Variant report

Variant	rs1417007
Chromosome Location	chr8:131352586-131352587
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131351394..131353103-chr8:131358921..131360696,2	MCF-7	breast:
2	chr8:131340635..131342968-chr8:131350699..131352695,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10091130	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10109236	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10505548	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10505549	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10956513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs10956515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10956517	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10956525	0.82[CEU][hapmap]
rs11779014	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11781752	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs11786705	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12541083	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12547397	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12675390	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12676836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes]
rs12679283	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12681954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12681955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1469286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes]
rs1549455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16893271	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16904212	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16904219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16904223	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16904231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16904239	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16904241	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16904242	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16904249	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1974313	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2027377	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4733573	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4733782	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4733783	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4733788	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57198371	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62525888	0.84[EUR][1000 genomes]
rs62525889	0.84[EUR][1000 genomes]
rs62525921	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62525922	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62525927	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62525928	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6415511	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6415512	1.00[YRI][hapmap]
rs6415513	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6415514	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6415517	0.94[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6470813	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470814	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6991714	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6996469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6999216	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7006336	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs72724420	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72724433	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7462286	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs754021	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9297806	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[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	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	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
4	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131315600-131353400	Weak transcription	Dnd41	blood
2	chr8:131330200-131353400	Weak transcription	Aorta	Aorta
3	chr8:131336800-131353400	Weak transcription	Hela-S3	cervix
4	chr8:131337200-131358200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:131338400-131362400	Weak transcription	Fetal Intestine Large	intestine
6	chr8:131339600-131354200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:131339800-131357800	Weak transcription	Esophagus	oesophagus
8	chr8:131340400-131363200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:131342600-131357600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:131342800-131355000	Weak transcription	Pancreas	Pancrea
11	chr8:131343800-131359200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:131344800-131359200	Weak transcription	Fetal Lung	lung
13	chr8:131346400-131353400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:131346400-131368800	Weak transcription	Fetal Intestine Small	intestine
15	chr8:131347400-131353800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:131347600-131357800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:131347600-131368000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:131347800-131353000	Weak transcription	Placenta	Placenta
19	chr8:131347800-131357800	Weak transcription	Small Intestine	intestine
20	chr8:131348000-131352600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:131348000-131353200	Weak transcription	Fetal Stomach	stomach
22	chr8:131348000-131354400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:131348000-131354800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:131348000-131357600	Weak transcription	Fetal Brain Male	brain
25	chr8:131348000-131357800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr8:131348200-131354400	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:131348600-131353200	Weak transcription	K562	blood
28	chr8:131348600-131354200	Weak transcription	Brain Substantia Nigra	brain
29	chr8:131348600-131357000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:131348600-131358200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr8:131348600-131358800	Weak transcription	Gastric	stomach
32	chr8:131348800-131354400	Weak transcription	Brain Angular Gyrus	brain
33	chr8:131348800-131357600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr8:131349000-131353600	Weak transcription	Liver	Liver
35	chr8:131349000-131356400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr8:131349000-131356800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr8:131349000-131359400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:131349200-131352600	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr8:131349200-131354600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr8:131349400-131352600	Weak transcription	GM12878-XiMat	blood
41	chr8:131349400-131353200	Weak transcription	Psoas Muscle	Psoas
42	chr8:131349600-131353400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:131349600-131354600	Strong transcription	NHEK	skin
44	chr8:131350000-131353600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:131350000-131355600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:131350000-131355800	Strong transcription	A549	lung
47	chr8:131350200-131353800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:131350200-131354000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:131350200-131354600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr8:131350400-131353200	Enhancers	Primary T helper cells fromperipheralblood	blood

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