Variant report

Variant	rs6474524
Chromosome Location	chr8:38931748-38931749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10095517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10100675	0.89[ASN][1000 genomes]
rs10102161	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10104287	0.89[ASN][1000 genomes]
rs10958533	0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs10958534	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10958814	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13250555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17846551	0.89[ASN][1000 genomes]
rs34017677	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35245993	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35355873	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4313121	0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4367507	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4576396	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4633028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733895	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4733896	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4733898	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4733902	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4733903	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4733960	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4733963	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4733965	0.90[JPT][hapmap];0.94[YRI][hapmap];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4733967	1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4733968	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4733969	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6474521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6474522	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6474523	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6474526	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6474527	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6474528	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6474529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6989615	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6990299	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6995969	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7003738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013359	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7829041	0.82[AMR][1000 genomes]
rs7833611	1.00[CHB][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7836006	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7840293	0.89[ASN][1000 genomes]
rs7840746	0.89[ASN][1000 genomes]
rs7844848	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7846203	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9298649	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9643905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:98 , 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	chr8:38911600-38933200	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:38911600-38947800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:38911800-38949000	Weak transcription	Brain Substantia Nigra	brain
7	chr8:38911800-38964800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:38912000-38949000	Weak transcription	Brain Angular Gyrus	brain
9	chr8:38914200-38934000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:38914400-38964800	Weak transcription	Fetal Kidney	kidney
11	chr8:38914600-38935000	Weak transcription	Brain Anterior Caudate	brain
12	chr8:38914800-38964800	Weak transcription	Colonic Mucosa	Colon
13	chr8:38915200-38940000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:38917600-38944400	Weak transcription	Esophagus	oesophagus
15	chr8:38917600-38949000	Weak transcription	Spleen	Spleen
16	chr8:38918000-38962600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:38919000-38935000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:38919000-38944400	Weak transcription	Lung	lung
19	chr8:38919000-38949000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:38919000-38952600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:38919000-38970400	Weak transcription	K562	blood
22	chr8:38919600-38964800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:38920200-38934800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:38920400-38940800	Weak transcription	Primary B cells from cord blood	blood
25	chr8:38920600-38934400	Weak transcription	Left Ventricle	heart
26	chr8:38920600-38934600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:38920600-38935200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:38920600-38938000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:38920600-38963200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:38920800-38935200	Weak transcription	Ovary	ovary
31	chr8:38920800-38940200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:38920800-38964800	Weak transcription	Fetal Brain Male	brain
33	chr8:38921000-38933200	Weak transcription	Placenta	Placenta
34	chr8:38921000-38934600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:38921000-38948000	Weak transcription	Aorta	Aorta
36	chr8:38921000-38948200	Weak transcription	Right Ventricle	heart
37	chr8:38921000-38949000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:38921000-38964800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr8:38921000-38965000	Weak transcription	Gastric	stomach
40	chr8:38921400-38935200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:38921600-38934800	Weak transcription	Fetal Stomach	stomach
42	chr8:38921600-38935200	Weak transcription	Fetal Muscle Leg	muscle
43	chr8:38921600-38936600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:38921600-38964800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:38922000-38950400	Weak transcription	Fetal Brain Female	brain
46	chr8:38922600-38933600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:38922600-38937800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr8:38922600-38940200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:38922600-38940400	Weak transcription	GM12878-XiMat	blood
50	chr8:38922800-38932600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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