Variant report

Variant	rs4907232
Chromosome Location	chr2:96983112-96983113
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:96981443..96983344-chr2:96985356..96987285,2	MCF-7	breast:
2	chr2:96977549..96980763-chr2:96982097..96985833,3	K562	blood:
3	chr2:96972270..96973802-chr2:96981535..96983536,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2279105	0.83[ASN][1000 genomes]
rs3171927	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731935	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3731936	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4907231	0.96[ASN][1000 genomes]
rs4907308	0.97[ASN][1000 genomes]
rs62153034	0.97[ASN][1000 genomes]
rs62153035	0.86[ASN][1000 genomes]
rs62153039	0.99[ASN][1000 genomes]
rs62153041	0.99[ASN][1000 genomes]
rs62153898	0.99[ASN][1000 genomes]
rs62153900	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62153901	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62153902	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62153905	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62153906	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62153922	0.83[EUR][1000 genomes]
rs7562544	0.83[EUR][1000 genomes];0.90[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	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	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
8	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
9	nsv508155	chr2:96934695-97138302	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4907232	AC008268.2	cis	Skin Sun Exposed Lower leg	GTEx
rs4907232	AC008268.2	cis	Adipose Subcutaneous	GTEx
rs4907232	AC008268.2	cis	Whole Blood	GTEx
rs4907232	AC008268.2	cis	lung	GTEx
rs4907232	AC008268.2	cis	Artery Tibial	GTEx
rs4907232	CIAO1	cis	Skin Sun Exposed Lower leg	GTEx
rs4907232	CIAO1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96980400-96986400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:96980800-96983200	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr2:96980800-96983600	Enhancers	NHDF-Ad	bronchial
4	chr2:96980800-96985200	Enhancers	HepG2	liver
5	chr2:96980800-96986200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr2:96981000-96983600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:96981600-96983400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:96981600-96986800	Weak transcription	Spleen	Spleen
9	chr2:96981800-96983800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:96981800-96986200	Weak transcription	K562	blood
11	chr2:96982000-96984600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:96982000-96986400	Weak transcription	Hela-S3	cervix
13	chr2:96982000-96986600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr2:96982200-96983600	Enhancers	Primary hematopoietic stem cells	blood
15	chr2:96982200-96984600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:96982200-96984600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:96982200-96984800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr2:96982200-96985000	Weak transcription	Primary B cells from cord blood	blood
19	chr2:96982200-96985600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:96982200-96986000	Weak transcription	A549	lung
21	chr2:96982200-96986400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:96982200-96986600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:96982200-96986600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:96982200-96986600	Weak transcription	NHLF	lung
25	chr2:96982400-96983600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:96982400-96983600	Enhancers	GM12878-XiMat	blood
27	chr2:96982400-96984800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr2:96982400-96984800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr2:96982400-96986000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:96982400-96986400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:96982400-96986400	Weak transcription	Adipose Nuclei	Adipose
32	chr2:96982400-96986600	Weak transcription	HSMM	muscle
33	chr2:96982600-96984800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:96982600-96985200	Weak transcription	Fetal Thymus	thymus
35	chr2:96982600-96985600	Weak transcription	Primary T cells from cord blood	blood
36	chr2:96982600-96986000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:96982600-96986600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:96982600-96986600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:96982600-96986600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:96982800-96983600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr2:96983000-96983800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr2:96983000-96984400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:96983000-96984800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:96983000-96984800	Weak transcription	Dnd41	blood

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