Variant report

Variant	rs4948146
Chromosome Location	chr7:51074220-51074221
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:51074031..51076434-chr7:51079718..51082279,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1018941	0.81[AMR][1000 genomes]
rs1018942	0.81[AMR][1000 genomes]
rs1018979	0.81[AMR][1000 genomes]
rs1018980	0.81[AMR][1000 genomes]
rs1024472	0.91[AMR][1000 genomes]
rs10262964	1.00[CEU][hapmap];0.91[AMR][1000 genomes]
rs11760981	0.83[EUR][1000 genomes]
rs11765215	0.81[AMR][1000 genomes]
rs12534954	0.91[AMR][1000 genomes]
rs13310888	0.91[AMR][1000 genomes]
rs1859264	0.91[AMR][1000 genomes]
rs1859265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1859477	0.81[AMR][1000 genomes]
rs1989265	0.81[AMR][1000 genomes]
rs2023879	0.82[AMR][1000 genomes]
rs2189428	1.00[AMR][1000 genomes]
rs2189429	1.00[AMR][1000 genomes]
rs2214494	0.91[AMR][1000 genomes]
rs2214495	0.95[AMR][1000 genomes]
rs2214497	1.00[AMR][1000 genomes]
rs2329569	0.91[AMR][1000 genomes]
rs4947530	0.81[AMR][1000 genomes]
rs4947549	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4948086	0.81[AMR][1000 genomes]
rs4948088	0.81[AMR][1000 genomes]
rs6943902	0.91[AMR][1000 genomes]
rs6961183	1.00[CEU][hapmap]
rs6971609	0.86[AMR][1000 genomes]
rs6979183	0.91[AMR][1000 genomes]
rs720068	0.81[AMR][1000 genomes]
rs7803628	0.81[AMR][1000 genomes]
rs886437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs917073	0.81[AMR][1000 genomes]
rs976088	0.91[AMR][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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv606907	chr7:50899168-51195380	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2761146	chr7:50975457-51957019	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1027122	chr7:50984824-51376078	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv538836	chr7:50984824-51376078	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv830999	chr7:51020735-51164809	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1015410	chr7:51061988-51532557	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv538837	chr7:51061988-51532557	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:51072800-51077000	Weak transcription	Fetal Heart	heart
2	chr7:51073200-51074800	Weak transcription	Pancreas	Pancrea
3	chr7:51074000-51078800	Enhancers	NHDF-Ad	bronchial
4	chr7:51074200-51076000	Enhancers	HSMMtube	muscle

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