Variant report

Variant	rs10093651
Chromosome Location	chr8:121213910-121213911
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	chr8:121208239..121210500-chr8:121213496..121215790,2	K562	blood:

Variant related genes	Relation type
ENSG00000187955	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10085928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11778811	1.00[ASN][1000 genomes]
rs11778912	1.00[ASN][1000 genomes]
rs28860484	1.00[AFR][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	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
3	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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121197800-121221400	Weak transcription	Aorta	Aorta
2	chr8:121206400-121216600	Weak transcription	Fetal Intestine Large	intestine
3	chr8:121206600-121223600	Weak transcription	Placenta	Placenta
4	chr8:121208200-121216600	Weak transcription	Ovary	ovary
5	chr8:121208800-121216800	Weak transcription	Gastric	stomach
6	chr8:121208800-121217200	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:121209200-121216200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:121209200-121216600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:121209200-121216800	Weak transcription	Fetal Stomach	stomach
10	chr8:121209200-121216800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:121210200-121216400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:121210400-121221400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:121210600-121222400	Weak transcription	Left Ventricle	heart
14	chr8:121210800-121216400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:121211400-121214200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:121212000-121227200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:121212200-121216000	Weak transcription	Fetal Lung	lung
18	chr8:121212600-121214200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:121213200-121215000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr8:121213400-121214800	Enhancers	Colon Smooth Muscle	Colon
21	chr8:121213400-121215200	Enhancers	Fetal Intestine Small	intestine

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