Variant report

Variant	rs6474522
Chromosome Location	chr8:38929088-38929089
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	REST	chr8:38929007-38929095	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:38928615..38931127-chr8:38932750..38935591,2	K562	blood:
2	chr8:38928387..38930115-chr8:38932750..38934544,2	K562	blood:

Variant related genes	Relation type
ADAM9	TF binding region
ENSG00000168615	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10095517	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10102161	0.81[AMR][1000 genomes]
rs10958534	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10958814	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13250555	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34017677	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35245993	0.90[EUR][1000 genomes]
rs35355873	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4313121	0.81[AMR][1000 genomes]
rs4367507	0.81[AMR][1000 genomes]
rs4576396	0.81[AMR][1000 genomes]
rs4633028	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4733902	0.81[AMR][1000 genomes]
rs4733903	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4733965	0.81[AMR][1000 genomes]
rs4733967	0.81[AMR][1000 genomes]
rs4733968	0.81[AMR][1000 genomes]
rs4733969	0.81[AMR][1000 genomes]
rs6474521	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6474523	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6474524	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6474526	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6474528	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6474529	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6989615	0.81[AMR][1000 genomes]
rs6990299	0.90[EUR][1000 genomes]
rs7003738	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7013359	0.81[AMR][1000 genomes]
rs7833611	0.81[AMR][1000 genomes]
rs7836006	0.83[AMR][1000 genomes]
rs7846203	0.81[AMR][1000 genomes]
rs9643905	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3445313	chr8:38886844-38936643	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	esv3325011	chr8:38899844-38936643	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38897400-38963400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:38902400-38947600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:38905000-38960000	Weak transcription	HSMMtube	muscle
4	chr8:38911600-38930000	Weak transcription	Pancreas	Pancrea
5	chr8:38911600-38933200	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:38911600-38947800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:38911800-38949000	Weak transcription	Brain Substantia Nigra	brain
8	chr8:38911800-38964800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:38912000-38949000	Weak transcription	Brain Angular Gyrus	brain
10	chr8:38914000-38929400	Weak transcription	Liver	Liver
11	chr8:38914200-38934000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:38914400-38964800	Weak transcription	Fetal Kidney	kidney
13	chr8:38914600-38935000	Weak transcription	Brain Anterior Caudate	brain
14	chr8:38914800-38964800	Weak transcription	Colonic Mucosa	Colon
15	chr8:38915200-38940000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:38917400-38929200	Weak transcription	Hela-S3	cervix
17	chr8:38917400-38929800	Weak transcription	Psoas Muscle	Psoas
18	chr8:38917400-38929800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:38917600-38944400	Weak transcription	Esophagus	oesophagus
20	chr8:38917600-38949000	Weak transcription	Spleen	Spleen
21	chr8:38918000-38962600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:38919000-38935000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:38919000-38944400	Weak transcription	Lung	lung
24	chr8:38919000-38949000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:38919000-38952600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:38919000-38970400	Weak transcription	K562	blood
27	chr8:38919600-38964800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:38920200-38934800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr8:38920400-38940800	Weak transcription	Primary B cells from cord blood	blood
30	chr8:38920600-38934400	Weak transcription	Left Ventricle	heart
31	chr8:38920600-38934600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:38920600-38935200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:38920600-38938000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr8:38920600-38963200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:38920800-38935200	Weak transcription	Ovary	ovary
36	chr8:38920800-38940200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:38920800-38964800	Weak transcription	Fetal Brain Male	brain
38	chr8:38921000-38929400	Weak transcription	Adipose Nuclei	Adipose
39	chr8:38921000-38933200	Weak transcription	Placenta	Placenta
40	chr8:38921000-38934600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:38921000-38948000	Weak transcription	Aorta	Aorta
42	chr8:38921000-38948200	Weak transcription	Right Ventricle	heart
43	chr8:38921000-38949000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:38921000-38964800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr8:38921000-38965000	Weak transcription	Gastric	stomach
46	chr8:38921400-38935200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:38921600-38934800	Weak transcription	Fetal Stomach	stomach
48	chr8:38921600-38935200	Weak transcription	Fetal Muscle Leg	muscle
49	chr8:38921600-38936600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:38921600-38964800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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