Variant report

Variant	rs7013445
Chromosome Location	chr8:99527663-99527664
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10441501	0.83[YRI][hapmap]
rs10955177	0.81[YRI][hapmap]
rs10955179	0.84[YRI][hapmap]
rs1893884	0.83[YRI][hapmap]
rs34094945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4130753	0.83[YRI][hapmap]
rs4348458	0.82[JPT][hapmap];0.96[YRI][hapmap];0.80[EUR][1000 genomes]
rs4388428	0.83[YRI][hapmap]
rs4734406	0.81[YRI][hapmap]
rs6993480	0.96[YRI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7011763	0.83[YRI][hapmap]
rs7815227	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3348859	chr8:99509825-99528164	Enhancers ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv891219	chr8:99526819-99643487	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99486600-99536000	Weak transcription	Placenta	Placenta
2	chr8:99490400-99547600	Weak transcription	Ovary	ovary
3	chr8:99500400-99558800	Weak transcription	Aorta	Aorta
4	chr8:99503200-99530600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:99503200-99536200	Weak transcription	Liver	Liver
6	chr8:99504600-99536200	Weak transcription	Fetal Lung	lung
7	chr8:99507800-99528200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:99515000-99550800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:99516000-99542800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:99516200-99543000	Weak transcription	GM12878-XiMat	blood
11	chr8:99516800-99542800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:99517800-99538200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:99518400-99542800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr8:99518800-99551000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:99519000-99543000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:99519000-99548400	Weak transcription	Fetal Stomach	stomach
17	chr8:99519200-99530800	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:99519400-99530400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:99519600-99536200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:99520200-99535200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:99520600-99536400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:99523200-99529400	Weak transcription	HSMMtube	muscle
23	chr8:99523200-99530600	Weak transcription	HSMM	muscle
24	chr8:99523400-99536800	Weak transcription	NHEK	skin
25	chr8:99524000-99530000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:99525000-99527800	Enhancers	Dnd41	blood
27	chr8:99525600-99528000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:99525800-99530400	Weak transcription	Adipose Nuclei	Adipose
29	chr8:99525800-99576400	Weak transcription	Pancreas	Pancrea
30	chr8:99526000-99543200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:99526200-99549400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:99526400-99538800	Weak transcription	K562	blood
33	chr8:99526600-99536200	Weak transcription	Left Ventricle	heart
34	chr8:99527400-99536200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:99527600-99527800	Enhancers	Lung	lung

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