Variant report

Variant	rs10958814
Chromosome Location	chr8:38905215-38905216
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10095517	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10100675	0.89[ASN][1000 genomes]
rs10102161	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10104287	0.89[ASN][1000 genomes]
rs10958533	0.82[EUR][1000 genomes]
rs10958534	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13250555	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17846551	0.89[ASN][1000 genomes]
rs34017677	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35245993	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35355873	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4313121	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4367507	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4576396	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4633028	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733895	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4733896	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4733898	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4733902	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4733903	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4733960	0.89[ASN][1000 genomes]
rs4733963	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4733965	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4733967	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4733968	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4733969	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6474521	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6474522	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6474523	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6474524	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6474526	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6474527	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6474528	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6474529	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6989615	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6990299	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003738	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013359	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7829041	0.86[AMR][1000 genomes]
rs7833611	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7836006	0.84[AFR][1000 genomes];0.95[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	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7846203	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9298649	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9643905	0.97[AFR][1000 genomes];1.00[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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38882000-38913600	Weak transcription	Fetal Kidney	kidney
2	chr8:38883000-38913000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:38885800-38911200	Weak transcription	Ovary	ovary
4	chr8:38887400-38911200	Weak transcription	Aorta	Aorta
5	chr8:38888400-38905400	Weak transcription	Primary B cells from cord blood	blood
6	chr8:38890200-38911200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:38890200-38914400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:38890400-38919800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:38895600-38911200	Weak transcription	Fetal Stomach	stomach
10	chr8:38896000-38918400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:38896000-38925000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:38896200-38907600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:38896200-38911200	Weak transcription	Placenta	Placenta
14	chr8:38896200-38911200	Weak transcription	Left Ventricle	heart
15	chr8:38896200-38916000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:38896400-38916400	Weak transcription	K562	blood
17	chr8:38896600-38912800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr8:38896800-38911200	Weak transcription	Adipose Nuclei	Adipose
19	chr8:38897200-38907000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:38897200-38907800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:38897200-38911200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:38897400-38963400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr8:38897600-38918600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:38899800-38911400	Weak transcription	Brain Angular Gyrus	brain
25	chr8:38899800-38916600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr8:38900000-38905800	Weak transcription	Liver	Liver
27	chr8:38900000-38911200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:38900000-38911400	Weak transcription	Brain Substantia Nigra	brain
29	chr8:38900200-38905400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr8:38900200-38905600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:38900200-38906200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:38900200-38911200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr8:38900400-38911400	Weak transcription	HMEC	breast
34	chr8:38900600-38912800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr8:38900600-38918400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr8:38900600-38925600	Weak transcription	Small Intestine	intestine
37	chr8:38900800-38912000	Weak transcription	Hela-S3	cervix
38	chr8:38901000-38906000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:38901000-38911400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:38901600-38907400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:38901600-38911200	Weak transcription	NHEK	skin
42	chr8:38901800-38905800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr8:38901800-38908000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:38902000-38905400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:38902200-38905800	Weak transcription	Brain Hippocampus Middle	brain
46	chr8:38902200-38908200	Weak transcription	Osteobl	bone
47	chr8:38902200-38911400	Weak transcription	Colon Smooth Muscle	Colon
48	chr8:38902400-38911000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:38902400-38916400	Weak transcription	Right Ventricle	heart
50	chr8:38902400-38920000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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