Variant report

Variant	rs6416943
Chromosome Location	chr17:46601057-46601058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11079823	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12951158	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4459585	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4794726	0.88[AMR][1000 genomes]
rs4794741	1.00[ASW][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6504322	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6504326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6504339	1.00[EUR][1000 genomes]
rs6504397	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7209524	1.00[TSI][hapmap]
rs7224409	1.00[EUR][1000 genomes]
rs7406478	1.00[TSI][hapmap]
rs7406798	1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes]
rs7502340	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7504072	0.83[AMR][1000 genomes]
rs8182315	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9893509	1.00[EUR][1000 genomes]
rs9901839	1.00[EUR][1000 genomes]
rs9906920	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
3	nsv908577	chr17:46584900-46704536	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	343 gene(s)	inside rSNPs	diseases
4	nsv908578	chr17:46592413-46698710	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	335 gene(s)	inside rSNPs	diseases
5	nsv908579	chr17:46592413-46727289	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
6	nsv532113	chr17:46598247-47588570	Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	453 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46592000-46604000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr17:46597800-46601200	Enhancers	NHLF	lung
3	chr17:46598800-46601200	Enhancers	Fetal Kidney	kidney
4	chr17:46598800-46601800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr17:46599000-46601200	Enhancers	Fetal Stomach	stomach
6	chr17:46599200-46601200	Enhancers	Colon Smooth Muscle	Colon
7	chr17:46599400-46601200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr17:46599400-46601200	Enhancers	Rectal Smooth Muscle	rectum
9	chr17:46599400-46601200	Enhancers	NHDF-Ad	bronchial
10	chr17:46599400-46601400	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr17:46600000-46601200	Bivalent Enhancer	Fetal Lung	lung
12	chr17:46600200-46601400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
13	chr17:46600400-46601200	Enhancers	K562	blood
14	chr17:46600400-46603600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:46600400-46605600	Weak transcription	HSMMtube	muscle
16	chr17:46600600-46601800	Enhancers	A549	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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