Variant report

Variant	rs1010830
Chromosome Location	chr8:121257231-121257232
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10093861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1010831	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955963	0.91[EUR][1000 genomes]
rs11992238	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2198752	0.90[EUR][1000 genomes]
rs35932543	0.92[EUR][1000 genomes]
rs4871049	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871050	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469903	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013077	0.91[EUR][1000 genomes]
rs7017267	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7813903	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7842055	0.92[CEU][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes]
rs957696	0.81[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv612112	chr8:121234298-121385167	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121215200-121260600	Weak transcription	Fetal Intestine Small	intestine
2	chr8:121217200-121261600	Weak transcription	Fetal Intestine Large	intestine
3	chr8:121244400-121260000	Weak transcription	Placenta	Placenta
4	chr8:121254400-121257400	Enhancers	Fetal Muscle Leg	muscle
5	chr8:121254600-121278400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:121254800-121278200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:121255200-121257400	Enhancers	Brain Germinal Matrix	brain
8	chr8:121255400-121278400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:121255800-121260200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:121256000-121257600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:121256000-121258200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:121256200-121257400	Enhancers	Ovary	ovary
13	chr8:121256200-121269400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:121256200-121269800	Weak transcription	Adipose Nuclei	Adipose
15	chr8:121256400-121257400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:121256400-121258600	Enhancers	Colon Smooth Muscle	Colon
17	chr8:121256400-121259200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr8:121256400-121263000	Weak transcription	Left Ventricle	heart
19	chr8:121256400-121266400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr8:121256600-121262000	Weak transcription	HSMMtube	muscle
21	chr8:121256600-121262400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:121256600-121263200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:121256800-121258600	Strong transcription	Aorta	Aorta
24	chr8:121256800-121258800	Strong transcription	Fetal Lung	lung
25	chr8:121256800-121261600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:121257000-121258600	Genic enhancers	Fetal Stomach	stomach
27	chr8:121257200-121258000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr8:121257200-121270200	Weak transcription	Rectal Smooth Muscle	rectum

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