Variant report

Variant	rs4680337
Chromosome Location	chr3:156788451-156788452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:156786906..156789302-chr3:156835545..156837203,2	K562	blood:
2	chr3:156392417..156394296-chr3:156787392..156790127,2	K562	blood:

Variant related genes	Relation type
ENSG00000163659	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1032041	0.86[CHD][hapmap];0.88[JPT][hapmap]
rs10936054	0.88[JPT][hapmap]
rs10936055	0.88[JPT][hapmap]
rs11715321	0.83[CHD][hapmap];0.88[JPT][hapmap]
rs11720579	0.86[CHD][hapmap];0.88[JPT][hapmap]
rs12636741	0.88[JPT][hapmap]
rs13082176	0.88[JPT][hapmap]
rs1384541	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs1482854	0.88[JPT][hapmap]
rs1482855	0.81[CHD][hapmap];0.88[JPT][hapmap]
rs1482856	0.88[JPT][hapmap]
rs1482857	0.88[JPT][hapmap]
rs1600978	0.88[JPT][hapmap]
rs1842840	0.84[CHD][hapmap];0.88[JPT][hapmap]
rs2046269	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs2128535	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4263246	0.88[JPT][hapmap]
rs4479548	0.86[ASN][1000 genomes]
rs4680332	0.88[JPT][hapmap]
rs6799034	0.86[CHD][hapmap];0.88[JPT][hapmap]
rs7616314	0.81[CHD][hapmap];0.88[JPT][hapmap]
rs9811993	0.88[JPT][hapmap]
rs9812759	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9859727	0.88[JPT][hapmap]
rs9867766	0.84[CHD][hapmap];0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349885	chr3:156685409-156878910	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4680337	TIPARP	cis	cerebellum	SCAN
rs4680337	VEPH1	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156782400-156794000	Weak transcription	Right Atrium	heart
2	chr3:156782600-156795000	Weak transcription	Fetal Heart	heart
3	chr3:156782800-156789400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:156782800-156795000	Weak transcription	Adipose Nuclei	Adipose
5	chr3:156783400-156793400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:156784400-156788600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:156785200-156791400	Weak transcription	NHLF	lung
8	chr3:156785200-156791600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:156785200-156791600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:156785200-156791600	Weak transcription	Brain Substantia Nigra	brain
11	chr3:156785200-156793400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:156785400-156788600	Weak transcription	NHDF-Ad	bronchial
13	chr3:156785400-156789600	Weak transcription	GM12878-XiMat	blood
14	chr3:156786000-156791600	Weak transcription	NH-A	brain
15	chr3:156787600-156789000	Enhancers	Stomach Mucosa	stomach
16	chr3:156787600-156789200	Enhancers	Liver	Liver
17	chr3:156787600-156789200	Enhancers	Fetal Intestine Large	intestine
18	chr3:156787800-156788800	Enhancers	Placenta	Placenta
19	chr3:156787800-156789000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:156787800-156789000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:156787800-156789000	Enhancers	Fetal Intestine Small	intestine
22	chr3:156787800-156789000	Enhancers	Pancreas	Pancrea
23	chr3:156787800-156789000	Enhancers	Osteobl	bone
24	chr3:156787800-156789200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr3:156787800-156789200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr3:156788000-156789000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr3:156788000-156789000	Enhancers	Aorta	Aorta
28	chr3:156788000-156789200	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr3:156788000-156789800	Enhancers	Brain Hippocampus Middle	brain
30	chr3:156788200-156788800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:156788200-156788800	Enhancers	HSMM	muscle
32	chr3:156788200-156789000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:156788200-156789000	Enhancers	Small Intestine	intestine
34	chr3:156788200-156794800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr3:156788400-156788600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:156788400-156788800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:156788400-156789000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:156788400-156789000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:156788400-156789000	Enhancers	Brain Anterior Caudate	brain
40	chr3:156788400-156789200	Enhancers	Fetal Thymus	thymus

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