Variant report

Variant	rs1367311
Chromosome Location	chr3:156418756-156418757
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:34282049..34282764-chr3:156418622..156419493,2	Hela-S3	cervix:
2	chr3:156409314..156412375-chr3:156415973..156421497,5	K562	blood:
3	chr3:156407636..156412375-chr3:156415466..156420598,10	K562	blood:
4	chr3:156417836..156420595-chr3:156422104..156423993,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs12497777	1.00[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.83[LWK][hapmap]
rs13063433	0.91[AFR][1000 genomes]
rs13314482	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168247	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17380702	1.00[CHB][hapmap];0.88[CHD][hapmap];0.83[LWK][hapmap]
rs17380954	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs184695	0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs193197	0.83[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs237250	0.83[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap]
rs344018	0.91[ASN][1000 genomes]
rs344027	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs344067	0.88[ASN][1000 genomes]
rs345986	0.83[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs346003	0.88[ASN][1000 genomes]
rs34901284	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs35161260	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs374341	0.88[ASN][1000 genomes]
rs386736	0.83[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap]
rs62277393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62277394	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289971	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9822906	0.90[AFR][1000 genomes]
rs9871258	0.88[CHB][hapmap];0.91[AFR][1000 genomes]
rs9873307	0.91[AFR][1000 genomes]
rs9882795	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]

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	nsv428745	chr3:156405054-156577840	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1367311	C3orf33	cis	parietal	SCAN
rs1367311	TIPARP-AS1	cis	Artery Tibial	GTEx
rs1367311	Hs.54543	cis	multi-tissue	Pritchard

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156394000-156436000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:156395600-156438600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:156396400-156424800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:156396600-156441000	Weak transcription	Lung	lung
5	chr3:156403400-156421800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:156407800-156419600	Weak transcription	Esophagus	oesophagus
7	chr3:156407800-156422000	Weak transcription	Fetal Brain Female	brain
8	chr3:156407800-156423800	Weak transcription	Spleen	Spleen
9	chr3:156407800-156424000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:156407800-156428200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:156409000-156429800	Weak transcription	Gastric	stomach
12	chr3:156409200-156422000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr3:156409200-156425400	Weak transcription	Colonic Mucosa	Colon
14	chr3:156409400-156422200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr3:156409400-156425600	Weak transcription	Fetal Brain Male	brain
16	chr3:156409600-156422400	Weak transcription	Fetal Stomach	stomach
17	chr3:156410000-156420400	Weak transcription	Fetal Intestine Small	intestine
18	chr3:156410000-156427400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:156411000-156424200	Genic enhancers	Muscle Satellite Cultured Cells	--
20	chr3:156411200-156419000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr3:156411400-156419200	Strong transcription	Fetal Intestine Large	intestine
22	chr3:156411400-156419800	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr3:156411400-156426000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr3:156411600-156419200	Strong transcription	GM12878-XiMat	blood
25	chr3:156411600-156419600	Strong transcription	Primary T cells from cord blood	blood
26	chr3:156411600-156422200	Weak transcription	Stomach Mucosa	stomach
27	chr3:156411600-156426000	Strong transcription	HSMMtube	muscle
28	chr3:156411600-156429000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:156411800-156425400	Strong transcription	Hela-S3	cervix
30	chr3:156412000-156420200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr3:156412000-156421800	Strong transcription	Liver	Liver
32	chr3:156412400-156429400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:156412600-156419600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:156412600-156422000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr3:156412600-156429200	Strong transcription	HSMM	muscle
36	chr3:156412800-156420000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:156413400-156422000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:156414400-156421200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:156414400-156421400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr3:156414400-156421400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr3:156414400-156423800	Weak transcription	Fetal Lung	lung
42	chr3:156414600-156420200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:156414600-156420400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr3:156414600-156421000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:156414600-156421800	Weak transcription	Colon Smooth Muscle	Colon
46	chr3:156414800-156421400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr3:156414800-156422000	Weak transcription	Brain Angular Gyrus	brain
48	chr3:156414800-156422000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr3:156414800-156426600	Weak transcription	Brain Germinal Matrix	brain
50	chr3:156415200-156420400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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