Variant report

Variant	rs12068970
Chromosome Location	chr1:152414137-152414138
allele	C/G
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	chr1:152160983..152163280-chr1:152412961..152414390,15	MCF-7	breast:
2	chr1:152413939..152415718-chr1:152422401..152425266,2	K562	blood:
3	chr1:152370937..152372499-chr1:152412540..152414323,43	MCF-7	breast:
4	chr1:152370764..152372337-chr1:152412999..152414162,14	MCF-7	breast:
5	chr1:152413761..152416710-chr1:152419995..152423681,3	MCF-7	breast:
6	chr1:152370558..152373181-chr1:152412666..152414314,2	MCF-7	breast:
7	chr1:152368385..152370359-chr1:152413395..152416053,2	MCF-7	breast:
8	chr1:152160487..152160988-chr1:152413455..152414286,2	MCF-7	breast:
9	chr1:152413327..152415883-chr1:152427595..152432391,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000183586	Chromatin interaction
ENSG00000237975	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10157860	1.00[EUR][1000 genomes]
rs11805976	1.00[EUR][1000 genomes]
rs11807452	1.00[EUR][1000 genomes]
rs11807465	1.00[EUR][1000 genomes]
rs11810565	1.00[EUR][1000 genomes]
rs12062763	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12071768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12076464	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16833974	1.00[EUR][1000 genomes]
rs3120668	1.00[EUR][1000 genomes]
rs3120669	1.00[EUR][1000 genomes]
rs4636462	0.80[AFR][1000 genomes]
rs477291	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs506407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58782040	1.00[EUR][1000 genomes]
rs60958057	1.00[EUR][1000 genomes]
rs61250742	1.00[EUR][1000 genomes]
rs61676926	1.00[EUR][1000 genomes]
rs61749580	1.00[EUR][1000 genomes]
rs6587670	1.00[EUR][1000 genomes]
rs6667236	0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6669029	1.00[EUR][1000 genomes]
rs6673073	1.00[EUR][1000 genomes]
rs6681629	1.00[EUR][1000 genomes]
rs6695830	1.00[EUR][1000 genomes]
rs72997398	1.00[EUR][1000 genomes]
rs72999303	1.00[EUR][1000 genomes]
rs73001316	1.00[EUR][1000 genomes]
rs73001318	1.00[EUR][1000 genomes]
rs73001319	1.00[EUR][1000 genomes]
rs73001326	1.00[EUR][1000 genomes]
rs73001329	1.00[EUR][1000 genomes]
rs73001338	1.00[EUR][1000 genomes]
rs73007787	1.00[EUR][1000 genomes]
rs73007794	1.00[EUR][1000 genomes]
rs73007801	1.00[EUR][1000 genomes]
rs7514641	1.00[EUR][1000 genomes]
rs7549175	1.00[EUR][1000 genomes]
rs7554863	1.00[EUR][1000 genomes]
rs9725444	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1005472	chr1:152247763-152443448	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv535161	chr1:152247763-152443448	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv916016	chr1:152337775-152590520	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv872443	chr1:152400055-152459747	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv872444	chr1:152400361-152440753	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv824664	chr1:152409024-152434443	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv463850	chr1:152411090-152434009	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv547858	chr1:152411090-152434009	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv872445	chr1:152411813-152440753	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152409400-152414800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:152409600-152414600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:152409800-152416600	Weak transcription	HSMM	muscle
4	chr1:152410200-152415400	Weak transcription	HSMMtube	muscle
5	chr1:152413000-152416400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:152413200-152414400	Enhancers	Fetal Stomach	stomach
7	chr1:152413200-152415200	Enhancers	NHEK	skin
8	chr1:152413600-152414800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:152413600-152415200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:152413600-152415200	Weak transcription	Left Ventricle	heart
11	chr1:152413600-152415200	Weak transcription	Lung	lung
12	chr1:152413600-152415200	Weak transcription	Pancreas	Pancrea
13	chr1:152413600-152416000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:152413600-152416200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:152413600-152416200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr1:152413800-152414800	Weak transcription	HMEC	breast
17	chr1:152413800-152415800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:152413800-152416400	Enhancers	Colon Smooth Muscle	Colon
19	chr1:152413800-152417000	Enhancers	Esophagus	oesophagus
20	chr1:152413800-152417000	Enhancers	Stomach Mucosa	stomach
21	chr1:152414000-152414200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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