Variant report

Variant	rs337263
Chromosome Location	chr4:130033665-130033666
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:130030784..130034303-chr4:130034493..130036505,5	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10002332	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs10032000	0.87[CEU][hapmap]
rs1030831	0.93[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1037147	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12171333	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs13109003	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13130762	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1374491	0.93[CEU][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1699379	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1699380	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1699384	0.93[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1699385	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1699387	0.83[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1699388	0.93[CEU][hapmap];0.89[CHB][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1699389	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1699391	0.93[CEU][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1699393	0.93[CEU][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1699394	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17014265	0.89[CHB][hapmap];0.92[JPT][hapmap]
rs1709419	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1709422	0.89[YRI][hapmap]
rs17185550	0.86[YRI][hapmap]
rs1756012	0.93[CEU][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1757924	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1757925	0.93[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1757927	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1757928	0.87[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1757930	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1757935	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1757936	0.81[LWK][hapmap];0.82[MEX][hapmap];0.80[AMR][1000 genomes]
rs1854773	0.93[CEU][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1854774	0.93[CEU][hapmap];0.96[YRI][hapmap]
rs189235	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2034498	0.86[EUR][1000 genomes]
rs2083634	0.93[CEU][hapmap]
rs2198042	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs2597836	0.87[EUR][1000 genomes]
rs2655310	0.93[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs280603	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs280604	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs3099899	0.92[CEU][hapmap];0.89[YRI][hapmap];0.91[EUR][1000 genomes]
rs3105369	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3113489	0.87[CEU][hapmap];0.82[CHD][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3113490	0.80[AMR][1000 genomes]
rs318543	0.87[CEU][hapmap]
rs318552	0.87[CEU][hapmap]
rs337270	0.94[EUR][1000 genomes]
rs337275	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs337277	0.83[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.89[LWK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs337278	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35006492	0.89[EUR][1000 genomes]
rs389376	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs390260	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs391396	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs395864	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs426521	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4394010	0.89[EUR][1000 genomes]
rs445294	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4466058	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs474667	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs474794	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs487233	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs487501	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4975193	0.89[ASW][hapmap];0.93[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4975194	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs517659	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57501568	0.90[EUR][1000 genomes]
rs576492	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58689608	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6534707	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66921209	0.87[EUR][1000 genomes]
rs7655841	0.93[CEU][hapmap];0.93[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs7671508	0.82[MEX][hapmap];0.80[AMR][1000 genomes]
rs789982	0.80[AMR][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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs337263	C4orf33	cis	multi-tissue	Pritchard
rs337263	C4orf33	cis	parietal	SCAN
rs337263	C4orf33	cis	Artery Tibial	GTEx
rs337263	C4orf33	cis	Adipose Subcutaneous	GTEx
rs337263	C4orf33	cis	Whole Blood	GTEx
rs337263	C4orf33	cis	cerebellum	SCAN
rs337263	LOC132321	cis	normal skin	skin_eQTL
rs337263	C4orf33	cis	lymphoblastoid	seeQTL
rs337263	SCLT1	cis	cerebellum	SCAN
rs337263	ZNF226	trans	cerebellum	SCAN
rs337263	C4orf33	cis	Lymphoblastoid	GTEx
rs337263	LOC132321	cis	multi-tissue	Pritchard

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130017600-130040400	Weak transcription	Lung	lung
2	chr4:130017800-130034200	Weak transcription	Colonic Mucosa	Colon
3	chr4:130018000-130034000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:130018000-130038000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr4:130018800-130033800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:130025800-130035000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:130028800-130036600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr4:130029200-130040000	Weak transcription	Esophagus	oesophagus
9	chr4:130029400-130035400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:130029400-130041200	Weak transcription	Spleen	Spleen
11	chr4:130029600-130038600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:130030400-130034000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:130030800-130034000	Weak transcription	NHEK	skin
14	chr4:130030800-130035600	Weak transcription	Gastric	stomach
15	chr4:130031400-130036800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr4:130031800-130034000	Weak transcription	Fetal Stomach	stomach
17	chr4:130031800-130034800	Weak transcription	K562	blood
18	chr4:130031800-130035800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:130031800-130035800	Weak transcription	Left Ventricle	heart
20	chr4:130031800-130036800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:130031800-130037400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:130031800-130037400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr4:130031800-130039800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr4:130031800-130040000	Weak transcription	Dnd41	blood
25	chr4:130032000-130034600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:130032000-130034800	Weak transcription	Primary B cells from cord blood	blood
27	chr4:130032000-130035400	Weak transcription	Ovary	ovary
28	chr4:130032000-130037400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr4:130032200-130033800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:130032200-130033800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr4:130032200-130033800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:130032200-130033800	Weak transcription	Fetal Thymus	thymus
33	chr4:130032200-130033800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr4:130032200-130034400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:130032200-130034800	Weak transcription	Adipose Nuclei	Adipose
36	chr4:130032200-130034800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:130032200-130035000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:130032400-130034000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:130032400-130034000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr4:130032400-130034000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr4:130032400-130034200	Weak transcription	Liver	Liver
42	chr4:130032400-130034600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr4:130032400-130034600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr4:130032400-130034600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr4:130032400-130034800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr4:130032400-130035200	Weak transcription	Pancreas	Pancrea
47	chr4:130032400-130036400	Weak transcription	Fetal Heart	heart
48	chr4:130032400-130037800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr4:130032400-130038000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr4:130032400-130038200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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