Variant report

Variant	rs4907231
Chromosome Location	chr2:96969543-96969544
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:96930148..96938607-chr2:96966008..96973188,21	MCF-7	breast:
2	chr2:96969262..96970891-chr2:97008421..97010765,2	K562	blood:
3	chr2:96968224..96973301-chr2:96983171..96988936,6	MCF-7	breast:
4	chr2:96967785..96972096-chr2:96987875..96991841,5	K562	blood:
5	chr2:96968917..96970617-chr2:96996480..96998575,2	MCF-7	breast:
6	chr2:96969192..96974477-chr2:96999948..97003661,14	K562	blood:
7	chr2:96948930..96951711-chr2:96968468..96971166,2	MCF-7	breast:
8	chr2:96968671..96973165-chr2:96996066..97004511,14	MCF-7	breast:
9	chr2:96968585..96970828-chr2:97172728..97175228,2	MCF-7	breast:
10	chr2:96928652..96934635-chr2:96966746..96973769,11	K562	blood:
11	chr2:96930218..96933448-chr2:96968870..96972894,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000144028	Chromatin interaction
ENSG00000135956	Chromatin interaction
ENSG00000198885	Chromatin interaction
ENSG00000144021	Chromatin interaction
ENSG00000230747	Chromatin interaction
ENSG00000121152	Chromatin interaction
ENSG00000163121	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1044594	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1048675	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11903461	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17420101	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17479466	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17633463	0.87[AMR][1000 genomes]
rs2276648	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2276649	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2279105	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3171927	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3214058	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3214063	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3731930	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3731935	0.84[ASN][1000 genomes]
rs3731936	0.84[ASN][1000 genomes]
rs4907232	0.96[ASN][1000 genomes]
rs4907307	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4907308	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4907309	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4907310	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4907311	0.85[AMR][1000 genomes]
rs4907312	0.82[AMR][1000 genomes]
rs56027554	0.81[AMR][1000 genomes]
rs56800261	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59966106	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59979953	0.85[AMR][1000 genomes]
rs62153033	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62153034	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62153035	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62153039	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62153041	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62153898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62153900	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62153901	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62153902	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62153905	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62153906	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62153915	0.81[AMR][1000 genomes]
rs7562544	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[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:9)

SNP	Gene	Cis/trans	Tissue	Source
rs4907231	AC008268.2	cis	Artery Tibial	GTEx
rs4907231	CIAO1	Cis_1M	lymphoblastoid	RTeQTL
rs4907231	CIAO1	cis	Skin Sun Exposed Lower leg	GTEx
rs4907231	CIAO1	cis	Artery Aorta	GTEx
rs4907231	CIAO1	cis	Esophagus Mucosa	GTEx
rs4907231	CIAO1	cis	Heart Left Ventricle	GTEx
rs4907231	AC008268.2	cis	Adipose Subcutaneous	GTEx
rs4907231	CIAO1	cis	Adipose Subcutaneous	GTEx
rs4907231	CIAO1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96932800-96970400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:96933200-96970200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:96933200-96970400	Weak transcription	Right Atrium	heart
4	chr2:96933400-96970200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:96933400-96970200	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:96933400-96970200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:96933400-96970200	Strong transcription	Fetal Lung	lung
8	chr2:96933400-96970200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:96933600-96969600	Strong transcription	Duodenum Mucosa	Duodenum
10	chr2:96933600-96969600	Strong transcription	Stomach Smooth Muscle	stomach
11	chr2:96933600-96969800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:96933600-96969800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:96933600-96969800	Strong transcription	Fetal Intestine Small	intestine
14	chr2:96933600-96969800	Strong transcription	Fetal Stomach	stomach
15	chr2:96933600-96969800	Strong transcription	Hela-S3	cervix
16	chr2:96933600-96970000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:96933600-96970000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:96933600-96970000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:96933600-96970200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:96933600-96970200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:96933600-96970200	Strong transcription	Fetal Muscle Leg	muscle
22	chr2:96933600-96970200	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr2:96933800-96969800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:96933800-96969800	Strong transcription	Fetal Intestine Large	intestine
25	chr2:96934400-96969800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:96934600-96970000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:96936400-96969600	Strong transcription	Fetal Brain Female	brain
28	chr2:96936400-96970000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:96936400-96970000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:96936800-96970200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:96937600-96970000	Strong transcription	A549	lung
32	chr2:96939800-96970000	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:96940200-96969600	Strong transcription	Brain Substantia Nigra	brain
34	chr2:96940400-96969800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:96940800-96970200	Strong transcription	Osteobl	bone
36	chr2:96941400-96969800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:96942800-96969600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:96942800-96969600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:96944000-96970200	Strong transcription	Brain Anterior Caudate	brain
40	chr2:96946800-96970200	Strong transcription	HSMM	muscle
41	chr2:96947000-96970200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:96947200-96970000	Strong transcription	NH-A	brain
43	chr2:96947200-96970200	Strong transcription	NHDF-Ad	bronchial
44	chr2:96958000-96969600	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:96958000-96970200	Strong transcription	Placenta	Placenta
46	chr2:96958400-96970400	Weak transcription	Stomach Mucosa	stomach
47	chr2:96959000-96969800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:96963400-96969800	Strong transcription	Adipose Nuclei	Adipose
49	chr2:96963400-96970000	Strong transcription	Fetal Brain Male	brain
50	chr2:96965600-96970000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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