Variant report

Variant	rs4568415
Chromosome Location	chr6:76041994-76041995
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1018471	0.81[CHB][hapmap]
rs10806035	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs10943241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13220419	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2207600	0.88[CEU][hapmap]
rs2703668	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2703708	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2703711	0.93[EUR][1000 genomes]
rs2703715	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs2703716	0.89[EUR][1000 genomes]
rs2748252	0.82[CHB][hapmap]
rs2748253	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs2808188	0.91[CEU][hapmap];0.93[EUR][1000 genomes]
rs2808189	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2808190	0.92[EUR][1000 genomes]
rs2808199	0.88[EUR][1000 genomes]
rs2808203	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2808204	0.88[ASN][1000 genomes]
rs2808208	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2842451	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs2842452	0.90[EUR][1000 genomes]
rs2842455	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2842459	0.82[CHB][hapmap]
rs2842461	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs2842462	0.82[CHB][hapmap]
rs2842463	0.82[CHB][hapmap]
rs2951934	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs2951937	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2951939	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2951945	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs2951946	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2951947	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2951949	0.92[EUR][1000 genomes]
rs2951952	0.91[CEU][hapmap];0.93[EUR][1000 genomes]
rs2998371	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35460935	0.80[AMR][1000 genomes]
rs3935857	0.96[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4131550	0.96[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4273651	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4275021	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4283851	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4295446	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4324739	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4361582	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4374801	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4380723	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4412169	0.94[ASN][1000 genomes]
rs4498313	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4535511	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4541712	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4588651	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4708178	0.87[EUR][1000 genomes]
rs4708179	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs4708181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs502900	0.83[CEU][hapmap]
rs6453824	0.82[EUR][1000 genomes]
rs6453825	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6902022	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6903526	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6904580	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6913979	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6921940	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6929270	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6933680	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6937768	0.88[ASN][1000 genomes]
rs7451911	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7740648	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7743227	0.87[CHB][hapmap];0.83[ASN][1000 genomes]
rs7753528	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7766441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7771904	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7772989	1.00[CEU][hapmap];0.91[CHB][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9341514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9341515	0.95[ASN][1000 genomes]
rs9341516	0.95[ASN][1000 genomes]
rs9343281	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9343283	0.98[ASN][1000 genomes]
rs9352202	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs9352203	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9352204	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9352205	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9352206	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9352207	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9359122	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9443168	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9443169	0.86[ASN][1000 genomes]
rs9443170	0.85[ASN][1000 genomes]
rs9443171	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9447475	0.86[ASN][1000 genomes]
rs9689477	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
6	nsv830698	chr6:75968810-76115592	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv1022428	chr6:76023118-76575620	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
8	nsv538312	chr6:76023118-76575620	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76016200-76044400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:76024800-76042200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:76024800-76047200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:76027800-76044000	Weak transcription	Right Ventricle	heart
5	chr6:76028200-76043800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:76028200-76044000	Weak transcription	Aorta	Aorta
7	chr6:76029800-76044000	Weak transcription	Left Ventricle	heart
8	chr6:76033400-76044000	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:76037000-76044000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:76037200-76042400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:76037200-76042400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:76039400-76042200	Weak transcription	Fetal Heart	heart
13	chr6:76040000-76044000	Enhancers	NHDF-Ad	bronchial
14	chr6:76040400-76042600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:76041000-76042000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr6:76041200-76042200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr6:76041200-76042600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:76041200-76042600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr6:76041200-76042600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:76041200-76042600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:76041200-76042600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:76041400-76042600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
23	chr6:76041400-76044000	Weak transcription	NH-A	brain
24	chr6:76041400-76044000	Weak transcription	NHLF	lung
25	chr6:76041600-76042400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:76041600-76042800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr6:76041600-76042800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr6:76041600-76045200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr6:76041600-76045400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr6:76041800-76042000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr6:76041800-76042200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:76041800-76044000	Enhancers	Fetal Lung	lung
33	chr6:76041800-76044000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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