Variant report

Variant	rs7817803
Chromosome Location	chr8:131319822-131319823
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131318340..131321278-chr8:131336360..131338722,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10089819	0.82[CHB][hapmap];0.83[CHD][hapmap];0.84[MEX][hapmap]
rs10091450	0.88[CHD][hapmap];0.84[MEX][hapmap]
rs10100892	0.85[CHD][hapmap]
rs1123205	0.86[CHD][hapmap]
rs1158569	0.83[ASW][hapmap];0.82[CEU][hapmap];0.84[CHB][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1158570	0.94[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11774633	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11774659	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1340021	0.87[CHD][hapmap]
rs1340022	0.89[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap];0.92[ASN][1000 genomes]
rs1538728	0.87[CHD][hapmap]
rs1978550	0.87[CHD][hapmap]
rs2185366	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2554369	0.84[MEX][hapmap]
rs2670885	0.82[CHB][hapmap]
rs2791342	0.81[LWK][hapmap];0.88[MEX][hapmap];0.90[YRI][hapmap]
rs2791343	0.81[ASN][1000 genomes]
rs2791350	0.90[YRI][hapmap]
rs2894508	0.84[CHD][hapmap]
rs2943086	0.84[MEX][hapmap]
rs3057	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733572	0.86[CHD][hapmap]
rs6470801	0.83[CHD][hapmap];0.84[MEX][hapmap]
rs6470811	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6470816	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs6984963	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6985563	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7002892	0.89[CEU][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap]
rs7008182	0.84[EUR][1000 genomes]
rs7460225	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7839523	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7846376	0.88[MEX][hapmap]
rs9297805	0.87[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131306000-131321200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr8:131306000-131321600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:131307000-131329600	Weak transcription	Aorta	Aorta
4	chr8:131310800-131328200	Weak transcription	Lung	lung
5	chr8:131311600-131321600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:131312600-131320000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:131313200-131320200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:131313200-131321200	Weak transcription	GM12878-XiMat	blood
9	chr8:131313400-131335000	Weak transcription	Pancreas	Pancrea
10	chr8:131315000-131321000	Weak transcription	Spleen	Spleen
11	chr8:131315400-131320000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:131315400-131321600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:131315400-131321600	Weak transcription	Gastric	stomach
14	chr8:131315400-131321600	Weak transcription	Right Atrium	heart
15	chr8:131315400-131323000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:131315400-131323000	Weak transcription	Brain Angular Gyrus	brain
17	chr8:131315400-131323000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:131315400-131323000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:131315400-131324200	Weak transcription	Fetal Lung	lung
20	chr8:131315400-131324400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:131315400-131325000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr8:131315400-131326000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:131315400-131326000	Weak transcription	Placenta	Placenta
24	chr8:131315600-131321200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:131315600-131321600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:131315600-131321800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:131315600-131322800	Weak transcription	NH-A	brain
28	chr8:131315600-131323000	Weak transcription	Brain Anterior Caudate	brain
29	chr8:131315600-131326000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:131315600-131331600	Weak transcription	Thymus	Thymus
31	chr8:131315600-131342000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:131315600-131353400	Weak transcription	Dnd41	blood
33	chr8:131315800-131321400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:131315800-131322800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:131316000-131325600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:131316400-131320000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr8:131316800-131320000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr8:131317000-131321600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr8:131317400-131321000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:131317400-131321200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:131317400-131321400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr8:131317400-131321400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr8:131317400-131322600	Weak transcription	Liver	Liver
44	chr8:131317400-131322800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:131317400-131324800	Weak transcription	Fetal Kidney	kidney
46	chr8:131317400-131326000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr8:131317600-131321600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:131317600-131321600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr8:131317600-131321600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr8:131317600-131321600	Weak transcription	Ovary	ovary

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