Variant report

Variant	rs62485263
Chromosome Location	chr7:138239167-138239168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10155993	0.81[ASN][1000 genomes]
rs10215281	0.81[ASN][1000 genomes]
rs10227693	0.92[ASN][1000 genomes]
rs10232771	0.85[ASN][1000 genomes]
rs10247380	0.92[ASN][1000 genomes]
rs10248731	0.91[ASN][1000 genomes]
rs10258706	0.85[ASN][1000 genomes]
rs1030961	0.87[ASN][1000 genomes]
rs1116324	0.85[ASN][1000 genomes]
rs12112459	0.91[ASN][1000 genomes]
rs12666310	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1371463	0.82[EUR][1000 genomes]
rs1421604	0.81[ASN][1000 genomes]
rs1544733	0.93[ASN][1000 genomes]
rs1614641	0.83[EUR][1000 genomes]
rs1659830	0.84[ASN][1000 genomes]
rs1659831	0.83[EUR][1000 genomes]
rs1659832	0.80[EUR][1000 genomes]
rs1673203	0.92[ASN][1000 genomes]
rs1673204	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1673205	0.85[ASN][1000 genomes]
rs1673206	0.87[ASN][1000 genomes]
rs1673207	0.81[ASN][1000 genomes]
rs1673211	0.82[EUR][1000 genomes]
rs17364560	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17461551	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1813003	0.90[ASN][1000 genomes]
rs2353354	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2353355	0.91[ASN][1000 genomes]
rs3757381	0.86[ASN][1000 genomes]
rs3778705	0.95[ASN][1000 genomes]
rs3807155	0.92[ASN][1000 genomes]
rs3807156	0.84[ASN][1000 genomes]
rs3807157	0.82[ASN][1000 genomes]
rs55723768	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs56092804	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57407834	0.87[ASN][1000 genomes]
rs58562866	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62485261	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62485264	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62487615	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62487616	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62487619	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6467776	0.81[ASN][1000 genomes]
rs6467778	0.81[ASN][1000 genomes]
rs6467780	0.87[ASN][1000 genomes]
rs6467782	0.91[ASN][1000 genomes]
rs6467783	0.91[ASN][1000 genomes]
rs6948094	0.91[ASN][1000 genomes]
rs6954285	0.91[ASN][1000 genomes]
rs6959574	0.92[ASN][1000 genomes]
rs6963539	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6970175	0.88[ASN][1000 genomes]
rs6974877	0.88[ASN][1000 genomes]
rs6978524	0.83[ASN][1000 genomes]
rs728092	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs749546	0.83[ASN][1000 genomes]
rs7795981	0.88[ASN][1000 genomes]
rs888609	0.83[ASN][1000 genomes]
rs9791462	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs985299	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138213000-138239400	Weak transcription	Right Atrium	heart
2	chr7:138213000-138244200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:138220200-138240400	Weak transcription	Psoas Muscle	Psoas
4	chr7:138221200-138241400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:138222200-138239400	Strong transcription	Fetal Thymus	thymus
6	chr7:138222400-138239400	Strong transcription	K562	blood
7	chr7:138224400-138239400	Weak transcription	Stomach Mucosa	stomach
8	chr7:138225400-138242000	Weak transcription	A549	lung
9	chr7:138227000-138241200	Weak transcription	Hela-S3	cervix
10	chr7:138228400-138239800	Strong transcription	Fetal Lung	lung
11	chr7:138228400-138252600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:138228600-138239400	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:138229200-138239400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:138231200-138240600	Weak transcription	NHLF	lung
15	chr7:138232200-138241600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:138232600-138241600	Strong transcription	HepG2	liver
17	chr7:138232800-138239600	Strong transcription	Fetal Intestine Large	intestine
18	chr7:138233800-138239400	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr7:138233800-138240400	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr7:138233800-138240400	Strong transcription	Fetal Heart	heart
21	chr7:138234000-138239600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:138234400-138240600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr7:138234600-138240600	Weak transcription	NHEK	skin
24	chr7:138234600-138243600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr7:138234800-138241000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:138234800-138241400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:138235000-138240600	Strong transcription	HUVEC	blood vessel
28	chr7:138235000-138248600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:138235000-138257400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:138235200-138239400	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr7:138235200-138240000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr7:138235200-138240600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:138235200-138240800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:138235200-138241200	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr7:138235200-138241200	Strong transcription	Stomach Smooth Muscle	stomach
36	chr7:138235200-138241600	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr7:138235400-138241400	Strong transcription	Liver	Liver
38	chr7:138235600-138239200	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:138235600-138239600	Strong transcription	Colonic Mucosa	Colon
40	chr7:138235600-138240600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:138235600-138241400	Strong transcription	Brain Hippocampus Middle	brain
42	chr7:138235600-138245200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:138235800-138239600	Strong transcription	Fetal Brain Female	brain
44	chr7:138235800-138239600	Strong transcription	Osteobl	bone
45	chr7:138235800-138239800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
46	chr7:138235800-138240000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:138235800-138240600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:138235800-138240600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr7:138235800-138240600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:138235800-138240600	Strong transcription	HSMM	muscle

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