Variant report

Variant	rs10176971
Chromosome Location	chr2:64618975-64618976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64586053..64589004-chr2:64618647..64620148,2	MCF-7	breast:
2	chr2:64611244..64613848-chr2:64618868..64621387,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10172854	0.95[ASN][1000 genomes]
rs10209368	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12470429	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1346236	0.95[ASN][1000 genomes]
rs1365478	0.95[ASN][1000 genomes]
rs1365479	0.95[ASN][1000 genomes]
rs2114433	0.95[ASN][1000 genomes]
rs2162381	0.95[ASN][1000 genomes]
rs2288301	0.95[ASN][1000 genomes]
rs4372888	0.97[ASN][1000 genomes]
rs4508583	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4535030	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4671090	0.95[ASN][1000 genomes]
rs4671567	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4671568	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4671569	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4671570	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7578955	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7596737	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv834244	chr2:64480943-64646259	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64595600-64627800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:64610600-64627200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:64614400-64628200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:64614600-64627600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:64615200-64619000	Weak transcription	Right Atrium	heart
6	chr2:64617200-64626600	Weak transcription	Pancreas	Pancrea
7	chr2:64618200-64619200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr2:64618200-64619600	Enhancers	K562	blood
9	chr2:64618200-64620200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:64618200-64621200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr2:64618200-64622000	Enhancers	Fetal Intestine Small	intestine
12	chr2:64618200-64622200	Enhancers	Liver	Liver
13	chr2:64618200-64622400	Enhancers	Fetal Intestine Large	intestine
14	chr2:64618400-64620800	Enhancers	Stomach Mucosa	stomach
15	chr2:64618400-64621400	Enhancers	Placenta	Placenta
16	chr2:64618400-64622000	Enhancers	HepG2	liver
17	chr2:64618600-64619800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:64618600-64620000	Enhancers	Duodenum Mucosa	Duodenum
19	chr2:64618800-64619000	Enhancers	Aorta	Aorta
20	chr2:64618800-64619400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:64618800-64619600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:64618800-64620000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:64618800-64627800	Weak transcription	Psoas Muscle	Psoas

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