Variant report

Variant	rs16896768
Chromosome Location	chr8:99201718-99201719
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	chr8:99192481..99195467-chr8:99200110..99202473,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10093356	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10093623	1.00[CEU][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10093678	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10093856	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10095790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100633	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108460	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1109159	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11987536	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12550682	0.91[GIH][hapmap];0.91[JPT][hapmap]
rs12677283	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680361	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680980	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13271095	0.91[GIH][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap]
rs1542289	0.95[CEU][hapmap];0.80[CHB][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16896763	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896802	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2331809	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28485842	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2877460	0.90[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2877495	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3779721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734388	0.84[ASN][1000 genomes]
rs4734389	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734390	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734392	0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs4735535	0.84[ASN][1000 genomes]
rs4735538	0.94[YRI][hapmap];0.89[AFR][1000 genomes]
rs4735539	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4735540	0.82[ASN][1000 genomes]
rs4735542	0.81[JPT][hapmap]
rs55908268	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56906975	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57644890	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60414868	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6468620	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6468624	0.81[JPT][hapmap]
rs6982810	0.81[JPT][hapmap]
rs7009145	1.00[CEU][hapmap];0.80[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72680644	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs736191	1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap]
rs896417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831405	chr8:99095239-99260934	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv891216	chr8:99153160-99209248	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99191600-99203000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:99191600-99243800	Weak transcription	Spleen	Spleen
3	chr8:99192200-99205800	Weak transcription	Fetal Intestine Small	intestine
4	chr8:99192200-99210600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:99192200-99214400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:99192800-99210400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:99193400-99206400	Weak transcription	Pancreas	Pancrea
8	chr8:99194800-99216600	Weak transcription	Colonic Mucosa	Colon
9	chr8:99196400-99204800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:99197000-99204800	Weak transcription	Fetal Intestine Large	intestine
11	chr8:99197000-99205000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:99197000-99209200	Weak transcription	HSMMtube	muscle
13	chr8:99197000-99210400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:99197000-99219000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:99197400-99206200	Weak transcription	Aorta	Aorta
16	chr8:99197400-99206200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:99197800-99204800	Weak transcription	Right Atrium	heart
18	chr8:99197800-99215400	Weak transcription	Fetal Stomach	stomach
19	chr8:99198000-99210400	Weak transcription	Osteobl	bone
20	chr8:99198000-99217000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:99198200-99202000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:99198200-99207200	Weak transcription	Esophagus	oesophagus
23	chr8:99198200-99215200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:99198200-99239200	Weak transcription	Lung	lung
25	chr8:99198400-99204800	Weak transcription	Ovary	ovary
26	chr8:99200800-99202000	Enhancers	Right Ventricle	heart
27	chr8:99200800-99202000	Enhancers	NHDF-Ad	bronchial
28	chr8:99201200-99201800	Enhancers	Left Ventricle	heart
29	chr8:99201400-99201800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:99201400-99202200	Flanking Active TSS	Fetal Heart	heart
31	chr8:99201400-99202800	Weak transcription	Adipose Nuclei	Adipose
32	chr8:99201400-99203000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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