Variant report

Variant	rs3750009
Chromosome Location	chr7:4901385-4901386
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10229247	0.85[ASN][1000 genomes]
rs10235539	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10235701	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10275805	0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[MKK][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11982597	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs13239955	0.81[JPT][hapmap]
rs13242220	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1553960	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720427	0.90[CHB][hapmap];0.80[JPT][hapmap];0.80[LWK][hapmap]
rs4724137	0.85[JPT][hapmap]
rs55709921	0.81[ASN][1000 genomes]
rs56008584	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6463120	0.85[ASN][1000 genomes]
rs6463135	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6948173	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6950905	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6958275	0.89[CHB][hapmap]
rs6964780	0.90[CHB][hapmap];0.80[GIH][hapmap];0.80[JPT][hapmap];0.82[LWK][hapmap];0.82[ASN][1000 genomes]
rs6966725	0.90[CHB][hapmap];0.80[GIH][hapmap]
rs6970381	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6976105	0.90[CHB][hapmap];0.80[GIH][hapmap];0.80[JPT][hapmap]
rs6976625	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7385697	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7385698	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7789495	0.81[ASN][1000 genomes]
rs7794427	0.81[JPT][hapmap]
rs7799569	0.85[ASN][1000 genomes]
rs7799814	0.90[CHB][hapmap]
rs7803124	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv823994	chr7:4792385-4928328	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv8033	chr7:4802287-5086597	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv1022678	chr7:4810626-5113387	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv538705	chr7:4810626-5113387	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv528748	chr7:4820581-5010993	Enhancers Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1029123	chr7:4821734-4919277	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1021170	chr7:4831361-5058033	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv538706	chr7:4831361-5058033	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv1025467	chr7:4850447-5021443	ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv605979	chr7:4854592-4944514	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv1021999	chr7:4862082-5003190	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv538707	chr7:4862082-5003190	Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv1033855	chr7:4862677-5069764	Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv605980	chr7:4876057-5003373	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3750009	CYP2W1	cis	parietal	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4896600-4901600	Weak transcription	Fetal Lung	lung
2	chr7:4900400-4902200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:4900800-4901600	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
4	chr7:4900800-4902000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr7:4900800-4902200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:4901000-4901400	Flanking Active TSS	Primary B cells from peripheral blood	blood
7	chr7:4901000-4901400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:4901000-4901600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr7:4901000-4901800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr7:4901000-4901800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:4901000-4902000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:4901000-4902000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr7:4901000-4902000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
14	chr7:4901000-4902000	Active TSS	Brain Anterior Caudate	brain
15	chr7:4901000-4902000	Active TSS	Fetal Kidney	kidney
16	chr7:4901000-4902200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr7:4901000-4902200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:4901000-4902200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
19	chr7:4901000-4902200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:4901200-4901400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr7:4901200-4901400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:4901200-4901400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:4901200-4901400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:4901200-4901400	Enhancers	Pancreas	Pancrea
25	chr7:4901200-4901400	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
26	chr7:4901200-4901600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr7:4901200-4901600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:4901200-4901600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:4901200-4901600	Active TSS	Brain Cingulate Gyrus	brain
30	chr7:4901200-4901600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
31	chr7:4901200-4901600	Active TSS	Fetal Brain Female	brain
32	chr7:4901200-4901600	Active TSS	Ovary	ovary
33	chr7:4901200-4901600	Bivalent/Poised TSS	Thymus	Thymus
34	chr7:4901200-4901800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:4901200-4901800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:4901200-4901800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:4901200-4901800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:4901200-4901800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr7:4901200-4901800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr7:4901200-4901800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:4901200-4901800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:4901200-4901800	Active TSS	Adipose Nuclei	Adipose
43	chr7:4901200-4901800	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr7:4901200-4901800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr7:4901200-4901800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
46	chr7:4901200-4901800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
47	chr7:4901200-4901800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
48	chr7:4901200-4901800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
49	chr7:4901200-4901800	Bivalent/Poised TSS	Fetal Thymus	thymus
50	chr7:4901200-4901800	Active TSS	Right Atrium	heart

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