Variant report

Variant	rs2072419
Chromosome Location	chr2:37874195-37874196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1013291	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1013292	0.90[ASN][1000 genomes]
rs10694	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11124594	0.81[ASN][1000 genomes]
rs11124595	0.81[ASN][1000 genomes]
rs11883958	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12622958	0.87[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13387842	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13392288	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13406302	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13417833	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13417957	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1468663	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1468664	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17021174	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2041508	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2079998	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2098198	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2109821	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2109822	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2159726	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2191841	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2373290	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2373292	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3731852	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3731854	0.96[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs4372883	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4594425	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4670210	0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs4670211	0.83[ASN][1000 genomes]
rs4670748	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs56809883	0.83[ASN][1000 genomes]
rs6544095	0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs67084656	0.81[ASN][1000 genomes]
rs6709067	0.81[ASN][1000 genomes]
rs6711909	0.96[CHB][hapmap];0.86[ASN][1000 genomes]
rs6722589	0.84[ASN][1000 genomes]
rs6740127	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6752119	0.96[CHB][hapmap];0.85[ASN][1000 genomes]
rs6752220	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6752762	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6759224	0.83[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7607934	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs7735	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9742	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][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	esv2757793	chr2:37796654-38138939	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2759043	chr2:37796654-38138939	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv833825	chr2:37808169-37985917	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv535645	chr2:37853282-37972640	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv535646	chr2:37853282-38014428	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv873880	chr2:37868214-37926046	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37853600-37897400	Weak transcription	Small Intestine	intestine
2	chr2:37860800-37879600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:37863400-37875000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:37864200-37880200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:37864400-37879400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:37866600-37875200	Genic enhancers	HSMM	muscle
7	chr2:37866800-37875000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:37866800-37881000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:37867000-37880600	Genic enhancers	Muscle Satellite Cultured Cells	--
10	chr2:37867200-37875000	Genic enhancers	NHDF-Ad	bronchial
11	chr2:37867400-37874800	Weak transcription	Fetal Intestine Small	intestine
12	chr2:37868000-37875200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:37868000-37876200	Genic enhancers	Osteobl	bone
14	chr2:37868200-37876200	Genic enhancers	NH-A	brain
15	chr2:37868600-37875400	Weak transcription	Fetal Intestine Large	intestine
16	chr2:37868600-37879800	Genic enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:37868800-37874600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
18	chr2:37869400-37876200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:37869800-37875600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:37870000-37874800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:37870000-37875400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr2:37870200-37874400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:37870200-37875200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:37870200-37875400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:37870600-37874400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:37870800-37878600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:37871200-37875200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:37871200-37875800	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr2:37871400-37874200	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:37871400-37874200	Genic enhancers	NHEK	skin
31	chr2:37871400-37874600	Genic enhancers	Primary T cells from cord blood	blood
32	chr2:37871400-37874800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:37871400-37875200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:37871400-37875600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:37871400-37880600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:37871600-37874800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:37871800-37875400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr2:37872000-37874200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:37872000-37874200	Strong transcription	HSMMtube	muscle
40	chr2:37872000-37874200	Strong transcription	NHLF	lung
41	chr2:37872000-37875000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr2:37872000-37875000	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:37872000-37875000	Genic enhancers	Monocytes-CD14+_RO01746	blood
44	chr2:37872000-37892400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr2:37872200-37874600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr2:37872200-37875000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:37872200-37875200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:37872200-37875400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:37872200-37881800	Weak transcription	Fetal Kidney	kidney
50	chr2:37872400-37880800	Weak transcription	Fetal Brain Male	brain

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