Variant report

Variant	rs56287085
Chromosome Location	chr15:78505530-78505531
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11072744	0.81[ASN][1000 genomes]
rs16969575	0.87[EUR][1000 genomes]
rs28454342	0.90[ASN][1000 genomes]
rs56308433	0.87[EUR][1000 genomes]
rs61414053	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74024192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv904430	chr15:78466127-78507316	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78494200-78508800	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr15:78494200-78509800	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr15:78494800-78508800	Enhancers	Brain Hippocampus Middle	brain
4	chr15:78494800-78509800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr15:78495400-78510000	Enhancers	Pancreas	Pancrea
6	chr15:78495400-78511000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr15:78496000-78507200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:78496400-78507800	Enhancers	Brain Anterior Caudate	brain
9	chr15:78497200-78506800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr15:78500800-78506200	Enhancers	Brain Angular Gyrus	brain
11	chr15:78501200-78506200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:78501400-78506000	Enhancers	Stomach Mucosa	stomach
13	chr15:78501600-78506000	Enhancers	Duodenum Mucosa	Duodenum
14	chr15:78501600-78506600	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr15:78501800-78505800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr15:78502000-78506600	Enhancers	Colon Smooth Muscle	Colon
17	chr15:78502200-78505800	Enhancers	K562	blood
18	chr15:78502200-78506400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:78502600-78508800	Weak transcription	Gastric	stomach
20	chr15:78502800-78505600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:78502800-78508200	Weak transcription	Liver	Liver
22	chr15:78503200-78506600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:78503600-78506200	Enhancers	Colonic Mucosa	Colon
24	chr15:78503800-78506400	Enhancers	Fetal Muscle Leg	muscle
25	chr15:78503800-78507800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr15:78504000-78506400	Enhancers	Right Ventricle	heart
27	chr15:78504000-78506600	Enhancers	Esophagus	oesophagus
28	chr15:78504000-78510000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr15:78504200-78505600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr15:78504200-78506000	Enhancers	Placenta	Placenta
31	chr15:78504200-78506800	Enhancers	Right Atrium	heart
32	chr15:78504200-78507600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr15:78504400-78505600	Enhancers	NHDF-Ad	bronchial
34	chr15:78504400-78505600	Enhancers	Osteobl	bone
35	chr15:78504400-78505800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr15:78504400-78505800	Enhancers	Fetal Intestine Small	intestine
37	chr15:78504400-78505800	Enhancers	Stomach Smooth Muscle	stomach
38	chr15:78504400-78505800	Flanking Active TSS	Hela-S3	cervix
39	chr15:78504400-78506000	Enhancers	Fetal Intestine Large	intestine
40	chr15:78504400-78506000	Enhancers	HSMM	muscle
41	chr15:78504400-78509800	Enhancers	Brain Substantia Nigra	brain
42	chr15:78504600-78505600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:78504600-78505800	Enhancers	NH-A	brain
44	chr15:78504600-78506000	Enhancers	Rectal Smooth Muscle	rectum
45	chr15:78504600-78506000	Enhancers	HSMMtube	muscle
46	chr15:78504600-78506600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr15:78504600-78506600	Enhancers	Brain Cingulate Gyrus	brain
48	chr15:78504600-78507200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr15:78504800-78505800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:78504800-78505800	Bivalent Enhancer	NHEK	skin

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