Variant report

Variant	rs56385215
Chromosome Location	chr8:131402654-131402655
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr8:131402599-131402756	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131369806..131373851-chr8:131400186..131403048,3	MCF-7	breast:

Variant related genes	Relation type
ASAP1	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs16904265	1.00[EUR][1000 genomes]
rs16904266	1.00[EUR][1000 genomes]
rs55637017	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55642195	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55686856	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55692599	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55758693	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55759431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55871312	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55891945	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55961633	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55968438	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56194038	1.00[AMR][1000 genomes]
rs56241132	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56285703	0.91[EUR][1000 genomes]
rs56297697	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56308942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56313701	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56323699	1.00[EUR][1000 genomes]
rs56336751	1.00[EUR][1000 genomes]
rs56349599	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56405390	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6993944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6994242	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6994477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6998031	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7004723	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7005271	0.96[EUR][1000 genomes]
rs7462977	1.00[EUR][1000 genomes]
rs7815532	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7821742	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7836688	0.85[AMR][1000 genomes];0.91[EUR][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv982153	chr8:131391067-131407495	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
2	chr8:131374600-131409000	Weak transcription	Fetal Brain Female	brain
3	chr8:131383800-131409200	Weak transcription	Right Atrium	heart
4	chr8:131384800-131408200	Weak transcription	Adipose Nuclei	Adipose
5	chr8:131384800-131408800	Weak transcription	Brain Germinal Matrix	brain
6	chr8:131385800-131408600	Weak transcription	Fetal Brain Male	brain
7	chr8:131388600-131407200	Weak transcription	HSMM	muscle
8	chr8:131388800-131408400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:131389400-131409200	Weak transcription	Pancreas	Pancrea
10	chr8:131390400-131407200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:131390800-131407000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:131392400-131407600	Weak transcription	HSMMtube	muscle
13	chr8:131394200-131408800	Weak transcription	NH-A	brain
14	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
15	chr8:131396200-131408600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:131396800-131408400	Weak transcription	Fetal Heart	heart
17	chr8:131397200-131407400	Weak transcription	Spleen	Spleen
18	chr8:131397400-131407200	Weak transcription	Ovary	ovary
19	chr8:131398200-131408400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr8:131398200-131413600	Weak transcription	Fetal Intestine Small	intestine
21	chr8:131398600-131408200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:131398800-131408800	Weak transcription	Right Ventricle	heart
23	chr8:131398800-131417000	Weak transcription	Esophagus	oesophagus
24	chr8:131399000-131404800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:131399000-131407000	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:131399200-131403000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:131399200-131404800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:131399200-131404800	Weak transcription	HepG2	liver
29	chr8:131399200-131405400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:131399200-131407000	Weak transcription	Fetal Stomach	stomach
31	chr8:131399200-131407200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:131399200-131407200	Weak transcription	Left Ventricle	heart
33	chr8:131399200-131408800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:131399200-131408800	Weak transcription	Brain Anterior Caudate	brain
35	chr8:131399400-131408600	Weak transcription	Fetal Lung	lung
36	chr8:131399400-131409600	Weak transcription	HMEC	breast
37	chr8:131399400-131419600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr8:131399600-131402800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:131399600-131404800	Weak transcription	NHLF	lung
40	chr8:131399600-131407000	Weak transcription	Lung	lung
41	chr8:131400000-131403200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr8:131400200-131403000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr8:131400400-131402800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:131400400-131403000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr8:131400400-131405400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr8:131400600-131403000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr8:131400600-131403800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr8:131400600-131403800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:131400800-131403200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr8:131401200-131408800	Weak transcription	Muscle Satellite Cultured Cells	--

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