Variant report

Variant	rs4826
Chromosome Location	chr2:96850885-96850886
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:96849954..96852310-chr2:96867571..96870089,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11551400	0.89[CEU][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs11886999	0.84[CEU][hapmap]
rs12613263	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12617019	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12618133	0.94[CEU][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17119615	0.87[GIH][hapmap]
rs2276650	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3852673	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4371393	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4592891	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57476471	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59082429	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59664047	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60409279	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152972	1.00[ASN][1000 genomes]
rs62153010	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62153011	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62153014	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62153018	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62153020	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62153022	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62153029	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6576968	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.96[TSI][hapmap];0.95[ASN][1000 genomes]
rs6756208	0.98[ASN][1000 genomes]
rs72825854	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825856	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825864	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825877	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73958180	1.00[ASN][1000 genomes]
rs7579709	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7580178	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs997547	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.96[TSI][hapmap];1.00[ASN][1000 genomes]
rs997548	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[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	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3435047	chr2:96836850-96890437	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv834305	chr2:96848898-97019476	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4826	CIAO1	Cis_1M	lymphoblastoid	RTeQTL
rs4826	ANKRD36B	cis	cerebellum	SCAN
rs4826	TMEM127	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96840400-96851200	Weak transcription	Hela-S3	cervix
2	chr2:96840400-96851600	Weak transcription	Colonic Mucosa	Colon
3	chr2:96842600-96861600	Weak transcription	Right Atrium	heart
4	chr2:96846800-96851400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:96848000-96851200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:96848000-96858800	Weak transcription	Fetal Brain Male	brain
7	chr2:96848400-96851800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:96848600-96851600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:96848600-96853200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:96848600-96861400	Strong transcription	Thymus	Thymus
11	chr2:96848600-96861600	Strong transcription	Fetal Stomach	stomach
12	chr2:96848800-96852000	Weak transcription	Small Intestine	intestine
13	chr2:96849000-96852000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:96849000-96852200	Strong transcription	Fetal Intestine Small	intestine
15	chr2:96849000-96852600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:96849000-96860400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:96849200-96852000	Strong transcription	Left Ventricle	heart
18	chr2:96849200-96854600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:96849200-96861400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:96849200-96861400	Strong transcription	Stomach Smooth Muscle	stomach
21	chr2:96849200-96861600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr2:96849400-96861000	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:96849400-96861200	Strong transcription	Brain Hippocampus Middle	brain
24	chr2:96849600-96852000	Strong transcription	Fetal Intestine Large	intestine
25	chr2:96849600-96852000	Strong transcription	Placenta	Placenta
26	chr2:96849600-96852400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:96849600-96852400	Strong transcription	Osteobl	bone
28	chr2:96849600-96852600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:96849600-96861000	Strong transcription	Lung	lung
30	chr2:96849600-96861400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr2:96849600-96861400	Strong transcription	Fetal Thymus	thymus
32	chr2:96849600-96861600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr2:96849600-96861600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr2:96849600-96862000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:96849600-96872600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr2:96849800-96852000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:96849800-96852400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:96849800-96852800	Strong transcription	Gastric	stomach
39	chr2:96849800-96853000	Strong transcription	Duodenum Mucosa	Duodenum
40	chr2:96849800-96853000	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:96849800-96853200	Strong transcription	Brain Anterior Caudate	brain
42	chr2:96849800-96853400	Strong transcription	A549	lung
43	chr2:96849800-96853600	Strong transcription	Adipose Nuclei	Adipose
44	chr2:96849800-96853600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr2:96849800-96854000	Strong transcription	Primary hematopoietic stem cells	blood
46	chr2:96849800-96861000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:96849800-96861200	Strong transcription	Liver	Liver
48	chr2:96849800-96861200	Strong transcription	Brain Germinal Matrix	brain
49	chr2:96849800-96861400	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr2:96849800-96861400	Strong transcription	Primary monocytes fromperipheralblood	blood

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