Variant report

Variant	rs17827510
Chromosome Location	chr8:121265253-121265254
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121265001..121267292-chr8:121277170..121279502,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1006203	0.97[ASN][1000 genomes]
rs10955963	0.97[ASN][1000 genomes]
rs12679689	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13258640	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13258857	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2198752	0.96[ASN][1000 genomes]
rs2290519	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2305604	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35932543	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60791395	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7008903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7013077	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7823333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832461	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7832647	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7842055	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]

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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121254600-121278400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:121254800-121278200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:121255400-121278400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:121256200-121269400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:121256200-121269800	Weak transcription	Adipose Nuclei	Adipose
6	chr8:121256400-121266400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:121257200-121270200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:121258000-121274600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:121259800-121265400	Strong transcription	Fetal Lung	lung
10	chr8:121260400-121271800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:121262000-121275400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:121262800-121283800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:121263000-121265400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:121263200-121269400	Weak transcription	HSMMtube	muscle
15	chr8:121263800-121267000	Weak transcription	Aorta	Aorta
16	chr8:121263800-121268400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:121263800-121268600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:121263800-121269200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:121263800-121269800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:121263800-121269800	Weak transcription	Fetal Intestine Small	intestine
21	chr8:121263800-121270000	Weak transcription	Fetal Intestine Large	intestine
22	chr8:121263800-121271800	Weak transcription	Placenta	Placenta
23	chr8:121263800-121275600	Weak transcription	Fetal Muscle Leg	muscle
24	chr8:121264000-121267200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:121264000-121270400	Weak transcription	Ovary	ovary
26	chr8:121264800-121267600	Strong transcription	Fetal Stomach	stomach

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