Variant report

Variant	rs4532510
Chromosome Location	chr7:17971224-17971225
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	chr7:17963843..17966777-chr7:17969342..17971472,2	K562	blood:
2	chr7:17965161..17967568-chr7:17969266..17972579,3	K562	blood:

Extended variants
information (count: 166 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs10216315	0.89[ASN][1000 genomes]
rs10227224	0.88[ASN][1000 genomes]
rs10227501	0.83[ASN][1000 genomes]
rs10227582	0.87[ASN][1000 genomes]
rs10231926	0.82[ASN][1000 genomes]
rs10264355	0.88[EUR][1000 genomes]
rs10264445	0.82[EUR][1000 genomes]
rs10264447	0.81[EUR][1000 genomes]
rs10265373	0.89[ASN][1000 genomes]
rs1051603	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11768866	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11983260	0.89[ASN][1000 genomes]
rs12699918	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1357796	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1404414	0.92[EUR][1000 genomes]
rs1404421	0.87[EUR][1000 genomes]
rs1404422	0.88[EUR][1000 genomes]
rs1404424	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1404425	0.89[EUR][1000 genomes]
rs1524774	0.92[EUR][1000 genomes]
rs1524775	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1524777	0.89[EUR][1000 genomes]
rs1568815	0.87[ASN][1000 genomes]
rs1568817	0.87[ASN][1000 genomes]
rs1568818	0.87[ASN][1000 genomes]
rs1830006	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1852010	0.89[EUR][1000 genomes]
rs1852011	0.87[EUR][1000 genomes]
rs1965534	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1997019	0.89[EUR][1000 genomes]
rs2030725	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2103144	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2140710	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2177652	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2254176	0.88[EUR][1000 genomes]
rs2462512	0.90[EUR][1000 genomes]
rs2691552	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2691553	0.89[EUR][1000 genomes]
rs2691555	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2691557	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2691558	0.87[ASN][1000 genomes]
rs2691559	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2691560	0.87[ASN][1000 genomes]
rs2691561	0.87[ASN][1000 genomes]
rs2691562	0.87[ASN][1000 genomes]
rs2691563	0.87[ASN][1000 genomes]
rs2691564	0.87[ASN][1000 genomes]
rs2691566	0.87[ASN][1000 genomes]
rs2691567	0.85[ASN][1000 genomes]
rs2691568	0.87[ASN][1000 genomes]
rs2691569	0.87[ASN][1000 genomes]
rs2691570	0.87[ASN][1000 genomes]
rs2691571	0.87[ASN][1000 genomes]
rs2691577	0.82[ASN][1000 genomes]
rs2691578	0.82[ASN][1000 genomes]
rs2691579	0.82[ASN][1000 genomes]
rs2691580	0.83[ASN][1000 genomes]
rs2691581	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2691582	0.89[EUR][1000 genomes]
rs2691583	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2691585	0.89[EUR][1000 genomes]
rs2691586	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2691589	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2691592	0.88[EUR][1000 genomes]
rs2691593	0.88[EUR][1000 genomes]
rs2691594	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2691595	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2691596	0.88[EUR][1000 genomes]
rs2691597	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2691600	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2691601	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2691602	0.93[EUR][1000 genomes]
rs2691604	0.88[EUR][1000 genomes]
rs2691605	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2691607	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2691609	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2691610	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2691611	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2691612	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2691613	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2691615	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2691616	0.88[EUR][1000 genomes]
rs2691617	0.82[EUR][1000 genomes]
rs2691618	0.95[EUR][1000 genomes]
rs2691620	0.96[EUR][1000 genomes]
rs2691621	0.88[EUR][1000 genomes]
rs2691623	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2691625	0.87[EUR][1000 genomes]
rs2691627	0.88[EUR][1000 genomes]
rs2691628	0.88[EUR][1000 genomes]
rs2691629	0.88[EUR][1000 genomes]
rs2691630	0.88[EUR][1000 genomes]
rs2714855	0.82[ASN][1000 genomes]
rs2714857	0.85[ASN][1000 genomes]
rs2714859	0.87[ASN][1000 genomes]
rs2714860	0.87[ASN][1000 genomes]
rs2714861	0.87[ASN][1000 genomes]
rs2714863	0.86[ASN][1000 genomes]
rs2714864	0.87[ASN][1000 genomes]
rs2714865	0.87[ASN][1000 genomes]
rs2714866	0.87[ASN][1000 genomes]
rs2714867	0.86[ASN][1000 genomes]
rs2714868	0.87[ASN][1000 genomes]
rs2714869	0.87[ASN][1000 genomes]
rs2714870	0.87[ASN][1000 genomes]
rs2714875	0.91[EUR][1000 genomes]
rs2714876	0.97[EUR][1000 genomes]
rs2714877	0.97[EUR][1000 genomes]
rs2723494	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2723496	0.89[EUR][1000 genomes]
rs2723497	0.88[EUR][1000 genomes]
rs2723498	0.88[EUR][1000 genomes]
rs2723499	0.88[EUR][1000 genomes]
rs2723500	0.88[EUR][1000 genomes]
rs2723501	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2723502	0.90[EUR][1000 genomes]
rs2723503	0.88[EUR][1000 genomes]
rs2723504	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2723505	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2723506	0.88[EUR][1000 genomes]
rs2723507	0.88[EUR][1000 genomes]
rs2723508	0.87[EUR][1000 genomes]
rs2723515	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2723540	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2723545	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2723552	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2723553	0.86[EUR][1000 genomes]
