Variant report

Variant	rs2067498
Chromosome Location	chr5:95420784-95420785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10056771	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10079268	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10085034	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.97[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11740207	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11949461	0.97[AFR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11951463	0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs11956456	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11960219	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13155375	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13172783	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13186419	0.95[AFR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4077350	0.91[EUR][1000 genomes]
rs4128178	0.81[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4270717	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4367316	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4416625	0.81[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4479864	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4513721	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4869256	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs4869258	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4869259	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4869260	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4869264	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4869266	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4998057	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6556899	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs66683317	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6866723	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6873504	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6879658	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6879847	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6884999	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6886983	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6889697	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6894768	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6895121	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6895146	0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7341111	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7700425	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7702346	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7702646	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710337	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7715650	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7717351	0.87[ASN][1000 genomes]
rs7734224	0.96[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7734985	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9314164	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9314165	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv823146	chr5:95300912-95453557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	esv2757121	chr5:95304236-95539536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	esv34203	chr5:95310985-95452324	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv522097	chr5:95347786-95425199	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv522465	chr5:95347786-95425199	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95402600-95423800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:95412000-95420800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:95415400-95429000	Weak transcription	HSMMtube	muscle
4	chr5:95416600-95421600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:95416800-95426600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:95417000-95429200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:95417200-95429000	Weak transcription	Left Ventricle	heart
8	chr5:95418000-95421000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:95418000-95421400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:95418000-95421600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:95418000-95425800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:95418200-95421400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:95418200-95430800	Weak transcription	Esophagus	oesophagus
14	chr5:95418400-95421000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr5:95418800-95420800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr5:95418800-95421600	Enhancers	NHDF-Ad	bronchial
17	chr5:95419000-95421600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:95419000-95421600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:95419200-95437400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:95419400-95420800	Weak transcription	Osteobl	bone
21	chr5:95419600-95421000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:95419600-95421200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:95419600-95421400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr5:95419600-95423600	Weak transcription	HSMM	muscle
25	chr5:95419600-95424000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr5:95419600-95424000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:95419800-95421000	Enhancers	Primary hematopoietic stem cells	blood
28	chr5:95419800-95421200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:95419800-95421600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:95420000-95420800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr5:95420000-95421600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:95420200-95420800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:95420200-95421000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:95420200-95421600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr5:95420200-95421600	Enhancers	A549	lung
36	chr5:95420400-95421600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr5:95420400-95421600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:95420400-95421600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:95420400-95421600	Enhancers	Pancreas	Pancrea
40	chr5:95420400-95421600	Enhancers	Stomach Mucosa	stomach
41	chr5:95420400-95421600	Enhancers	HepG2	liver
42	chr5:95420400-95421600	Enhancers	HMEC	breast
43	chr5:95420400-95421600	Enhancers	NHEK	skin
44	chr5:95420400-95426000	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr5:95420600-95420800	Enhancers	Fetal Intestine Large	intestine
46	chr5:95420600-95420800	Flanking Active TSS	Hela-S3	cervix

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