Variant report

Variant	rs630147
Chromosome Location	chr18:10128032-10128033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs563115	0.88[ASN][1000 genomes]
rs566556	0.90[CHD][hapmap];0.92[JPT][hapmap]
rs604136	0.86[ASN][1000 genomes]
rs633931	0.86[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	nsv518334	chr18:9994685-10132916	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1064540	chr18:9995045-10133804	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1058660	chr18:10006788-10130661	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:10115200-10131600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:10122600-10130600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr18:10122600-10131800	Weak transcription	Right Atrium	heart
4	chr18:10123600-10130200	Weak transcription	Left Ventricle	heart
5	chr18:10123800-10130800	Weak transcription	NHEK	skin
6	chr18:10123800-10131400	Weak transcription	Pancreas	Pancrea
7	chr18:10124400-10131800	Weak transcription	Spleen	Spleen
8	chr18:10124600-10130600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr18:10124600-10131400	Weak transcription	Right Ventricle	heart
10	chr18:10124800-10131000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr18:10125200-10129000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:10125200-10130400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr18:10125200-10130600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr18:10125400-10128400	Weak transcription	Fetal Heart	heart
15	chr18:10125400-10130600	Weak transcription	Adipose Nuclei	Adipose
16	chr18:10125600-10130800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr18:10125600-10131200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr18:10125600-10131400	Weak transcription	Ovary	ovary
19	chr18:10125800-10131200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:10126000-10128800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr18:10127400-10128200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr18:10127400-10128200	Enhancers	Lung	lung
23	chr18:10127600-10129000	Enhancers	Fetal Lung	lung
24	chr18:10127600-10129200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr18:10127600-10130000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr18:10127600-10133400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr18:10128000-10128200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr18:10128000-10129600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr18:10128000-10129600	Enhancers	Fetal Kidney	kidney
30	chr18:10128000-10130000	Enhancers	NHDF-Ad	bronchial

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