Variant report

Variant	rs73924969
Chromosome Location	chr2:37262316-37262317
allele	A/T
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:47)

rs_ID	r²[population]
rs1015599	1.00[EUR][1000 genomes]
rs1019311	1.00[EUR][1000 genomes]
rs11892892	1.00[EUR][1000 genomes]
rs11896317	1.00[EUR][1000 genomes]
rs2110943	1.00[EUR][1000 genomes]
rs2160378	1.00[EUR][1000 genomes]
rs2247610	1.00[EUR][1000 genomes]
rs2540921	1.00[EUR][1000 genomes]
rs2540927	1.00[EUR][1000 genomes]
rs2540928	1.00[EUR][1000 genomes]
rs2540932	1.00[EUR][1000 genomes]
rs2540935	1.00[EUR][1000 genomes]
rs2540938	1.00[EUR][1000 genomes]
rs2541003	1.00[EUR][1000 genomes]
rs2541005	1.00[EUR][1000 genomes]
rs2691103	1.00[EUR][1000 genomes]
rs2691108	1.00[EUR][1000 genomes]
rs2691113	1.00[EUR][1000 genomes]
rs2691117	1.00[EUR][1000 genomes]
rs2691121	1.00[EUR][1000 genomes]
rs2706810	1.00[EUR][1000 genomes]
rs2706812	1.00[EUR][1000 genomes]
rs2706816	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717498	1.00[EUR][1000 genomes]
rs2717499	1.00[EUR][1000 genomes]
rs2717502	1.00[EUR][1000 genomes]
rs2717504	1.00[EUR][1000 genomes]
rs2717506	1.00[EUR][1000 genomes]
rs2717513	1.00[EUR][1000 genomes]
rs2717514	1.00[EUR][1000 genomes]
rs2717515	1.00[EUR][1000 genomes]
rs2717517	1.00[EUR][1000 genomes]
rs2717521	1.00[EUR][1000 genomes]
rs2949393	1.00[EUR][1000 genomes]
rs61085492	1.00[EUR][1000 genomes]
rs61561618	1.00[EUR][1000 genomes]
rs6708710	1.00[EUR][1000 genomes]
rs6734109	1.00[EUR][1000 genomes]
rs6738016	1.00[EUR][1000 genomes]
rs6750356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6758058	1.00[EUR][1000 genomes]
rs723674	1.00[EUR][1000 genomes]
rs73924930	1.00[EUR][1000 genomes]
rs73924971	1.00[EUR][1000 genomes]
rs73924989	1.00[EUR][1000 genomes]
rs7593630	1.00[EUR][1000 genomes]
rs964853	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv873879	chr2:37200033-37299145	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv581472	chr2:37235324-37291320	Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1820206	chr2:37236821-37277811	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37209000-37290200	Weak transcription	Small Intestine	intestine
2	chr2:37221000-37307600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:37223400-37282600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:37223400-37300400	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr2:37224000-37270600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:37228600-37267000	Weak transcription	Stomach Mucosa	stomach
7	chr2:37240400-37304800	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:37240600-37306000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:37240800-37281800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:37240800-37306400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:37240800-37307000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:37241000-37272600	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:37241200-37306000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr2:37241400-37299600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr2:37242000-37287000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:37242200-37265800	Strong transcription	Liver	Liver
17	chr2:37242200-37305800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:37246200-37283000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:37246800-37279800	Weak transcription	Pancreas	Pancrea
20	chr2:37247000-37279200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:37248600-37263200	Weak transcription	Hela-S3	cervix
22	chr2:37248600-37263200	Weak transcription	HUVEC	blood vessel
23	chr2:37248800-37263800	Strong transcription	Adipose Nuclei	Adipose
24	chr2:37248800-37266800	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:37248800-37279200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:37248800-37290200	Weak transcription	Psoas Muscle	Psoas
27	chr2:37249000-37266600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:37249000-37277400	Weak transcription	NHLF	lung
29	chr2:37249000-37291800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr2:37249000-37291800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:37250800-37268600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:37252000-37279400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr2:37253400-37279400	Weak transcription	NHEK	skin
34	chr2:37253600-37278800	Weak transcription	Right Ventricle	heart
35	chr2:37253800-37264800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr2:37253800-37265000	Weak transcription	Thymus	Thymus
37	chr2:37253800-37268600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:37253800-37289600	Weak transcription	Spleen	Spleen
39	chr2:37253800-37291000	Weak transcription	Aorta	Aorta
40	chr2:37253800-37310200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:37254000-37265000	Weak transcription	Lung	lung
42	chr2:37254000-37267400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:37254000-37279400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:37254200-37277000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:37254800-37279200	Weak transcription	A549	lung
46	chr2:37255000-37267000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:37255200-37262400	Weak transcription	NH-A	brain
48	chr2:37255200-37263000	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:37255200-37266800	Weak transcription	HMEC	breast
50	chr2:37255200-37267200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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