Variant report

Variant	rs11648233
Chromosome Location	chr16:82075317-82075318
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82073826..82076229-chr16:82090051..82092539,2	K562	blood:

Variant related genes	Relation type
ENSG00000086696	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11642323	0.81[CEU][hapmap]
rs11860188	0.90[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs2042429	0.83[JPT][hapmap]
rs2966245	0.89[CEU][hapmap]
rs3751860	0.84[CEU][hapmap];0.83[JPT][hapmap]
rs4398102	0.85[CEU][hapmap];0.82[TSI][hapmap]
rs4445895	0.81[CEU][hapmap];0.83[TSI][hapmap]
rs4480799	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4497679	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs6564961	0.92[CEU][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs8044837	0.81[CEU][hapmap]
rs8059915	0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8061074	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8061420	0.81[EUR][1000 genomes]
rs8191138	0.81[CEU][hapmap];0.88[CHD][hapmap];0.84[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82067400-82077000	Weak transcription	Right Atrium	heart
2	chr16:82068800-82077400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:82069200-82076600	Weak transcription	HSMMtube	muscle
4	chr16:82069200-82077400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:82070200-82083400	Weak transcription	Colonic Mucosa	Colon
6	chr16:82070800-82081200	Weak transcription	Pancreas	Pancrea
7	chr16:82071800-82077800	Weak transcription	Stomach Mucosa	stomach
8	chr16:82072800-82077800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:82072800-82077800	Enhancers	Liver	Liver
10	chr16:82072800-82077800	Weak transcription	Gastric	stomach
11	chr16:82072800-82077800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr16:82073000-82076600	Weak transcription	Fetal Kidney	kidney
13	chr16:82074200-82075800	Weak transcription	NHLF	lung
14	chr16:82074200-82078400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr16:82074200-82085600	Enhancers	HepG2	liver
16	chr16:82074400-82076400	Weak transcription	Fetal Lung	lung
17	chr16:82074600-82078000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr16:82074800-82075400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr16:82074800-82075400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr16:82074800-82075400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr16:82074800-82075600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr16:82075000-82075400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr16:82075000-82075600	Enhancers	Fetal Intestine Large	intestine
24	chr16:82075000-82075600	Enhancers	NHEK	skin
25	chr16:82075000-82077200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr16:82075200-82075400	Enhancers	Placenta	Placenta
27	chr16:82075200-82075400	Weak transcription	HMEC	breast
28	chr16:82075200-82076000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr16:82075200-82076600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr16:82075200-82076600	Strong transcription	Fetal Intestine Small	intestine
31	chr16:82075200-82076600	Weak transcription	NHDF-Ad	bronchial
32	chr16:82075200-82077800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:82075200-82082400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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