Variant report

Variant	rs59496630
Chromosome Location	chr8:59031002-59031003
allele	A/G
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	TEAD4	chr8:59030792-59031153	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr8:59030730-59031151	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000242595	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10504240	0.85[EUR][1000 genomes]
rs1507080	0.84[EUR][1000 genomes]
rs1507081	0.90[EUR][1000 genomes]
rs16923044	0.84[EUR][1000 genomes]
rs16923053	0.84[EUR][1000 genomes]
rs16923066	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16923074	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16923080	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17240058	0.89[EUR][1000 genomes]
rs56084388	0.84[EUR][1000 genomes]
rs56171966	0.84[EUR][1000 genomes]
rs56780714	0.90[EUR][1000 genomes]
rs57599317	0.84[EUR][1000 genomes]
rs6471683	0.84[EUR][1000 genomes]
rs66631237	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72660384	0.89[EUR][1000 genomes]
rs72660388	0.84[EUR][1000 genomes]
rs72660390	0.90[EUR][1000 genomes]
rs72660399	0.84[EUR][1000 genomes]
rs72660400	0.84[EUR][1000 genomes]
rs72660402	0.90[EUR][1000 genomes]
rs72662411	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831324	chr8:58844151-59045309	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59011000-59031600	Weak transcription	Liver	Liver
2	chr8:59011400-59035400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:59011600-59031800	Weak transcription	Gastric	stomach
4	chr8:59011600-59044800	Weak transcription	Spleen	Spleen
5	chr8:59014800-59034400	Weak transcription	Fetal Brain Female	brain
6	chr8:59015200-59058200	Weak transcription	Aorta	Aorta
7	chr8:59015400-59036400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:59015400-59037000	Weak transcription	Psoas Muscle	Psoas
9	chr8:59016600-59033600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:59016600-59046200	Weak transcription	Fetal Brain Male	brain
11	chr8:59019400-59036800	Weak transcription	Fetal Kidney	kidney
12	chr8:59020200-59032200	Weak transcription	Brain Germinal Matrix	brain
13	chr8:59020600-59032600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:59021600-59033400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:59021800-59040600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:59021800-59044200	Weak transcription	Fetal Lung	lung
17	chr8:59022400-59050000	Weak transcription	Ovary	ovary
18	chr8:59022800-59033400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr8:59025600-59032000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:59025800-59034200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:59026000-59050600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:59026200-59033600	Weak transcription	Right Ventricle	heart
23	chr8:59026200-59049800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:59028000-59033400	Weak transcription	HSMMtube	muscle
25	chr8:59028000-59040800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:59028400-59034200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr8:59028600-59042000	Weak transcription	Lung	lung
28	chr8:59028800-59040600	Weak transcription	NHDF-Ad	bronchial
29	chr8:59029000-59031400	Weak transcription	HepG2	liver
30	chr8:59029000-59032200	Weak transcription	Fetal Heart	heart
31	chr8:59029000-59033400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:59029000-59033600	Weak transcription	HSMM	muscle
33	chr8:59029000-59058000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:59029400-59035400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:59029600-59033400	Weak transcription	Pancreas	Pancrea
36	chr8:59029600-59033400	Weak transcription	Right Atrium	heart
37	chr8:59030000-59031400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr8:59030000-59033400	Weak transcription	Fetal Stomach	stomach
39	chr8:59030000-59034600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:59030600-59031200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr8:59030600-59031200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr8:59030600-59031400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr8:59030800-59031200	Enhancers	Fetal Muscle Leg	muscle
44	chr8:59030800-59031400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr8:59030800-59031400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr8:59030800-59031400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr8:59030800-59031600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr8:59030800-59031800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:59030800-59032800	Enhancers	Left Ventricle	heart
50	chr8:59031000-59031200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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