Variant report

Variant	rs288333
Chromosome Location	chr2:183622641-183622642
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183615250..183618246-chr2:183622533..183624342,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10167605	0.81[EUR][1000 genomes]
rs10196982	0.83[ASN][1000 genomes]
rs10497614	0.83[ASN][1000 genomes]
rs11892187	0.87[EUR][1000 genomes]
rs11892516	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13399663	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13411826	0.87[EUR][1000 genomes]
rs13414223	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13415935	0.81[EUR][1000 genomes]
rs16823660	0.91[ASN][1000 genomes]
rs1881097	0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1881098	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs288266	1.00[JPT][hapmap]
rs288277	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs288279	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs288284	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs288286	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs288297	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs288298	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs288345	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs288353	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6731059	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6751322	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7593637	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2756954	chr2:183528670-183764930	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv875483	chr2:183537399-183657867	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv3693445	chr2:183542825-183725221	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv10204	chr2:183609768-183639750	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 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	chr2:183581800-183631000	Weak transcription	Esophagus	oesophagus
2	chr2:183581800-183647600	Weak transcription	Gastric	stomach
3	chr2:183581800-183655600	Weak transcription	Pancreas	Pancrea
4	chr2:183582600-183624400	Weak transcription	Stomach Mucosa	stomach
5	chr2:183588600-183624200	Weak transcription	Small Intestine	intestine
6	chr2:183602600-183624200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:183605600-183646000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:183606000-183622800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:183606000-183624200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:183607200-183638800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:183608000-183622800	Weak transcription	Thymus	Thymus
12	chr2:183608000-183624200	Weak transcription	Fetal Stomach	stomach
13	chr2:183608000-183628200	Weak transcription	Fetal Intestine Small	intestine
14	chr2:183609000-183646600	Weak transcription	Hela-S3	cervix
15	chr2:183609600-183622800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr2:183610000-183638800	Weak transcription	Lung	lung
17	chr2:183610200-183623800	Weak transcription	Psoas Muscle	Psoas
18	chr2:183610200-183624400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:183610200-183624400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:183610200-183624400	Weak transcription	Aorta	Aorta
21	chr2:183610200-183626000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:183610200-183626600	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:183610200-183628400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:183610200-183631400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:183610200-183633200	Weak transcription	Spleen	Spleen
26	chr2:183610200-183639000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:183610400-183622800	Weak transcription	Brain Angular Gyrus	brain
28	chr2:183610800-183622800	Weak transcription	Brain Substantia Nigra	brain
29	chr2:183613200-183625000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:183613400-183624200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr2:183614400-183626400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:183614400-183626400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:183614400-183626600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:183614400-183631200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:183614400-183632200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:183614400-183632400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:183614400-183633200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:183614400-183633400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:183614400-183633400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr2:183614400-183633800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr2:183614400-183634200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:183614600-183625000	Strong transcription	Liver	Liver
43	chr2:183614600-183626400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:183614600-183627000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:183614600-183630000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:183614600-183633200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr2:183614600-183633600	Strong transcription	Fetal Intestine Large	intestine
48	chr2:183614600-183633600	Strong transcription	Dnd41	blood
49	chr2:183614600-183633800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:183614600-183634000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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