Variant report

Variant	rs1869830
Chromosome Location	chr8:121179606-121179607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12541735	0.84[CEU][hapmap]
rs2198749	0.85[CEU][hapmap]
rs4421388	0.84[CEU][hapmap]

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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121159600-121186200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:121174200-121179800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:121175600-121183600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:121176400-121180200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:121176600-121180400	Enhancers	Fetal Lung	lung
6	chr8:121177600-121181200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:121178200-121182400	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:121178200-121184800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:121178400-121194800	Weak transcription	Fetal Intestine Large	intestine
10	chr8:121178800-121179800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:121178800-121180400	Enhancers	Colon Smooth Muscle	Colon
12	chr8:121179200-121180400	Weak transcription	Aorta	Aorta
13	chr8:121179200-121180800	Genic enhancers	Fetal Stomach	stomach
14	chr8:121179400-121179800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:121179400-121180000	Enhancers	Brain Germinal Matrix	brain
16	chr8:121179400-121180200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:121179400-121180800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr8:121179400-121180800	Enhancers	Ovary	ovary
19	chr8:121179600-121179800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:121179600-121179800	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr8:121179600-121180200	Enhancers	Stomach Smooth Muscle	stomach

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