Variant report

Variant	rs4733573
Chromosome Location	chr8:131308881-131308882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131302789..131304679-chr8:131308821..131310748,2	MCF-7	breast:
2	chr8:131308649..131310819-chr8:131367686..131370906,3	MCF-7	breast:
3	chr8:131296919..131299075-chr8:131308645..131310618,2	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10091130	0.94[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes]
rs10109236	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10505548	0.89[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10505549	1.00[ASW][hapmap];0.94[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10956513	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10956515	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10956517	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10956525	0.82[ASW][hapmap];0.82[CEU][hapmap];0.93[GIH][hapmap]
rs11779014	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11781752	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap]
rs11786705	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12541083	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12545910	0.82[EUR][1000 genomes]
rs12547397	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12547540	0.83[EUR][1000 genomes]
rs12675390	0.91[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap]
rs12676836	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs12679283	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]
rs12681954	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12681955	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1417007	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]
rs1469286	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1549455	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16893271	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16904204	0.82[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap]
rs16904208	0.82[EUR][1000 genomes]
rs16904212	0.94[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs16904219	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs16904223	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16904231	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16904239	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16904241	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16904242	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16904249	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1960661	0.82[EUR][1000 genomes]
rs1974313	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2027377	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2305511	0.84[ASW][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap]
rs36004574	0.82[EUR][1000 genomes]
rs3812476	1.00[ASW][hapmap];0.82[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs4733772	0.82[EUR][1000 genomes]
rs4733782	1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4733783	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4733788	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57198371	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62525884	0.82[EUR][1000 genomes]
rs62525885	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62525888	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62525889	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62525921	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62525922	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62525927	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62525928	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6415511	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6415512	1.00[YRI][hapmap]
rs6415513	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6415514	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6415517	1.00[ASW][hapmap];0.94[CEU][hapmap];0.87[CHB][hapmap];0.93[GIH][hapmap];0.82[MEX][hapmap]
rs6470813	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6470814	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6991714	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.80[ASN][1000 genomes]
rs6996469	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6999216	1.00[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7006336	0.80[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs716077	0.82[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs72722366	0.80[EUR][1000 genomes]
rs72722371	0.81[EUR][1000 genomes]
rs72724420	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72724433	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7462286	1.00[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs754021	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9297806	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131282400-131314800	Weak transcription	Gastric	stomach
2	chr8:131297600-131311400	Weak transcription	Fetal Lung	lung
3	chr8:131300400-131314800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:131301000-131309600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:131301600-131309400	Enhancers	Fetal Heart	heart
6	chr8:131302600-131317400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:131302800-131315400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:131303200-131310400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr8:131304200-131309000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:131304400-131309000	Enhancers	Brain Substantia Nigra	brain
11	chr8:131304400-131309000	Enhancers	Psoas Muscle	Psoas
12	chr8:131304400-131310000	Enhancers	HUVEC	blood vessel
13	chr8:131304400-131315600	Enhancers	Brain Hippocampus Middle	brain
14	chr8:131304600-131309000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr8:131304600-131309000	Enhancers	GM12878-XiMat	blood
16	chr8:131304600-131310600	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr8:131304600-131311800	Enhancers	Brain Anterior Caudate	brain
18	chr8:131304800-131309000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr8:131304800-131312600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:131305200-131313800	Enhancers	Right Ventricle	heart
21	chr8:131305200-131315400	Enhancers	Brain Cingulate Gyrus	brain
22	chr8:131305400-131311800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:131305800-131315400	Enhancers	Stomach Smooth Muscle	stomach
24	chr8:131306000-131309600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:131306000-131309600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:131306000-131314600	Weak transcription	Placenta	Placenta
27	chr8:131306000-131314800	Weak transcription	Fetal Brain Female	brain
28	chr8:131306000-131321200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr8:131306000-131321600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:131306200-131309800	Weak transcription	Thymus	Thymus
31	chr8:131306200-131310600	Enhancers	HepG2	liver
32	chr8:131306200-131312200	Weak transcription	Fetal Brain Male	brain
33	chr8:131306200-131314000	Weak transcription	Hela-S3	cervix
34	chr8:131306200-131314600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr8:131306200-131314600	Weak transcription	Fetal Thymus	thymus
36	chr8:131306200-131315000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:131306400-131309800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:131306400-131310000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:131306400-131310400	Weak transcription	HMEC	breast
40	chr8:131306400-131312600	Weak transcription	Stomach Mucosa	stomach
41	chr8:131306600-131310000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:131306600-131310400	Enhancers	NHDF-Ad	bronchial
43	chr8:131306800-131309600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr8:131306800-131309600	Weak transcription	Lung	lung
45	chr8:131306800-131309600	Weak transcription	Spleen	Spleen
46	chr8:131306800-131312800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr8:131306800-131312800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr8:131306800-131314800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr8:131307000-131309000	Enhancers	NHLF	lung
50	chr8:131307000-131310600	Weak transcription	NHEK	skin

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