Variant report

Variant	rs6716322
Chromosome Location	chr2:64219311-64219312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10171008	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10207847	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11125986	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12464534	0.82[ASN][1000 genomes]
rs12611543	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12612549	0.83[EUR][1000 genomes]
rs12615049	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1362797	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1440004	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2080649	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2165210	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2302809	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2901636	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs329477	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs329486	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs329487	0.80[AFR][1000 genomes]
rs3980405	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6546038	0.87[EUR][1000 genomes]
rs6546039	0.91[EUR][1000 genomes]
rs6546040	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6546042	0.83[ASN][1000 genomes]
rs6546043	0.85[ASN][1000 genomes]
rs6546046	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6705192	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6716558	0.85[EUR][1000 genomes]
rs6724024	0.94[ASN][1000 genomes]
rs6727120	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6736556	0.83[ASN][1000 genomes]
rs6746875	0.94[EUR][1000 genomes]
rs6755041	0.82[ASN][1000 genomes]
rs6757168	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7420396	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7560265	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7589241	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7596262	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7602952	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7608885	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002209	chr2:64160385-64238475	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64139800-64220600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:64154800-64242600	Weak transcription	Aorta	Aorta
3	chr2:64176000-64228000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:64185800-64245000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:64194000-64243200	Weak transcription	NHLF	lung
6	chr2:64198600-64228000	Weak transcription	Right Ventricle	heart
7	chr2:64202800-64232400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:64203200-64228400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:64203400-64228000	Weak transcription	Ovary	ovary
10	chr2:64203600-64221400	Weak transcription	HMEC	breast
11	chr2:64204200-64227600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:64205600-64220800	Weak transcription	Thymus	Thymus
13	chr2:64205600-64228000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:64209000-64229200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:64209200-64219400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:64209400-64244800	Weak transcription	HSMM	muscle
17	chr2:64210200-64220400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:64210200-64221200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:64210200-64222000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:64210200-64243000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:64212600-64222200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:64212800-64228400	Weak transcription	NHEK	skin
23	chr2:64213000-64224200	Weak transcription	A549	lung
24	chr2:64213600-64222600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:64213800-64244600	Weak transcription	HUVEC	blood vessel
26	chr2:64216000-64222600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:64216400-64219600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:64217200-64227800	Weak transcription	Left Ventricle	heart
29	chr2:64217400-64220600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr2:64217400-64221000	Weak transcription	Primary T cells from cord blood	blood
31	chr2:64217400-64221000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:64217600-64220400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:64217600-64222000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:64217800-64224000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr2:64217800-64224200	Weak transcription	Fetal Lung	lung
36	chr2:64217800-64225400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:64218000-64220200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr2:64218000-64220600	Weak transcription	Dnd41	blood
39	chr2:64218400-64219400	Enhancers	Liver	Liver
40	chr2:64218600-64219400	Enhancers	Pancreas	Pancrea
41	chr2:64218600-64221600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:64218800-64219400	Enhancers	Gastric	stomach
43	chr2:64218800-64219400	Enhancers	Lung	lung
44	chr2:64218800-64224000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:64219200-64219400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr2:64219200-64220200	Enhancers	HepG2	liver
47	chr2:64219200-64221200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:64219200-64224200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr2:64219200-64227800	Weak transcription	Fetal Stomach	stomach
50	chr2:64219200-64237000	Weak transcription	Placenta	Placenta

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