Variant report

Variant	rs16823916
Chromosome Location	chr2:183860834-183860835
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183860715..183863358-chr2:183901045..183903186,2	K562	blood:
2	chr2:183854085..183855946-chr2:183859606..183862117,2	K562	blood:
3	chr2:183858833..183861882-chr2:183868102..183871099,4	K562	blood:
4	chr2:183858969..183864353-chr2:183866249..183870537,6	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10177344	0.88[CHB][hapmap]
rs10187800	0.88[CHB][hapmap]
rs10497618	0.88[CHB][hapmap]
rs13399354	0.88[CHB][hapmap]
rs1400132	0.80[CEU][hapmap]
rs16823717	0.80[CEU][hapmap];0.83[MKK][hapmap]
rs16823721	0.80[CEU][hapmap];0.83[MKK][hapmap]
rs16823924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16823974	0.80[CEU][hapmap]
rs16824001	0.80[CEU][hapmap]
rs16824018	0.80[CEU][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap]
rs16824033	0.80[CEU][hapmap]
rs2176232	0.80[CEU][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap]
rs2368352	0.88[CHB][hapmap]
rs2368372	1.00[AFR][1000 genomes]
rs2675114	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2675115	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3791247	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3817313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57203160	0.86[EUR][1000 genomes]
rs60969946	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709841	0.81[EUR][1000 genomes]
rs72888404	1.00[ASN][1000 genomes]
rs7510	0.88[CHB][hapmap]
rs9333279	0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183773400-183866000	Weak transcription	Colonic Mucosa	Colon
2	chr2:183773400-183877800	Weak transcription	Stomach Mucosa	stomach
3	chr2:183780400-183874800	Weak transcription	Esophagus	oesophagus
4	chr2:183805600-183874400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:183812200-183874800	Weak transcription	Gastric	stomach
6	chr2:183814600-183874800	Weak transcription	Aorta	Aorta
7	chr2:183814600-183893600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:183827200-183874400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:183833600-183864400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:183833600-183874800	Weak transcription	Brain Substantia Nigra	brain
11	chr2:183833600-183874800	Weak transcription	Pancreas	Pancrea
12	chr2:183833600-183878400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:183833600-183879600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:183836400-183863400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:183836600-183867800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:183837000-183863400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:183837000-183866600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:183837800-183866400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:183838400-183867000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:183838600-183865600	Weak transcription	Small Intestine	intestine
21	chr2:183839600-183864400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:183839800-183868400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:183840800-183864200	Weak transcription	Fetal Brain Female	brain
24	chr2:183841200-183861000	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr2:183841600-183868200	Strong transcription	HSMM	muscle
26	chr2:183842400-183874800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:183842600-183868800	Weak transcription	Right Ventricle	heart
28	chr2:183845200-183867600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:183846000-183869800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:183846000-183902000	Weak transcription	Lung	lung
31	chr2:183846600-183861200	Weak transcription	Left Ventricle	heart
32	chr2:183847200-183867000	Strong transcription	HepG2	liver
33	chr2:183848000-183864600	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:183848000-183866600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:183852200-183863000	Strong transcription	Liver	Liver
36	chr2:183852600-183874400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:183853000-183874800	Weak transcription	Brain Angular Gyrus	brain
38	chr2:183853200-183865000	Weak transcription	Fetal Heart	heart
39	chr2:183853200-183874800	Weak transcription	Right Atrium	heart
40	chr2:183854000-183898800	Weak transcription	Fetal Brain Male	brain
41	chr2:183854800-183862600	Strong transcription	HUVEC	blood vessel
42	chr2:183854800-183865400	Weak transcription	Fetal Intestine Small	intestine
43	chr2:183855000-183862600	Strong transcription	NH-A	brain
44	chr2:183855400-183866600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:183855400-183866800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr2:183855400-183868200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:183855600-183863000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:183855600-183874800	Weak transcription	Hela-S3	cervix
49	chr2:183856400-183863000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:183856400-183863200	Weak transcription	Fetal Stomach	stomach

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