Variant report

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

rs_ID	r²[population]
rs1005930	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4797403	0.82[EUR][1000 genomes]
rs552587	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs606280	0.81[ASN][1000 genomes]
rs624215	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[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	nsv909368	chr18:10142323-10272979	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1059110	chr18:10142983-10596012	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1005931	CEP76	cis	cerebellum	SCAN
rs1005931	TXNDC2	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:10140200-10150600	Weak transcription	Spleen	Spleen
2	chr18:10140600-10150600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:10141600-10150200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:10141800-10150800	Weak transcription	Right Ventricle	heart
5	chr18:10142000-10150600	Weak transcription	Gastric	stomach
6	chr18:10143800-10146200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr18:10144000-10145800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr18:10144400-10146600	Weak transcription	Fetal Stomach	stomach
9	chr18:10144400-10146600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr18:10145200-10145800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr18:10145400-10145800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:10145400-10146000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr18:10145400-10146000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr18:10145400-10146000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr18:10145400-10146200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr18:10145600-10145800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr18:10145600-10145800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr18:10145600-10145800	Enhancers	Fetal Muscle Leg	muscle
19	chr18:10145600-10145800	Enhancers	Ovary	ovary
20	chr18:10145600-10146000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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