Variant report

Variant	rs6501947
Chromosome Location	chr17:67023755-67023756
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:67017236..67020123-chr17:67021606..67025957,3	K562	blood:
2	chr17:67018616..67021531-chr17:67023419..67024932,2	MCF-7	breast:
3	chr17:67015770..67018736-chr17:67021606..67024068,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10512523	0.90[CHB][hapmap]
rs11077858	0.89[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap]
rs11077859	0.89[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap]
rs11077860	0.89[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap]
rs11077884	0.84[CEU][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11453	0.88[ASW][hapmap];0.91[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11657541	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs11871766	0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11871944	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs12325889	0.90[CHB][hapmap]
rs12940103	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12943969	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1541470	0.91[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16973495	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs2191213	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2302292	0.95[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2302293	0.91[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2302294	0.89[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap]
rs36096265	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4548939	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4968983	0.88[ASW][hapmap];0.91[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6501944	0.83[EUR][1000 genomes]
rs7207125	1.00[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.92[MKK][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7215642	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7217543	0.90[CHB][hapmap]
rs7218871	0.94[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8066758	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap]
rs8068236	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8070285	0.95[CHB][hapmap]
rs8070357	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9894490	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66977800-67027400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr17:67000200-67044200	Weak transcription	Right Ventricle	heart
3	chr17:67003800-67030600	Weak transcription	Brain Angular Gyrus	brain
4	chr17:67007600-67042200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr17:67008400-67044000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr17:67009200-67043200	Weak transcription	Pancreas	Pancrea
7	chr17:67009400-67044000	Weak transcription	Colon Smooth Muscle	Colon
8	chr17:67010400-67041200	Weak transcription	NHDF-Ad	bronchial
9	chr17:67011400-67027200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr17:67011400-67032600	Weak transcription	Fetal Muscle Leg	muscle
11	chr17:67011600-67039200	Weak transcription	Left Ventricle	heart
12	chr17:67014000-67044200	Weak transcription	Psoas Muscle	Psoas
13	chr17:67016200-67025800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:67016400-67024400	Strong transcription	Liver	Liver
15	chr17:67019600-67024000	Strong transcription	Adipose Nuclei	Adipose
16	chr17:67019600-67024800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr17:67022000-67024200	Strong transcription	Fetal Lung	lung
18	chr17:67022400-67032000	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr17:67023200-67027000	Weak transcription	Ovary	ovary
20	chr17:67023200-67033000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr17:67023600-67024000	Strong transcription	Skeletal Muscle Male	skeletal muscle

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