Variant report

Variant	rs2230427
Chromosome Location	chr16:31391120-31391121
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:31383689..31387249-chr16:31389640..31393278,4	MCF-7	breast:
2	chr16:31383533..31386035-chr16:31390623..31392276,2	K562	blood:
3	chr16:31384535..31387271-chr16:31390776..31392528,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11863224	1.00[EUR][1000 genomes]
rs13332937	1.00[EUR][1000 genomes]
rs13333019	1.00[EUR][1000 genomes]
rs13337777	1.00[EUR][1000 genomes]
rs28475579	1.00[EUR][1000 genomes]
rs28638273	1.00[EUR][1000 genomes]
rs28735967	1.00[EUR][1000 genomes]
rs56032105	1.00[EUR][1000 genomes]
rs58260800	1.00[EUR][1000 genomes]
rs58585879	1.00[EUR][1000 genomes]
rs59137066	1.00[EUR][1000 genomes]
rs59843953	1.00[EUR][1000 genomes]
rs7184740	1.00[EUR][1000 genomes]
rs7192438	1.00[EUR][1000 genomes]
rs7194219	1.00[EUR][1000 genomes]
rs7197892	1.00[EUR][1000 genomes]
rs74015074	1.00[EUR][1000 genomes]
rs74015528	1.00[EUR][1000 genomes]
rs74015530	1.00[EUR][1000 genomes]
rs74015540	1.00[EUR][1000 genomes]
rs8052027	1.00[EUR][1000 genomes]
rs9925472	1.00[EUR][1000 genomes]
rs9932709	1.00[EUR][1000 genomes]
rs9939859	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059459	chr16:31299088-31462251	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv542901	chr16:31299088-31462251	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
4	nsv1058992	chr16:31337455-31414881	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv542902	chr16:31337455-31414881	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1061980	chr16:31338462-31415471	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
8	nsv1059610	chr16:31368699-31421660	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	esv3438651	chr16:31373520-31422007	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31343000-31400800	Weak transcription	Right Atrium	heart
2	chr16:31381000-31393800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr16:31381000-31395000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr16:31387000-31391200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr16:31387200-31395800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr16:31387800-31394000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr16:31389200-31393800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr16:31389200-31393800	Weak transcription	Gastric	stomach
9	chr16:31389400-31397400	Weak transcription	Pancreas	Pancrea
10	chr16:31389600-31392600	Strong transcription	Spleen	Spleen
11	chr16:31389800-31391200	Weak transcription	Lung	lung
12	chr16:31390200-31393800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr16:31390800-31391800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr16:31390800-31391800	Strong transcription	Liver	Liver
15	chr16:31391000-31391400	Weak transcription	Esophagus	oesophagus

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