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1908639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1908640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58755711	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72995325	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv872442	chr1:152054120-152187641	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv547854	chr1:152145661-152165878	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152151800-152158600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:152152200-152161200	Weak transcription	Right Atrium	heart
3	chr1:152153800-152159800	Enhancers	HMEC	breast
4	chr1:152154000-152160200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:152154200-152158000	Enhancers	NHDF-Ad	bronchial
6	chr1:152154200-152158200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:152154200-152158200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:152154400-152161400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:152154600-152157000	Enhancers	Osteobl	bone
10	chr1:152154600-152160200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:152154600-152160400	Enhancers	Colon Smooth Muscle	Colon
12	chr1:152154800-152156200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:152154800-152156800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:152155000-152156200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:152155000-152156200	Enhancers	Hela-S3	cervix
16	chr1:152155000-152156400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:152155000-152158200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:152155200-152156000	Enhancers	A549	lung
19	chr1:152155200-152156000	Enhancers	HSMM	muscle
20	chr1:152155200-152156400	Enhancers	Fetal Lung	lung
21	chr1:152155400-152155800	Enhancers	HUVEC	blood vessel
22	chr1:152155400-152155800	Flanking Active TSS	NH-A	brain
23	chr1:152155400-152156000	Enhancers	Adipose Nuclei	Adipose
24	chr1:152155400-152156200	Enhancers	HSMMtube	muscle
25	chr1:152155400-152156400	Enhancers	NHLF	lung
26	chr1:152155600-152155800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:152155600-152156000	Weak transcription	Esophagus	oesophagus
28	chr1:152155600-152160200	Enhancers	NHEK	skin

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