Variant report

Variant	rs852465
Chromosome Location	chr7:5685254-5685255
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 136 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10225845	0.89[EUR][1000 genomes]
rs10271741	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10807950	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10951961	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11763027	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1628786	1.00[AMR][1000 genomes]
rs1640231	0.89[ASN][1000 genomes]
rs1725186	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1725187	1.00[ASN][1000 genomes]
rs1990835	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2008418	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2008425	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2112008	0.94[ASN][1000 genomes]
rs2161012	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2161017	0.83[AMR][1000 genomes]
rs2345665	0.83[AMR][1000 genomes]
rs2345863	0.81[ASN][1000 genomes]
rs2345864	0.94[ASN][1000 genomes]
rs2693951	1.00[AMR][1000 genomes]
rs2881234	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28874635	0.81[ASN][1000 genomes]
rs2908430	1.00[ASN][1000 genomes]
rs3735288	1.00[ASN][1000 genomes]
rs3857756	0.82[ASN][1000 genomes]
rs3943984	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4720636	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4720639	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4720645	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4724714	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4724716	0.94[ASN][1000 genomes]
rs4724720	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4724721	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4724723	0.94[ASN][1000 genomes]
rs4724727	0.81[ASN][1000 genomes]
rs4724732	0.81[ASN][1000 genomes]
rs4724734	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62455878	0.81[ASN][1000 genomes]
rs6463508	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6463515	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs66467570	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6944453	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6945676	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6947405	0.94[ASN][1000 genomes]
rs6953412	0.83[AMR][1000 genomes]
rs6956990	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6957150	0.83[AMR][1000 genomes]
rs6969486	0.81[ASN][1000 genomes]
rs710939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs710940	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs710942	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7784394	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7790499	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7792177	0.83[AMR][1000 genomes]
rs7794571	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7809914	0.81[ASN][1000 genomes]
rs852260	0.83[AMR][1000 genomes]
rs852261	0.94[ASN][1000 genomes]
rs852262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852377	0.83[AMR][1000 genomes]
rs852378	1.00[ASN][1000 genomes]
rs852381	1.00[AMR][1000 genomes]
rs852383	1.00[AMR][1000 genomes]
rs852393	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852395	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852401	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs852403	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852405	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs852408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852411	0.94[ASN][1000 genomes]
rs852412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852414	0.94[ASN][1000 genomes]
rs852416	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852418	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852437	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852438	1.00[ASN][1000 genomes]
rs852439	1.00[ASN][1000 genomes]
rs852440	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852442	1.00[ASN][1000 genomes]
rs852443	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852449	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852451	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852455	1.00[ASN][1000 genomes]
rs852458	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852459	1.00[ASN][1000 genomes]
rs852460	1.00[ASN][1000 genomes]
rs852462	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852466	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852467	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852469	1.00[ASN][1000 genomes]
rs852471	1.00[ASN][1000 genomes]
rs852474	0.94[ASN][1000 genomes]
rs852475	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852477	1.00[ASN][1000 genomes]
rs852480	1.00[AMR][1000 genomes]
rs852487	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852490	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852495	1.00[AMR][1000 genomes]
rs852509	0.85[AMR][1000 genomes]
rs852514	1.00[ASN][1000 genomes]
rs852515	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs852518	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852521	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852536	1.00[AMR][1000 genomes]
rs852541	1.00[AMR][1000 genomes]
rs852543	1.00[AMR][1000 genomes]
rs852544	1.00[AMR][1000 genomes]
rs941016	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
7	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
8	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
9	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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
16	nsv1034883	chr7:5651680-5696147	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv887417	chr7:5667645-5760860	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
18	nsv887418	chr7:5675305-5772551	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5660600-5693800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:5674600-5688800	Weak transcription	Aorta	Aorta
3	chr7:5674800-5693600	Strong transcription	Dnd41	blood
4	chr7:5674800-5728200	Weak transcription	Small Intestine	intestine
5	chr7:5675000-5688000	Strong transcription	Primary B cells from peripheral blood	blood
6	chr7:5675400-5689400	Weak transcription	Psoas Muscle	Psoas
7	chr7:5676000-5693800	Strong transcription	Fetal Intestine Small	intestine
8	chr7:5676200-5689000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:5677000-5689200	Weak transcription	Ovary	ovary
10	chr7:5677000-5693400	Weak transcription	Right Atrium	heart
11	chr7:5677000-5701400	Weak transcription	Fetal Brain Male	brain
12	chr7:5677200-5689000	Weak transcription	Fetal Kidney	kidney
13	chr7:5677200-5689200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:5677200-5690600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr7:5677200-5707200	Weak transcription	Stomach Mucosa	stomach
16	chr7:5677400-5686400	Weak transcription	NHDF-Ad	bronchial
17	chr7:5677400-5687600	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr7:5677400-5689000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:5677400-5689200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:5677400-5689400	Weak transcription	Brain Substantia Nigra	brain
21	chr7:5677400-5690000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr7:5677400-5706200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:5677600-5689000	Weak transcription	Brain Angular Gyrus	brain
24	chr7:5677600-5689000	Weak transcription	NHLF	lung
25	chr7:5677600-5691800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:5677600-5693600	Strong transcription	Stomach Smooth Muscle	stomach
27	chr7:5677600-5694000	Strong transcription	Fetal Stomach	stomach
28	chr7:5677800-5689000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:5677800-5689000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:5677800-5689000	Weak transcription	Pancreas	Pancrea
31	chr7:5678200-5688800	Weak transcription	Right Ventricle	heart
32	chr7:5679000-5688400	Weak transcription	Fetal Lung	lung
33	chr7:5679000-5689200	Weak transcription	Gastric	stomach
34	chr7:5679200-5706000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:5679400-5701600	Weak transcription	Fetal Heart	heart
36	chr7:5679800-5686400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:5679800-5692800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:5680200-5688400	Weak transcription	Brain Germinal Matrix	brain
39	chr7:5680400-5689000	Weak transcription	Esophagus	oesophagus
40	chr7:5680800-5688600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr7:5681000-5688600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr7:5681200-5689000	Weak transcription	K562	blood
43	chr7:5681400-5686000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:5682200-5686000	Strong transcription	HSMM	muscle
45	chr7:5682200-5686400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr7:5682200-5687600	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:5682400-5692800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:5682600-5688600	Weak transcription	Fetal Brain Female	brain
49	chr7:5683200-5685600	Weak transcription	A549	lung
50	chr7:5683200-5685800	Strong transcription	Fetal Muscle Trunk	muscle

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