Variant report

Variant	rs4725937
Chromosome Location	chr7:150451737-150451738
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	chr7:150145515..150146050-chr7:150451468..150452076,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10239400	0.85[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10242011	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10271868	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10361	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1046355	0.85[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11760839	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12703098	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17173582	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2286898	0.87[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2286899	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28418764	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28505524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28641865	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34078863	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34906783	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35112724	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35257925	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57024360	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62490401	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62490403	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6598	0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6980405	0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs759011	0.85[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7807580	0.90[ASN][1000 genomes]
rs9657886	0.92[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9657890	0.94[JPT][hapmap]
rs9657894	0.85[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9657898	0.85[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9657900	0.85[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9969148	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9969242	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9969243	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9969309	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	esv2758617	chr7:150251949-150463804	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	esv2759573	chr7:150251949-150463804	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4725937	IAN4L1	cis	multi-tissue	Pritchard
rs4725937	LRRC61	cis	parietal	SCAN
rs4725937	GIMAP5	cis	lymphoblastoid	seeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150442400-150454600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr7:150443000-150452200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr7:150443200-150452200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:150443200-150452400	Weak transcription	Spleen	Spleen
5	chr7:150444600-150452200	Enhancers	Primary T cells from cord blood	blood
6	chr7:150445400-150452000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:150445600-150452200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr7:150446200-150452200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr7:150448600-150452400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr7:150448800-150454200	Enhancers	Fetal Heart	heart
11	chr7:150449000-150454000	Enhancers	GM12878-XiMat	blood
12	chr7:150449400-150461000	Weak transcription	Liver	Liver
13	chr7:150449800-150452200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:150450000-150452000	Enhancers	Dnd41	blood
15	chr7:150450000-150452200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:150450000-150452400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr7:150450000-150453800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr7:150450000-150453800	Enhancers	Primary hematopoietic stem cells	blood
19	chr7:150450000-150453800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:150450200-150454000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr7:150450400-150452400	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:150450400-150453400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:150450600-150452800	Weak transcription	Left Ventricle	heart
24	chr7:150451000-150452000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:150451200-150454200	Enhancers	HUVEC	blood vessel
26	chr7:150451400-150451800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr7:150451400-150451800	Weak transcription	Fetal Thymus	thymus
28	chr7:150451400-150452200	Weak transcription	Right Atrium	heart
29	chr7:150451400-150452200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr7:150451400-150452800	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr7:150451400-150453000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:150451400-150453200	Weak transcription	Right Ventricle	heart
33	chr7:150451400-150453600	Enhancers	Adipose Nuclei	Adipose
34	chr7:150451400-150453800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr7:150451600-150452000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr7:150451600-150452000	Weak transcription	Brain Substantia Nigra	brain
37	chr7:150451600-150452200	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr7:150451600-150453200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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