Variant report

Variant	rs7617715
Chromosome Location	chr3:42950181-42950182
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10470680	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11129987	0.82[EUR][1000 genomes]
rs11129988	0.82[EUR][1000 genomes]
rs1346414	0.81[EUR][1000 genomes]
rs1346415	0.80[EUR][1000 genomes]
rs1392319	1.00[ASN][1000 genomes]
rs1403525	1.00[ASN][1000 genomes]
rs17074894	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17238972	1.00[ASN][1000 genomes]
rs1816227	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28378297	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28601753	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28655956	1.00[ASN][1000 genomes]
rs28673478	1.00[ASN][1000 genomes]
rs3915020	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs489117	1.00[ASN][1000 genomes]
rs526511	0.80[EUR][1000 genomes]
rs530842	1.00[ASN][1000 genomes]
rs534284	1.00[ASN][1000 genomes]
rs542394	0.81[EUR][1000 genomes]
rs545023	0.81[EUR][1000 genomes]
rs551658	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs604393	1.00[ASN][1000 genomes]
rs60616619	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61004728	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs617014	1.00[ASN][1000 genomes]
rs62248962	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249006	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249007	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249008	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249009	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249011	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249013	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249014	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249015	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62249016	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249584	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs638602	0.80[EUR][1000 genomes]
rs649682	0.80[EUR][1000 genomes]
rs651899	1.00[ASN][1000 genomes]
rs6763762	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6773223	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6775999	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs678310	1.00[ASN][1000 genomes]
rs6798412	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6798520	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs680967	1.00[ASN][1000 genomes]
rs681341	1.00[ASN][1000 genomes]
rs6865	1.00[ASN][1000 genomes]
rs73075297	1.00[ASN][1000 genomes]
rs73075301	1.00[ASN][1000 genomes]
rs73077208	1.00[ASN][1000 genomes]
rs73077214	1.00[ASN][1000 genomes]
rs73077238	1.00[ASN][1000 genomes]
rs73087348	1.00[ASN][1000 genomes]
rs735320	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73832423	1.00[ASN][1000 genomes]
rs73832424	1.00[ASN][1000 genomes]
rs7641452	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7644923	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs834183	0.80[EUR][1000 genomes]
rs834579	0.82[EUR][1000 genomes]
rs834584	0.80[EUR][1000 genomes]
rs834699	0.80[EUR][1000 genomes]
rs9311330	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9311331	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808932	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9815609	1.00[ASN][1000 genomes]
rs9816391	1.00[ASN][1000 genomes]
rs9824700	1.00[ASN][1000 genomes]
rs9828785	1.00[ASN][1000 genomes]
rs9832875	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9833284	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9837761	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9840349	1.00[ASN][1000 genomes]
rs9852930	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9858270	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9862469	1.00[ASN][1000 genomes]
rs9870478	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3783	chr3:42926223-42970597	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42948400-42954600	Weak transcription	NH-A	brain
2	chr3:42948600-42951000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:42948600-42951000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:42948600-42951800	Weak transcription	Fetal Kidney	kidney
5	chr3:42948600-42952000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:42948600-42952200	Weak transcription	Psoas Muscle	Psoas
7	chr3:42948600-42952200	Weak transcription	Osteobl	bone
8	chr3:42948600-42954200	Weak transcription	Small Intestine	intestine
9	chr3:42948600-42955200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr3:42948600-42955600	Weak transcription	NHDF-Ad	bronchial
11	chr3:42948800-42951800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:42948800-42952000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:42948800-42952000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:42948800-42952000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr3:42948800-42952200	Weak transcription	Gastric	stomach
16	chr3:42948800-42954600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr3:42948800-42954600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:42949000-42950200	Weak transcription	Colonic Mucosa	Colon
19	chr3:42949000-42951000	Weak transcription	Spleen	Spleen
20	chr3:42949000-42951200	Weak transcription	Pancreas	Pancrea
21	chr3:42949000-42951400	Weak transcription	Brain Anterior Caudate	brain
22	chr3:42949000-42951600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:42949000-42951800	Weak transcription	Left Ventricle	heart
24	chr3:42949000-42952000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr3:42949000-42952000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr3:42949000-42952400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:42949000-42954400	Weak transcription	Stomach Mucosa	stomach
28	chr3:42949000-42954600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:42949200-42950400	Strong transcription	Fetal Lung	lung
30	chr3:42949200-42950600	Strong transcription	Fetal Stomach	stomach
31	chr3:42949200-42951600	Weak transcription	NHEK	skin
32	chr3:42949200-42952000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr3:42949200-42952000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr3:42949200-42952000	Weak transcription	Fetal Heart	heart
35	chr3:42949200-42955000	Weak transcription	Brain Substantia Nigra	brain
36	chr3:42949400-42950200	ZNF genes & repeats	Fetal Muscle Leg	muscle
37	chr3:42949400-42950800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr3:42949400-42953000	Strong transcription	Fetal Muscle Trunk	muscle
39	chr3:42949400-42953000	ZNF genes & repeats	Lung	lung
40	chr3:42949600-42950200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
41	chr3:42949600-42950200	ZNF genes & repeats	Liver	Liver
42	chr3:42949600-42950400	Strong transcription	Brain Angular Gyrus	brain
43	chr3:42949600-42950400	Strong transcription	Colon Smooth Muscle	Colon
44	chr3:42949600-42950400	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:42949600-42950600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr3:42949600-42950600	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr3:42949600-42950600	Strong transcription	Fetal Intestine Large	intestine
48	chr3:42949600-42950600	Strong transcription	Placenta	Placenta
49	chr3:42949600-42951000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr3:42949600-42951200	Weak transcription	Right Ventricle	heart

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