Variant report

Variant	rs6733495
Chromosome Location	chr2:233616709-233616710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10210953	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1022329	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10427328	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1078323	0.96[CEU][hapmap]
rs1083522	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs10933406	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1104764	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11535	0.96[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs11688166	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs11689851	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs11893358	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12105766	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12619195	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12999865	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13007579	0.93[CEU][hapmap]
rs13024330	0.92[CEU][hapmap]
rs13029336	0.83[JPT][hapmap]
rs1515961	0.83[JPT][hapmap]
rs17164	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs1973675	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2012423	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2289911	0.93[CEU][hapmap]
rs2293780	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2344611	0.86[EUR][1000 genomes]
rs2344613	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs2592104	0.84[EUR][1000 genomes]
rs2675954	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2675968	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs283470	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs283473	0.83[JPT][hapmap]
rs283487	0.85[EUR][1000 genomes]
rs4144795	0.81[EUR][1000 genomes]
rs4144797	0.80[EUR][1000 genomes]
rs4973563	0.93[CEU][hapmap]
rs4973564	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs62193269	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62193271	0.85[EUR][1000 genomes]
rs6704763	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6710294	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6716488	0.87[EUR][1000 genomes]
rs6717048	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6739794	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs709937	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs737027	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs748002	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs778341	0.95[YRI][hapmap]
rs778370	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs921055	0.92[CEU][hapmap]
rs938569	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs974321	0.85[EUR][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	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233565600-233641000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:233571200-233627400	Weak transcription	Gastric	stomach
3	chr2:233585200-233655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:233585800-233626000	Weak transcription	Fetal Heart	heart
5	chr2:233587000-233630600	Weak transcription	Psoas Muscle	Psoas
6	chr2:233589600-233619800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:233589600-233627000	Weak transcription	Pancreas	Pancrea
8	chr2:233597200-233627000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:233602400-233621800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:233602400-233633200	Weak transcription	Aorta	Aorta
11	chr2:233603000-233621200	Weak transcription	Esophagus	oesophagus
12	chr2:233606200-233638400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:233606800-233633200	Weak transcription	Stomach Mucosa	stomach
14	chr2:233606800-233636800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:233609200-233630800	Strong transcription	HepG2	liver
16	chr2:233611000-233628600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:233611400-233618600	Strong transcription	HUVEC	blood vessel
18	chr2:233611400-233623800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:233611600-233623600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:233611600-233645600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr2:233611800-233617200	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr2:233611800-233620600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:233611800-233622600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:233611800-233623000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:233612000-233617000	Strong transcription	NHLF	lung
26	chr2:233612000-233617200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:233612000-233617200	Strong transcription	Primary hematopoietic stem cells	blood
28	chr2:233612000-233617200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:233612000-233617400	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr2:233612000-233617600	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr2:233612000-233618400	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:233612000-233618400	Strong transcription	Dnd41	blood
33	chr2:233612000-233618600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr2:233612000-233619200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:233612000-233621400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:233612000-233621600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:233612000-233621800	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:233612000-233622400	Strong transcription	Primary B cells from cord blood	blood
39	chr2:233612000-233622400	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr2:233612000-233623000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:233612000-233631000	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:233612000-233634000	Strong transcription	Primary B cells from peripheral blood	blood
43	chr2:233612000-233634000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:233612000-233640000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:233612000-233644600	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr2:233612200-233617200	Strong transcription	Adipose Nuclei	Adipose
47	chr2:233612200-233617200	Strong transcription	Colon Smooth Muscle	Colon
48	chr2:233612200-233617200	Strong transcription	Osteobl	bone
49	chr2:233612200-233618600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:233612200-233618600	Strong transcription	Fetal Muscle Leg	muscle

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