Variant report

Variant	rs8191226
Chromosome Location	chr16:82125051-82125052
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:82119460..82121680-chr16:82123785..82126010,2	MCF-7	breast:
2	chr16:82115526..82118305-chr16:82123989..82125939,2	K562	blood:
3	chr16:82122956..82125901-chr16:82268346..82271123,2	K562	blood:
4	chr16:82123385..82125267-chr16:82203354..82206097,2	K562	blood:

Variant related genes	Relation type
ENSG00000261029	Chromatin interaction
ENSG00000135698	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11649253	0.81[ASN][1000 genomes]
rs72547403	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72550716	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74029374	1.00[ASN][1000 genomes]
rs8191207	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8191211	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8191220	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8191246	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	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
2	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
3	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
4	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82116000-82127400	Weak transcription	Gastric	stomach
2	chr16:82118000-82135800	Weak transcription	Pancreas	Pancrea
3	chr16:82118600-82134800	Weak transcription	Colonic Mucosa	Colon
4	chr16:82119200-82129000	Strong transcription	Duodenum Mucosa	Duodenum
5	chr16:82119200-82135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:82119400-82126200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr16:82122200-82134400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr16:82123400-82129200	Strong transcription	Placenta	Placenta
9	chr16:82123400-82129200	Strong transcription	HepG2	liver
10	chr16:82123800-82126400	Strong transcription	Fetal Intestine Small	intestine
11	chr16:82124000-82128000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr16:82124000-82132600	Strong transcription	Liver	Liver
13	chr16:82124200-82126400	Strong transcription	Fetal Intestine Large	intestine
14	chr16:82124200-82126600	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr16:82124200-82127000	Enhancers	HSMMtube	muscle
16	chr16:82124200-82127400	Enhancers	NHDF-Ad	bronchial
17	chr16:82124200-82128000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr16:82124200-82129000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:82124400-82125400	Genic enhancers	Fetal Stomach	stomach
20	chr16:82124400-82126400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr16:82124400-82127200	Enhancers	NHLF	lung
22	chr16:82124400-82127600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr16:82124600-82125200	Enhancers	Colon Smooth Muscle	Colon
24	chr16:82124600-82125200	Enhancers	Osteobl	bone
25	chr16:82124600-82125600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr16:82124600-82125600	Enhancers	NH-A	brain
27	chr16:82124600-82126000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:82124600-82127000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr16:82124600-82128000	Enhancers	HSMM	muscle
30	chr16:82124600-82128200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr16:82124600-82128600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr16:82124600-82128600	Enhancers	HMEC	breast
33	chr16:82124600-82128600	Enhancers	NHEK	skin
34	chr16:82124800-82125400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr16:82124800-82125400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr16:82124800-82125400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr16:82125000-82126600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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