Variant report

Variant	rs3098725
Chromosome Location	chr8:95504224-95504225
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	chr8:95504162..95505667-chr8:95507162..95509158,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164944	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1023766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1372047	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1866845	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2019783	0.82[CHD][hapmap];0.81[JPT][hapmap]
rs2046666	1.00[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap]
rs2099788	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2119460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2246066	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2381830	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2381831	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2445721	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2450558	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2470739	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2470740	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2470742	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2515100	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2515153	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs2515165	1.00[CHB][hapmap]
rs2919654	1.00[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs2919663	0.84[ASN][1000 genomes]
rs2919665	0.84[ASN][1000 genomes]
rs2919666	0.84[ASN][1000 genomes]
rs2921385	1.00[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap]
rs2921387	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2921388	0.81[ASN][1000 genomes]
rs2930959	0.84[ASN][1000 genomes]
rs2930967	1.00[CHB][hapmap];0.87[CHD][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs2930969	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3098703	0.85[ASN][1000 genomes]
rs3098707	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3098708	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3098709	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3098712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3098715	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3098716	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3098718	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3098719	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3099398	1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs3099401	0.86[ASN][1000 genomes]
rs3099403	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3099404	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3099406	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3099407	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3099412	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3099413	0.87[EUR][1000 genomes]
rs3102841	1.00[CHB][hapmap];0.96[CHD][hapmap];0.84[GIH][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3102845	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3102855	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3102859	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3102862	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3102874	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3102875	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3102877	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3133635	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133637	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3133640	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3133645	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3133648	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3133649	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3133651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3133654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3133656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3133657	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3133658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4734279	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs935052	1.00[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap]
rs957446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95488200-95507800	Weak transcription	NHLF	lung
2	chr8:95493000-95549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:95495200-95538400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:95495600-95541000	Weak transcription	Esophagus	oesophagus
5	chr8:95497200-95510600	Weak transcription	Colonic Mucosa	Colon
6	chr8:95497200-95564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:95498200-95510200	Weak transcription	Gastric	stomach
8	chr8:95498400-95554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:95498800-95509400	Weak transcription	Pancreas	Pancrea
10	chr8:95498800-95512200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:95499000-95505200	Strong transcription	NHDF-Ad	bronchial
12	chr8:95499200-95505000	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:95499200-95511800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:95499200-95512200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:95499200-95512400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:95499200-95514400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:95499200-95515200	Strong transcription	Fetal Thymus	thymus
18	chr8:95499200-95519000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:95499200-95519000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:95499400-95505200	Strong transcription	Left Ventricle	heart
21	chr8:95499400-95506400	Strong transcription	Primary hematopoietic stem cells	blood
22	chr8:95499400-95506400	Strong transcription	Stomach Smooth Muscle	stomach
23	chr8:95499400-95508800	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:95499400-95509200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:95499400-95509400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:95499400-95512200	Strong transcription	Adipose Nuclei	Adipose
27	chr8:95499400-95512200	Strong transcription	Duodenum Mucosa	Duodenum
28	chr8:95499400-95512400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:95499400-95513200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:95499400-95514200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:95499400-95514400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:95499400-95519000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr8:95499400-95519000	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr8:95499400-95533400	Strong transcription	Placenta	Placenta
35	chr8:95499400-95552200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:95499600-95504400	Strong transcription	Brain Substantia Nigra	brain
37	chr8:95499600-95505200	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:95499600-95506400	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr8:95499600-95509000	Strong transcription	Osteobl	bone
40	chr8:95499600-95514600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr8:95499600-95515400	Strong transcription	Liver	Liver
42	chr8:95499800-95509400	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr8:95499800-95511000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr8:95499800-95512200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:95499800-95512600	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr8:95500000-95508400	Strong transcription	GM12878-XiMat	blood
47	chr8:95500000-95509000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:95500000-95509600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr8:95500200-95505000	Strong transcription	Brain Anterior Caudate	brain
50	chr8:95500200-95508800	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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