Variant report

Variant	rs3980405
Chromosome Location	chr2:64226351-64226352
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64225373..64227940-chr2:64228601..64231174,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10171008	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10207847	0.90[EUR][1000 genomes]
rs11125986	0.92[EUR][1000 genomes]
rs12611543	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12612549	0.82[EUR][1000 genomes]
rs12615049	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1362797	0.92[EUR][1000 genomes]
rs1440004	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2080649	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2164735	0.89[ASN][1000 genomes]
rs2165210	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2302809	0.91[EUR][1000 genomes]
rs2901636	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs329477	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs329483	0.89[ASN][1000 genomes]
rs329486	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6546038	0.86[EUR][1000 genomes]
rs6546039	0.90[EUR][1000 genomes]
rs6546040	0.85[EUR][1000 genomes]
rs6546042	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6546043	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6546046	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6705192	0.91[EUR][1000 genomes]
rs6716322	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6716558	0.84[EUR][1000 genomes]
rs6724024	0.84[ASN][1000 genomes]
rs6727120	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6736556	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6746875	0.94[EUR][1000 genomes]
rs6757168	0.83[ASN][1000 genomes]
rs7420396	0.82[ASN][1000 genomes]
rs7560265	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7589241	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7596262	0.89[EUR][1000 genomes]
rs7602952	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7608885	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv2763643	chr2:64219887-64281337	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr2:64154800-64242600	Weak transcription	Aorta	Aorta
2	chr2:64176000-64228000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:64185800-64245000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:64194000-64243200	Weak transcription	NHLF	lung
5	chr2:64198600-64228000	Weak transcription	Right Ventricle	heart
6	chr2:64202800-64232400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:64203200-64228400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:64203400-64228000	Weak transcription	Ovary	ovary
9	chr2:64204200-64227600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:64205600-64228000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:64209000-64229200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:64209400-64244800	Weak transcription	HSMM	muscle
13	chr2:64210200-64243000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:64212800-64228400	Weak transcription	NHEK	skin
15	chr2:64213800-64244600	Weak transcription	HUVEC	blood vessel
16	chr2:64217200-64227800	Weak transcription	Left Ventricle	heart
17	chr2:64219200-64227800	Weak transcription	Fetal Stomach	stomach
18	chr2:64219200-64237000	Weak transcription	Placenta	Placenta
19	chr2:64219400-64238400	Weak transcription	Gastric	stomach
20	chr2:64221000-64228000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:64221400-64228600	Weak transcription	Thymus	Thymus
22	chr2:64222400-64228600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:64222400-64230800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:64222400-64242600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:64222400-64243000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:64222600-64228800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:64223600-64235600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:64224000-64227200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:64224800-64232600	Weak transcription	A549	lung
30	chr2:64224800-64233000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:64225200-64227600	Weak transcription	Fetal Lung	lung
32	chr2:64225400-64228000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:64225400-64242200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:64225800-64227400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr2:64225800-64227800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:64225800-64228000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:64225800-64230400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr2:64225800-64237000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:64225800-64242600	Weak transcription	Fetal Kidney	kidney
40	chr2:64226000-64226400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:64226000-64227800	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr2:64226000-64228800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:64226000-64243000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr2:64226000-64245000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr2:64226200-64226400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:64226200-64226400	Enhancers	Esophagus	oesophagus
47	chr2:64226200-64227600	Weak transcription	HepG2	liver
48	chr2:64226200-64231400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:64226200-64245000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:64226200-64245000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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