rs2723554	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2723555	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2723556	0.91[EUR][1000 genomes]
rs2723562	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2723567	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2723569	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2723570	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2723571	0.96[EUR][1000 genomes]
rs2723572	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35819944	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4316058	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4543433	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4719525	0.86[ASN][1000 genomes]
rs4721661	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4721665	0.95[EUR][1000 genomes]
rs4721671	0.83[ASN][1000 genomes]
rs56287412	0.89[ASN][1000 genomes]
rs67452591	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6953831	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6955984	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6958131	0.83[EUR][1000 genomes]
rs6958211	0.84[EUR][1000 genomes]
rs6973480	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6978097	0.86[EUR][1000 genomes]
rs6978103	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs949451	0.85[EUR][1000 genomes]
rs9942602	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs998342	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533938	chr7:17254118-18040301	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv830913	chr7:17848480-18034218	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1026629	chr7:17862477-18362404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1025023	chr7:17865796-18357630	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
8	nsv887808	chr7:17920613-18150005	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1018517	chr7:17926468-18127372	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv606357	chr7:17938491-18375245	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
11	nsv531013	chr7:17970218-18248642	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17911400-17977400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:17955000-17977400	Weak transcription	Fetal Intestine Small	intestine
3	chr7:17955400-17973000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:17959000-17971400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:17959600-17972800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:17961800-17977400	Weak transcription	Brain Angular Gyrus	brain
7	chr7:17961800-17978800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:17962000-17973400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:17962000-17975800	Weak transcription	Hela-S3	cervix
10	chr7:17962200-17973200	Weak transcription	Primary B cells from cord blood	blood
11	chr7:17962200-17977400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:17962400-17978600	Weak transcription	Aorta	Aorta
13	chr7:17963400-17972400	Weak transcription	Right Ventricle	heart
14	chr7:17963400-17977000	Weak transcription	Fetal Lung	lung
15	chr7:17963400-17977400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:17963800-17977800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:17965400-17977200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:17966600-17974800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr7:17967000-17972400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:17967200-17972800	Weak transcription	Spleen	Spleen
21	chr7:17967200-17978800	Weak transcription	Lung	lung
22	chr7:17968000-17971600	Weak transcription	Small Intestine	intestine
23	chr7:17968200-17972200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:17968200-17973800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr7:17968800-17975200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:17969200-17971600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr7:17969200-17971800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr7:17969200-17977800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr7:17969600-17973400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:17970200-17971400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr7:17970200-17971400	Enhancers	Brain Hippocampus Middle	brain
32	chr7:17970400-17971600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:17970400-17971600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr7:17970400-17973600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:17970600-17971400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr7:17970600-17972200	Enhancers	Fetal Heart	heart
37	chr7:17970600-17972400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr7:17970600-17972800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr7:17970600-17972800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr7:17970600-17973000	Enhancers	Liver	Liver
41	chr7:17970600-17973400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:17970600-17974000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr7:17970600-17974200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr7:17970600-17977400	Weak transcription	Ovary	ovary
45	chr7:17970600-17978800	Weak transcription	Pancreas	Pancrea
46	chr7:17970800-17971600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:17970800-17971600	Enhancers	Colon Smooth Muscle	Colon
48	chr7:17970800-17972400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:17970800-17973600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr7:17970800-17974400	Weak transcription	HepG2	liver

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