Variant report

Variant	rs7820945
Chromosome Location	chr8:121016526-121016527
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120991897..120993934-chr8:121016274..121018192,2	MCF-7	breast:
2	chr8:121014717..121017057-chr8:121018233..121020594,3	K562	blood:
3	chr8:120959692..120962314-chr8:121016213..121017926,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10755922	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1519811	0.83[AMR][1000 genomes]
rs1519815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1519816	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2001252	0.90[EUR][1000 genomes]
rs2037344	0.80[LWK][hapmap]
rs2326427	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4364674	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4501620	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56035307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56170125	0.98[EUR][1000 genomes]
rs56833210	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58821811	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59029393	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59096952	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59296264	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60108234	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6469881	0.95[EUR][1000 genomes]
rs6469884	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6469885	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6469886	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6469887	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6469892	0.83[AMR][1000 genomes]
rs6982861	0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6986597	0.95[EUR][1000 genomes]
rs6990994	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7000361	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7000819	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7006901	0.87[CEU][hapmap]
rs7010457	0.87[CEU][hapmap]
rs7017151	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7017647	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73705874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73705875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73705877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7816108	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7817365	0.83[AMR][1000 genomes]
rs7818635	0.90[EUR][1000 genomes]
rs7835784	0.83[AMR][1000 genomes]
rs7835799	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes]
rs7836028	0.83[EUR][1000 genomes]
rs7836569	0.89[EUR][1000 genomes]
rs7837374	0.87[GIH][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7845888	0.83[AMR][1000 genomes]

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	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv891419	chr8:120990455-121047798	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120995600-121038400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:121000600-121019600	Weak transcription	Left Ventricle	heart
3	chr8:121001800-121021200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:121004000-121017600	Weak transcription	Right Atrium	heart
5	chr8:121004000-121048000	Weak transcription	Stomach Mucosa	stomach
6	chr8:121004600-121041400	Weak transcription	Brain Angular Gyrus	brain
7	chr8:121004800-121017400	Weak transcription	Fetal Kidney	kidney
8	chr8:121005200-121045800	Weak transcription	Psoas Muscle	Psoas
9	chr8:121011800-121021000	Weak transcription	Thymus	Thymus
10	chr8:121012200-121022200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:121013200-121029600	Weak transcription	Right Ventricle	heart
12	chr8:121013400-121019800	Strong transcription	Fetal Stomach	stomach
13	chr8:121013400-121020000	Strong transcription	Fetal Muscle Leg	muscle
14	chr8:121013800-121018200	Strong transcription	Stomach Smooth Muscle	stomach
15	chr8:121013800-121019000	Weak transcription	Esophagus	oesophagus
16	chr8:121013800-121020000	Strong transcription	Fetal Intestine Large	intestine
17	chr8:121013800-121024200	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr8:121014400-121016600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:121014400-121019200	Weak transcription	Primary T cells from cord blood	blood
20	chr8:121014800-121016800	Strong transcription	Gastric	stomach
21	chr8:121015000-121020200	Strong transcription	Liver	Liver
22	chr8:121015200-121017000	Strong transcription	Brain Anterior Caudate	brain
23	chr8:121015200-121018200	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:121015200-121020000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr8:121015200-121022400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:121015200-121023400	Weak transcription	Aorta	Aorta
27	chr8:121015400-121017800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr8:121015400-121018200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr8:121015400-121031600	Weak transcription	Fetal Lung	lung
30	chr8:121015600-121017000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:121015600-121018200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr8:121015600-121029200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr8:121015800-121017600	Weak transcription	Lung	lung
34	chr8:121015800-121017800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr8:121015800-121019800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:121015800-121021000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:121016000-121017600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:121016000-121017600	Weak transcription	Fetal Intestine Small	intestine
39	chr8:121016000-121017600	Weak transcription	Spleen	Spleen
40	chr8:121016000-121021200	Weak transcription	Colon Smooth Muscle	Colon
41	chr8:121016000-121023200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr8:121016000-121025600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:121016000-121031800	Weak transcription	Pancreas	Pancrea
44	chr8:121016200-121016600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:121016200-121017200	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr8:121016200-121017600	Weak transcription	Ovary	ovary
47	chr8:121016200-121017800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr8:121016200-121018200	Enhancers	Adipose Nuclei	Adipose
49	chr8:121016200-121019000	Weak transcription	Brain Substantia Nigra	brain
50	chr8:121016200-121021000	Weak transcription	Primary monocytes fromperipheralblood	blood

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