Variant report

Variant	rs55750842
Chromosome Location	chr16:80933919-80933920
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80915855..80918069-chr16:80933257..80936088,3	MCF-7	breast:
2	chr16:80886274..80886849-chr16:80933809..80934549,2	MCF-7	breast:
3	chr16:80930799..80932496-chr16:80932538..80934325,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs72811840	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72811842	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72811845	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72811848	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs889518	0.93[EUR][1000 genomes]
rs889519	0.93[EUR][1000 genomes]
rs9923415	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv3451298	chr16:80696935-80997389	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv3350075	chr16:80696955-80997359	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv1065258	chr16:80887483-81081768	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv1058045	chr16:80918138-81048242	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised 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	31 gene(s)	inside rSNPs	diseases
8	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv907003	chr16:80919668-80951145	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80926600-80934600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:80931000-80934200	Weak transcription	Right Atrium	heart
3	chr16:80933400-80934000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr16:80933400-80934000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr16:80933400-80934000	Enhancers	Adipose Nuclei	Adipose
6	chr16:80933400-80934000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr16:80933400-80934000	Flanking Active TSS	Osteobl	bone
8	chr16:80933400-80934200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:80933400-80934200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr16:80933400-80934400	Enhancers	NHLF	lung
11	chr16:80933400-80934600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr16:80933400-80934800	Enhancers	Brain Anterior Caudate	brain
13	chr16:80933400-80934800	Enhancers	Lung	lung
14	chr16:80933400-80934800	Enhancers	Ovary	ovary
15	chr16:80933400-80934800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr16:80933400-80934800	Enhancers	NHDF-Ad	bronchial
17	chr16:80933400-80935000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:80933400-80935000	Enhancers	Fetal Muscle Leg	muscle
19	chr16:80933400-80935000	Enhancers	Gastric	stomach
20	chr16:80933400-80935200	Enhancers	Fetal Stomach	stomach
21	chr16:80933400-80935600	Enhancers	Hela-S3	cervix
22	chr16:80933600-80934000	Enhancers	Brain Angular Gyrus	brain
23	chr16:80933600-80934000	Enhancers	Brain Cingulate Gyrus	brain
24	chr16:80933600-80934000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr16:80933600-80934000	Enhancers	Fetal Lung	lung
26	chr16:80933600-80934000	Flanking Active TSS	NH-A	brain
27	chr16:80933600-80934200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:80933600-80934400	Enhancers	Placenta	Placenta
29	chr16:80933600-80934400	Enhancers	Spleen	Spleen
30	chr16:80933600-80934600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr16:80933600-80934800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr16:80933600-80934800	Enhancers	Brain Hippocampus Middle	brain
33	chr16:80933600-80935000	Enhancers	Fetal Muscle Trunk	muscle
34	chr16:80933800-80934000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr16:80933800-80934200	Enhancers	Duodenum Mucosa	Duodenum
36	chr16:80933800-80934200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr16:80933800-80934200	Enhancers	HepG2	liver
38	chr16:80933800-80934400	Enhancers	HUVEC	blood vessel
39	chr16:80933800-80934600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:80933800-80934600	Weak transcription	Small Intestine	intestine
41	chr16:80933800-80934800	Enhancers	Brain Substantia Nigra	brain
42	chr16:80933800-80934800	Enhancers	Pancreas	Pancrea
43	chr16:80933800-80935000	Enhancers	Liver	Liver
44	chr16:80933800-80935400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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