Variant report

Variant	rs2186680
Chromosome Location	chr8:103068571-103068572
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103065341..103067614-chr8:103067758..103069814,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10098517	0.91[ASN][1000 genomes]
rs10098815	0.91[ASN][1000 genomes]
rs10098918	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10282780	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1111909	0.88[JPT][hapmap]
rs11780799	0.88[JPT][hapmap]
rs12334499	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1573313	0.81[CEU][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16868920	0.91[ASN][1000 genomes]
rs16868941	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17499067	0.88[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1893534	0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2032151	0.88[JPT][hapmap]
rs62518513	0.89[ASN][1000 genomes]
rs62522999	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6468812	0.88[JPT][hapmap]
rs7001158	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7014685	0.88[JPT][hapmap]
rs9886663	0.88[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][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	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv891231	chr8:103001914-103076379	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv891234	chr8:103020391-103113701	Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv891235	chr8:103032394-103162638	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv891236	chr8:103039917-103070301	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv891237	chr8:103039917-103113701	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv891238	chr8:103055520-103116959	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv891239	chr8:103056517-103162638	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103053800-103072600	Weak transcription	Aorta	Aorta
2	chr8:103057400-103068600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:103057600-103068600	Weak transcription	Left Ventricle	heart
4	chr8:103057600-103068800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr8:103064800-103070800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:103065400-103069400	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:103065400-103072600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:103065400-103072800	Weak transcription	Right Ventricle	heart
9	chr8:103065400-103085800	Weak transcription	Primary T cells from cord blood	blood
10	chr8:103065800-103068800	Weak transcription	Ovary	ovary
11	chr8:103065800-103069000	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:103065800-103072800	Weak transcription	Right Atrium	heart
13	chr8:103066000-103069200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:103066000-103075800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:103066000-103076200	Weak transcription	HSMMtube	muscle
16	chr8:103066200-103072400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:103066600-103072600	Weak transcription	Fetal Brain Female	brain
18	chr8:103066800-103069000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:103067200-103070400	Enhancers	Fetal Heart	heart
20	chr8:103067400-103068800	Weak transcription	Psoas Muscle	Psoas
21	chr8:103067400-103072600	Weak transcription	Lung	lung
22	chr8:103067600-103072600	Weak transcription	Fetal Brain Male	brain
23	chr8:103068000-103069800	Enhancers	Stomach Smooth Muscle	stomach
24	chr8:103068200-103069800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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