Variant report

Variant	rs11642323
Chromosome Location	chr16:82096800-82096801
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82094565..82097297-chr16:82099404..82102388,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SDR42E1-1	chr16:82096698-82096858	ENSG00000261235.1
2	lnc-SDR42E1-1	chr16:82096698-82096827	ENSG00000261235.1

Variant related genes	Relation type
ENSG00000086696	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11648233	0.81[CEU][hapmap]
rs11860188	0.86[CEU][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2873459	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2911422	0.80[JPT][hapmap]
rs2966245	0.92[CEU][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs3751860	0.96[CEU][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4398102	0.96[CEU][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4497679	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6564961	0.89[CEU][hapmap]
rs7498701	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8044837	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs8059915	0.85[CEU][hapmap]
rs8061074	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8061420	0.82[EUR][1000 genomes]
rs8191138	0.92[CEU][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8191148	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907012	chr16:81986896-82115148	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1058368	chr16:82029516-82152788	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
4	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1061709	chr16:82093183-82159867	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82086200-82103800	Weak transcription	Gastric	stomach
2	chr16:82089400-82105800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr16:82089600-82103800	Weak transcription	Pancreas	Pancrea
4	chr16:82090800-82101000	Enhancers	HepG2	liver
5	chr16:82094400-82097000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:82094600-82097600	Enhancers	Liver	Liver
7	chr16:82094600-82106200	Weak transcription	Lung	lung
8	chr16:82095000-82097000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr16:82095400-82097400	Enhancers	NHDF-Ad	bronchial
10	chr16:82095400-82098000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr16:82095400-82098600	Enhancers	HMEC	breast
12	chr16:82095600-82096800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:82095600-82097800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr16:82095600-82097800	Enhancers	Placenta	Placenta
15	chr16:82095600-82097800	Enhancers	NHLF	lung
16	chr16:82095600-82098000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr16:82095800-82097800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr16:82095800-82098000	Enhancers	NHEK	skin
19	chr16:82096000-82096800	Enhancers	Fetal Lung	lung
20	chr16:82096000-82097000	Weak transcription	Stomach Mucosa	stomach
21	chr16:82096000-82097600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr16:82096000-82097600	Enhancers	Osteobl	bone
23	chr16:82096000-82098000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr16:82096200-82100400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:82096400-82096800	Genic enhancers	Fetal Intestine Small	intestine
26	chr16:82096400-82097600	Enhancers	Esophagus	oesophagus
27	chr16:82096400-82098000	Genic enhancers	Duodenum Mucosa	Duodenum
28	chr16:82096400-82104000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr16:82096600-82096800	Enhancers	Colonic Mucosa	Colon
30	chr16:82096600-82097000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr16:82096600-82097200	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr16:82096600-82099800	Weak transcription	Fetal Intestine Large	intestine
33	chr16:82096800-82097200	Weak transcription	Colonic Mucosa	Colon
34	chr16:82096800-82098000	Enhancers	Fetal Intestine Small	intestine

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