Variant report

Variant	rs8049006
Chromosome Location	chr16:82079660-82079661
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	chr16:82076564..82079746-chr16:82084157..82087056,3	K562	blood:
2	chr16:82078303..82081047-chr16:82203000..82205229,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135698	Chromatin interaction
ENSG00000261029	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11861598	1.00[ASN][1000 genomes]
rs13335950	1.00[ASN][1000 genomes]
rs13336004	1.00[ASN][1000 genomes]
rs16956140	1.00[ASN][1000 genomes]
rs16956146	1.00[ASN][1000 genomes]
rs28880295	1.00[ASN][1000 genomes]
rs4383138	1.00[ASN][1000 genomes]
rs60624959	1.00[ASN][1000 genomes]
rs7184155	0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7201121	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7205168	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7205968	0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7206573	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8047385	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8049510	0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8049750	0.82[YRI][hapmap];0.97[AFR][1000 genomes]
rs8050327	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8056343	0.82[AFR][1000 genomes]
rs8191072	0.88[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8191077	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8191080	0.88[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8191089	0.96[AFR][1000 genomes]
rs9924347	1.00[ASN][1000 genomes]
rs9926701	1.00[ASN][1000 genomes]
rs9932209	1.00[ASN][1000 genomes]

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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82070200-82083400	Weak transcription	Colonic Mucosa	Colon
2	chr16:82070800-82081200	Weak transcription	Pancreas	Pancrea
3	chr16:82074200-82085600	Enhancers	HepG2	liver
4	chr16:82075200-82082400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr16:82076400-82079800	Enhancers	Fetal Lung	lung
6	chr16:82076600-82094800	Enhancers	Fetal Intestine Large	intestine
7	chr16:82077000-82083800	Weak transcription	Lung	lung
8	chr16:82077200-82079800	Enhancers	Fetal Intestine Small	intestine
9	chr16:82077800-82080000	Enhancers	Brain Germinal Matrix	brain
10	chr16:82078000-82080000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:82078200-82080400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr16:82078200-82081000	Genic enhancers	Duodenum Mucosa	Duodenum
13	chr16:82078400-82080600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:82078400-82080600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr16:82078600-82081400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:82079000-82079800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr16:82079000-82079800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr16:82079000-82079800	Enhancers	Stomach Mucosa	stomach
19	chr16:82079000-82080000	Enhancers	Fetal Kidney	kidney
20	chr16:82079200-82079800	Genic enhancers	Placenta	Placenta
21	chr16:82079200-82079800	Enhancers	Gastric	stomach
22	chr16:82079400-82079800	Enhancers	Fetal Brain Male	brain
23	chr16:82079400-82079800	Enhancers	Small Intestine	intestine
24	chr16:82079400-82080000	Genic enhancers	Liver	Liver
25	chr16:82079400-82081400	Enhancers	Esophagus	oesophagus
26	chr16:82079600-82079800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr16:82079600-82080000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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