Variant report

Variant	rs12679283
Chromosome Location	chr8:131320963-131320964
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131320555..131323239-chr8:131323603..131327093,4	MCF-7	breast:
2	chr8:131320315..131322407-chr8:131325381..131327226,2	K562	blood:
3	chr8:131318340..131321278-chr8:131336360..131338722,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10091130	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10109236	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10505548	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10505549	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10956513	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs10956515	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10956517	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10956525	0.81[CEU][hapmap]
rs11779014	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11781752	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11786705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12541083	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12547397	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12675390	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12676836	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes]
rs12681954	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12681955	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1417007	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]
rs1469286	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1549455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16893271	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16904212	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs16904219	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs16904223	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16904231	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16904239	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16904241	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16904242	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16904249	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1974313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2027377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2305511	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3812476	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs4733573	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4733782	0.92[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4733783	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4733788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57198371	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62524635	0.83[AFR][1000 genomes]
rs62525884	0.80[AMR][1000 genomes]
rs62525885	0.87[AFR][1000 genomes]
rs62525888	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62525889	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62525921	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62525922	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62525927	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62525928	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6415511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6415513	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6415514	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6415517	0.94[CEU][hapmap];0.95[CHB][hapmap];0.80[EUR][1000 genomes]
rs6470813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470814	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6991714	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6996469	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6999216	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7006336	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs716077	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs72722371	0.83[AFR][1000 genomes]
rs72724420	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72724433	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7462286	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs754021	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9297806	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][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	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:105 , 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	chr8:131313200-131321200	Weak transcription	GM12878-XiMat	blood
7	chr8:131313400-131335000	Weak transcription	Pancreas	Pancrea
8	chr8:131315000-131321000	Weak transcription	Spleen	Spleen
9	chr8:131315400-131321600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:131315400-131321600	Weak transcription	Gastric	stomach
11	chr8:131315400-131321600	Weak transcription	Right Atrium	heart
12	chr8:131315400-131323000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:131315400-131323000	Weak transcription	Brain Angular Gyrus	brain
14	chr8:131315400-131323000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:131315400-131323000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:131315400-131324200	Weak transcription	Fetal Lung	lung
17	chr8:131315400-131324400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:131315400-131325000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:131315400-131326000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:131315400-131326000	Weak transcription	Placenta	Placenta
21	chr8:131315600-131321200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:131315600-131321600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:131315600-131321800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:131315600-131322800	Weak transcription	NH-A	brain
25	chr8:131315600-131323000	Weak transcription	Brain Anterior Caudate	brain
26	chr8:131315600-131326000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:131315600-131331600	Weak transcription	Thymus	Thymus
28	chr8:131315600-131342000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr8:131315600-131353400	Weak transcription	Dnd41	blood
30	chr8:131315800-131321400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:131315800-131322800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:131316000-131325600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:131317000-131321600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr8:131317400-131321000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:131317400-131321200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:131317400-131321400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr8:131317400-131321400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr8:131317400-131322600	Weak transcription	Liver	Liver
39	chr8:131317400-131322800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:131317400-131324800	Weak transcription	Fetal Kidney	kidney
41	chr8:131317400-131326000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr8:131317600-131321600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:131317600-131321600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr8:131317600-131321600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:131317600-131321600	Weak transcription	Ovary	ovary
46	chr8:131318000-131323600	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr8:131318400-131321800	Enhancers	Primary B cells from cord blood	blood
48	chr8:131318400-131321800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr8:131318400-131325200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr8:131318600-131321200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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