Variant report

Variant	rs2011679
Chromosome Location	chr7:4861224-4861225
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4860551..4862128-chr7:5120985..5122745,2	K562	blood:
2	chr7:4854410..4857847-chr7:4860551..4863291,3	K562	blood:
3	chr7:4836464..4838525-chr7:4860229..4862035,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157927	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1002991	1.00[ASN][1000 genomes]
rs10232558	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10258743	0.96[ASN][1000 genomes]
rs10270796	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1124130	0.96[ASN][1000 genomes]
rs11764110	1.00[ASN][1000 genomes]
rs11768079	1.00[CHB][hapmap]
rs11970860	0.96[ASN][1000 genomes]
rs11974854	0.96[ASN][1000 genomes]
rs1553961	0.81[ASN][1000 genomes]
rs17135102	1.00[CHB][hapmap]
rs17135110	1.00[CHB][hapmap]
rs17135128	1.00[CHB][hapmap]
rs17829969	1.00[CHB][hapmap]
rs2344724	0.96[ASN][1000 genomes]
rs2344725	0.96[ASN][1000 genomes]
rs28681436	0.96[ASN][1000 genomes]
rs2880933	0.84[ASN][1000 genomes]
rs3750012	1.00[CHB][hapmap]
rs3750013	1.00[CHB][hapmap]
rs3750014	1.00[CHB][hapmap]
rs3750015	1.00[CHB][hapmap]
rs3816852	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs55728141	0.96[ASN][1000 genomes]
rs57839509	0.96[ASN][1000 genomes]
rs58207166	0.81[ASN][1000 genomes]
rs59310540	0.92[ASN][1000 genomes]
rs59374668	0.81[ASN][1000 genomes]
rs59386173	0.85[ASN][1000 genomes]
rs6963791	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs6966329	0.81[ASN][1000 genomes]
rs73312621	0.88[ASN][1000 genomes]
rs749404	1.00[CHB][hapmap]
rs7788883	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7801122	1.00[CHB][hapmap]
rs7803727	1.00[CHB][hapmap]
rs879217	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs882739	1.00[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	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv471293	chr7:4764861-4885221	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv887381	chr7:4769030-4880954	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	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
11	nsv887382	chr7:4792762-4880954	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	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
17	nsv887388	chr7:4823971-4880954	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases
18	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
19	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
20	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
21	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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4834800-4876800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:4836200-4877600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:4846800-4876600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:4847200-4869600	Weak transcription	Brain Substantia Nigra	brain
5	chr7:4848000-4863200	Weak transcription	Fetal Brain Male	brain
6	chr7:4849200-4875800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:4850800-4873800	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:4853800-4869000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:4855000-4872600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:4855000-4872800	Weak transcription	Fetal Brain Female	brain
11	chr7:4856000-4864000	Weak transcription	Brain Anterior Caudate	brain
12	chr7:4858200-4873400	Weak transcription	Brain Germinal Matrix	brain
13	chr7:4859000-4863400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:4859200-4862600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:4859200-4879800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:4859400-4861600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:4859600-4862200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:4859600-4862400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:4860400-4861800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:4860800-4861800	Weak transcription	Left Ventricle	heart
21	chr7:4860800-4869800	Weak transcription	Lung	lung
22	chr7:4861000-4862200	Weak transcription	Right Ventricle	heart
23	chr7:4861000-4876000	Weak transcription	Fetal Intestine Small	intestine
24	chr7:4861000-4876800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:4861000-4877600	Weak transcription	Right Atrium	heart
26	chr7:4861200-4861600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:4861200-4868600	Weak transcription	Fetal Stomach	stomach
28	chr7:4861200-4869000	Weak transcription	Fetal Lung	lung

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