Variant report

Variant	rs17232001
Chromosome Location	chr2:148697593-148697594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:148697520-148697670	NHEK	skin:	n/a	n/a
2	POLR2A	chr2:148696957-148697725	K562	blood:	n/a	n/a
3	CEBPB	chr2:148697442-148697736	MCF-7	breast:	n/a	chr2:148697633-148697644

Variant related genes	Relation type
ORC4	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10460260	1.00[ASN][1000 genomes]
rs1234375	0.82[ASN][1000 genomes]
rs12373822	0.97[ASN][1000 genomes]
rs1364656	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1424947	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17218781	1.00[AFR][1000 genomes]
rs17218847	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17218959	0.94[ASN][1000 genomes]
rs17219064	1.00[ASN][1000 genomes]
rs17225207	0.82[ASN][1000 genomes]
rs17225277	0.94[ASN][1000 genomes]
rs17225332	0.94[ASN][1000 genomes]
rs17231987	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56047077	0.82[ASN][1000 genomes]
rs56080347	0.82[ASN][1000 genomes]
rs56672225	0.97[ASN][1000 genomes]
rs57347579	0.82[ASN][1000 genomes]
rs61232656	0.97[ASN][1000 genomes]
rs73964115	0.97[ASN][1000 genomes]
rs73964117	0.91[ASN][1000 genomes]
rs73964118	0.97[ASN][1000 genomes]
rs73964119	0.97[ASN][1000 genomes]
rs73964132	0.94[ASN][1000 genomes]
rs73964139	0.82[ASN][1000 genomes]
rs979635	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs997432	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[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	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1009602	chr2:148668195-148844240	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv535967	chr2:148668195-148844240	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv1000246	chr2:148669162-148780280	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv535968	chr2:148669162-148780280	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv535969	chr2:148677122-148715921	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148637200-148752600	Weak transcription	Small Intestine	intestine
2	chr2:148647200-148719600	Weak transcription	Pancreas	Pancrea
3	chr2:148650200-148719600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:148653200-148719600	Weak transcription	Esophagus	oesophagus
5	chr2:148658800-148741600	Weak transcription	Aorta	Aorta
6	chr2:148659600-148719800	Weak transcription	Gastric	stomach
7	chr2:148661600-148718200	Weak transcription	Fetal Intestine Small	intestine
8	chr2:148664600-148721200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:148671800-148698800	Weak transcription	NHEK	skin
10	chr2:148671800-148719600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:148672200-148706800	Weak transcription	Brain Germinal Matrix	brain
12	chr2:148675400-148708800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:148676200-148722400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:148678000-148718200	Weak transcription	Right Ventricle	heart
15	chr2:148679000-148718800	Weak transcription	Fetal Stomach	stomach
16	chr2:148679600-148737200	Weak transcription	Hela-S3	cervix
17	chr2:148681000-148729600	Weak transcription	NHDF-Ad	bronchial
18	chr2:148683000-148708400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:148683000-148725200	Weak transcription	Fetal Heart	heart
20	chr2:148683200-148708800	Weak transcription	Psoas Muscle	Psoas
21	chr2:148685000-148707600	Weak transcription	Fetal Brain Male	brain
22	chr2:148685000-148708600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:148685200-148701200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:148685200-148707400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:148688200-148702600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:148688200-148719800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:148688200-148728600	Weak transcription	NH-A	brain
28	chr2:148688400-148707400	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:148688800-148708600	Weak transcription	GM12878-XiMat	blood
30	chr2:148688800-148719600	Weak transcription	Thymus	Thymus
31	chr2:148689000-148701800	Weak transcription	Colonic Mucosa	Colon
32	chr2:148689200-148708600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:148690000-148698200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:148690000-148701600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:148690000-148701600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:148690200-148697800	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:148690200-148701600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:148690800-148698600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:148691000-148697600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:148691000-148701400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:148691000-148734600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr2:148692000-148720200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:148692400-148713400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr2:148692800-148700000	Weak transcription	Osteobl	bone
45	chr2:148692800-148719400	Weak transcription	HSMMtube	muscle
46	chr2:148693000-148712600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:148693400-148708400	Weak transcription	Fetal Lung	lung
48	chr2:148693400-148715600	Weak transcription	NHLF	lung
49	chr2:148693400-148722000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr2:148693800-148724200	Weak transcription	Brain Hippocampus Middle	brain

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