Variant report

Variant	rs2910709
Chromosome Location	chr5:37811864-37811865
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1862574	0.95[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs2910702	0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2910800	0.93[ASN][1000 genomes]
rs2972934	0.95[ASN][1000 genomes]
rs2973038	0.82[ASN][1000 genomes]
rs2973043	0.90[CHB][hapmap];0.80[CHD][hapmap];0.82[ASN][1000 genomes]
rs2973059	0.83[ASN][1000 genomes]
rs2973060	0.95[ASN][1000 genomes]
rs3096140	0.90[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs3749692	0.86[CHB][hapmap];0.90[CHD][hapmap];0.86[MEX][hapmap];0.83[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	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2910709	TTC33	cis	cerebellum	SCAN
rs2910709	UGT3A2	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37808200-37812800	Weak transcription	HSMMtube	muscle
2	chr5:37808800-37813000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:37810000-37812200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:37810000-37812200	Enhancers	NH-A	brain
5	chr5:37810200-37812400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:37810600-37812000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:37810600-37812200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:37810600-37814200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:37810600-37815200	Weak transcription	NHLF	lung
10	chr5:37810800-37812200	Enhancers	GM12878-XiMat	blood
11	chr5:37810800-37816600	Weak transcription	Brain Substantia Nigra	brain
12	chr5:37811000-37816600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:37811200-37812000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr5:37811200-37812200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:37811200-37812600	Enhancers	NHDF-Ad	bronchial
16	chr5:37811200-37813000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:37811200-37817200	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:37811200-37818200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:37811400-37812000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:37811400-37812000	Weak transcription	Fetal Stomach	stomach
21	chr5:37811400-37812200	Enhancers	Osteobl	bone
22	chr5:37811400-37812800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:37811400-37813200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:37811400-37814000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:37811400-37816400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:37811600-37812000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr5:37811600-37812000	Weak transcription	HSMM	muscle
28	chr5:37811600-37813200	Weak transcription	Fetal Intestine Small	intestine
29	chr5:37811600-37814000	Weak transcription	HMEC	breast
30	chr5:37811800-37813200	Enhancers	Colon Smooth Muscle	Colon
31	chr5:37811800-37813800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:37811800-37814800	Weak transcription	NHEK	skin

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