Variant report

Variant	rs12062763
Chromosome Location	chr1:152413266-152413267
allele	A/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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:152160983..152163280-chr1:152412961..152414390,15	MCF-7	breast:
2	chr1:152160785..152161519-chr1:152413069..152413968,2	K562	blood:
3	chr1:152411861..152413555-chr1:152429926..152432618,2	MCF-7	breast:
4	chr1:152370937..152372499-chr1:152412540..152414323,43	MCF-7	breast:
5	chr1:152161080..152162827-chr1:152413067..152413987,7	MCF-7	breast:
6	chr1:152369672..152370659-chr1:152413047..152413901,4	MCF-7	breast:
7	chr1:152412473..152414075-chr1:152416605..152419173,2	K562	blood:
8	chr1:152370764..152372337-chr1:152412999..152414162,14	MCF-7	breast:
9	chr1:152379306..152381264-chr1:152411990..152414045,3	MCF-7	breast:
10	chr1:152370558..152373181-chr1:152412666..152414314,2	MCF-7	breast:
11	chr1:152162395..152164443-chr1:152410728..152413718,2	MCF-7	breast:
12	chr1:152413209..152414030-chr1:152423642..152424387,3	MCF-7	breast:
13	chr1:152162203..152163021-chr1:152413054..152413609,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000237975	Chromatin interaction
ENSG00000183586	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

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]
rs12068970	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12071768	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12076464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079093	1.00[MEX][hapmap]
rs16833974	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3120668	1.00[EUR][1000 genomes]
rs3120669	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs477291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs506407	0.80[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]
rs6587655	1.00[MEX][hapmap]
rs6587670	1.00[EUR][1000 genomes]
rs6667236	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]
rs7523354	1.00[MEX][hapmap]
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:34 , 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	chr1:152410600-152413600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:152413000-152413800	Enhancers	HMEC	breast
7	chr1:152413000-152416400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:152413200-152413400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:152413200-152413400	Enhancers	Liver	Liver
10	chr1:152413200-152413400	Enhancers	Brain Anterior Caudate	brain
11	chr1:152413200-152413400	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr1:152413200-152413400	Enhancers	Esophagus	oesophagus
13	chr1:152413200-152413400	Enhancers	Left Ventricle	heart
14	chr1:152413200-152413400	Enhancers	Right Atrium	heart
15	chr1:152413200-152413400	Active TSS	Stomach Smooth Muscle	stomach
16	chr1:152413200-152413600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:152413200-152413600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:152413200-152413600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr1:152413200-152413600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:152413200-152413600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:152413200-152413600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:152413200-152413600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr1:152413200-152413600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:152413200-152413600	Enhancers	Duodenum Mucosa	Duodenum
25	chr1:152413200-152413600	Enhancers	Lung	lung
26	chr1:152413200-152413600	Enhancers	Ovary	ovary
27	chr1:152413200-152413600	Enhancers	Pancreas	Pancrea
28	chr1:152413200-152413600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr1:152413200-152413800	Enhancers	Primary B cells from peripheral blood	blood
30	chr1:152413200-152413800	Enhancers	Brain Angular Gyrus	brain
31	chr1:152413200-152413800	Enhancers	Brain Cingulate Gyrus	brain
32	chr1:152413200-152413800	Enhancers	Rectal Smooth Muscle	rectum
33	chr1:152413200-152414400	Enhancers	Fetal Stomach	stomach
34	chr1:152413200-152415200	Enhancers	NHEK	skin

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