Variant report

Variant	rs7790499
Chromosome Location	chr7:5777444-5777445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10225845	0.83[AMR][1000 genomes]
rs10271741	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10807950	1.00[ASN][1000 genomes]
rs10951961	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1640231	0.83[ASN][1000 genomes]
rs1725186	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1725187	0.94[ASN][1000 genomes]
rs1990835	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2008418	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2008425	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2112008	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2112010	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2161012	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2161016	0.83[AMR][1000 genomes]
rs2161017	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2345663	0.84[AFR][1000 genomes]
rs2345665	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2345863	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2345864	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2693951	0.83[AMR][1000 genomes]
rs2881234	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28874635	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2908430	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3735288	0.94[ASN][1000 genomes]
rs3857756	0.88[ASN][1000 genomes]
rs3943984	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4720636	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4720639	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720643	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4720645	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4720648	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4724714	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4724716	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4724720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4724721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4724723	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4724727	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4724732	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4724734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60912551	0.88[AFR][1000 genomes]
rs62455878	0.87[ASN][1000 genomes]
rs6463508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6463509	0.83[ASN][1000 genomes]
rs6463511	0.89[EUR][1000 genomes]
rs6463512	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6463515	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66467570	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6944453	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6945676	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6947405	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6953412	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6956990	1.00[ASN][1000 genomes]
rs6957150	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6969486	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6974576	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs710939	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs710940	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs710942	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73343309	0.82[AFR][1000 genomes]
rs73343338	0.83[AFR][1000 genomes]
rs7784394	1.00[ASN][1000 genomes]
rs7792177	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7794571	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7809914	0.87[ASN][1000 genomes]
rs852261	1.00[ASN][1000 genomes]
rs852262	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852264	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852378	0.94[ASN][1000 genomes]
rs852381	0.83[AMR][1000 genomes]
rs852383	0.83[AMR][1000 genomes]
rs852393	1.00[ASN][1000 genomes]
rs852395	1.00[ASN][1000 genomes]
rs852398	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852399	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852401	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852403	1.00[ASN][1000 genomes]
rs852404	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852405	1.00[ASN][1000 genomes]
rs852407	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852408	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852411	1.00[ASN][1000 genomes]
rs852412	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852413	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852414	1.00[ASN][1000 genomes]
rs852416	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852418	0.94[ASN][1000 genomes]
rs852419	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs852437	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852438	0.94[ASN][1000 genomes]
rs852439	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852440	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852442	0.94[ASN][1000 genomes]
rs852443	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852449	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852451	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852455	0.94[ASN][1000 genomes]
rs852458	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852459	0.94[ASN][1000 genomes]
rs852460	0.94[ASN][1000 genomes]
rs852462	0.94[ASN][1000 genomes]
rs852465	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852466	0.94[ASN][1000 genomes]
rs852467	0.94[ASN][1000 genomes]
rs852469	0.94[ASN][1000 genomes]
rs852471	0.94[ASN][1000 genomes]
rs852474	1.00[ASN][1000 genomes]
rs852475	0.94[ASN][1000 genomes]
rs852476	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852477	0.94[ASN][1000 genomes]
rs852480	0.83[AMR][1000 genomes]
rs852487	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852490	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852495	0.83[AMR][1000 genomes]
rs852514	0.94[ASN][1000 genomes]
rs852515	0.83[ASN][1000 genomes]
rs852518	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852521	0.94[ASN][1000 genomes]
rs852523	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852524	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852525	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs941016	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
5	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
6	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
7	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
8	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
9	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
10	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
11	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
12	nsv887419	chr7:5703669-5820383	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
13	nsv830891	chr7:5726301-5895460	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
14	nsv1028601	chr7:5748982-5919098	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
15	nsv1034215	chr7:5748982-6056619	Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
16	nsv1016690	chr7:5749222-6056619	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
17	nsv1027679	chr7:5760731-6056619	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5753200-5794400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:5755000-5780800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:5761600-5785600	Weak transcription	Fetal Brain Male	brain
4	chr7:5761800-5783000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:5762000-5820400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:5762800-5786000	Weak transcription	Fetal Kidney	kidney
7	chr7:5762800-5790200	Weak transcription	Small Intestine	intestine
8	chr7:5765200-5778400	Weak transcription	NHEK	skin
9	chr7:5765200-5780600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:5765200-5790400	Weak transcription	Psoas Muscle	Psoas
11	chr7:5767400-5780000	Weak transcription	Brain Germinal Matrix	brain
12	chr7:5767400-5780200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:5767600-5778400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:5768800-5778400	Weak transcription	Left Ventricle	heart
15	chr7:5768800-5778600	Weak transcription	Lung	lung
16	chr7:5768800-5780600	Weak transcription	Esophagus	oesophagus
17	chr7:5768800-5798200	Weak transcription	Colonic Mucosa	Colon
18	chr7:5769000-5778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:5769000-5778600	Weak transcription	Fetal Brain Female	brain
20	chr7:5769000-5783800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:5769000-5785600	Weak transcription	Brain Angular Gyrus	brain
22	chr7:5769200-5778400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:5769200-5778400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:5769200-5778400	Weak transcription	NHLF	lung
25	chr7:5769200-5778600	Weak transcription	Brain Substantia Nigra	brain
26	chr7:5769200-5778800	Weak transcription	HUVEC	blood vessel
27	chr7:5769200-5779200	Weak transcription	Ovary	ovary
28	chr7:5769200-5779400	Weak transcription	Spleen	Spleen
29	chr7:5769200-5779800	Weak transcription	Aorta	Aorta
30	chr7:5769200-5780000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:5769200-5780000	Weak transcription	Thymus	Thymus
32	chr7:5769200-5780200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr7:5769200-5780200	Weak transcription	Right Ventricle	heart
34	chr7:5769200-5780600	Weak transcription	Gastric	stomach
35	chr7:5769200-5785000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr7:5769200-5790200	Weak transcription	Pancreas	Pancrea
37	chr7:5769400-5777800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:5769400-5778400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:5769400-5778400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr7:5769400-5778600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr7:5769400-5780000	Weak transcription	Colon Smooth Muscle	Colon
42	chr7:5769600-5778400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:5769600-5778400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr7:5769600-5778400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr7:5769600-5778400	Weak transcription	Fetal Heart	heart
46	chr7:5769600-5778400	Weak transcription	NH-A	brain
47	chr7:5769600-5783400	Weak transcription	Fetal Lung	lung
48	chr7:5769800-5778200	Weak transcription	Liver	Liver
49	chr7:5769800-5778400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:5769800-5778400	Weak transcription	Adipose Nuclei	Adipose

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