Variant report

Variant	rs58517661
Chromosome Location	chr8:121174917-121174918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121174529..121176278-chr8:121182602..121184863,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4364673	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4376529	1.00[ASN][1000 genomes]
rs4871038	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4871046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820004	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824436	1.00[ASN][1000 genomes]
rs7838551	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	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	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121154600-121175200	Weak transcription	Aorta	Aorta
2	chr8:121159600-121186200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr8:121165600-121176800	Weak transcription	Psoas Muscle	Psoas
4	chr8:121166400-121177000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:121166400-121177600	Weak transcription	Placenta	Placenta
6	chr8:121166800-121176000	Weak transcription	Ovary	ovary
7	chr8:121166800-121176800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:121167000-121178000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:121170800-121179600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:121172600-121175000	Enhancers	Fetal Lung	lung
11	chr8:121172600-121178400	Enhancers	Fetal Intestine Small	intestine
12	chr8:121173200-121175400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:121173400-121178800	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:121173600-121178400	Enhancers	Fetal Intestine Large	intestine
15	chr8:121173800-121175600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:121174000-121175600	Enhancers	Duodenum Mucosa	Duodenum
17	chr8:121174000-121176800	Weak transcription	Osteobl	bone
18	chr8:121174200-121176800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:121174200-121176800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:121174200-121179600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr8:121174200-121179800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:121174400-121175000	Weak transcription	Fetal Stomach	stomach
23	chr8:121174600-121175600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:121174600-121175600	Strong transcription	Fetal Muscle Leg	muscle

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