Variant report

Variant	rs7808571
Chromosome Location	chr7:111724907-111724908
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111719879..111722087-chr7:111722721..111725922,3	MCF-7	breast:
2	chr7:111724807..111725877-chr7:111784018..111785083,11	MCF-7	breast:
3	chr7:111722754..111725358-chr7:111846243..111848256,2	MCF-7	breast:
4	chr7:111724807..111725873-chr7:111784185..111785009,6	MCF-7	breast:
5	chr7:111724902..111725864-chr7:111800272..111801112,3	MCF-7	breast:
6	chr7:111711136..111713687-chr7:111723265..111726073,2	MCF-7	breast:
7	chr7:111635442..111637426-chr7:111724707..111726732,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198839	Chromatin interaction
ENSG00000128512	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1012804	0.96[ASN][1000 genomes]
rs1012806	0.96[ASN][1000 genomes]
rs10225837	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10236078	0.93[ASN][1000 genomes]
rs10256513	0.94[ASN][1000 genomes]
rs10261464	0.99[ASN][1000 genomes]
rs10262170	0.84[ASN][1000 genomes]
rs10266032	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10281256	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10487338	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11971933	0.89[ASN][1000 genomes]
rs11973245	0.84[ASN][1000 genomes]
rs11977671	0.95[ASN][1000 genomes]
rs12665946	0.88[ASN][1000 genomes]
rs12666013	0.89[ASN][1000 genomes]
rs12668460	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12668526	0.88[ASN][1000 genomes]
rs1593871	0.95[ASN][1000 genomes]
rs171825	0.82[EUR][1000 genomes]
rs2106912	0.88[ASN][1000 genomes]
rs28562311	0.96[ASN][1000 genomes]
rs2894634	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4730509	0.90[ASN][1000 genomes]
rs58092763	0.99[ASN][1000 genomes]
rs58162781	0.84[EUR][1000 genomes]
rs6944979	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6948142	0.97[ASN][1000 genomes]
rs6953244	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6958405	0.90[ASN][1000 genomes]
rs6959338	0.91[ASN][1000 genomes]
rs6976893	0.82[EUR][1000 genomes]
rs72603556	0.85[ASN][1000 genomes]
rs72603557	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs769082	0.89[ASN][1000 genomes]
rs769083	0.89[ASN][1000 genomes]
rs769084	0.89[ASN][1000 genomes]
rs7791324	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7796169	0.82[ASN][1000 genomes]
rs7800386	0.97[ASN][1000 genomes]
rs7802825	0.88[ASN][1000 genomes]
rs7802845	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608196	chr7:111073710-111794368	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv533924	chr7:111529515-111784369	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv1023261	chr7:111593889-111780337	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv1016663	chr7:111622107-111813223	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv1034249	chr7:111656902-111748774	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv539089	chr7:111656902-111748774	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv889054	chr7:111666943-111739842	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111713200-111742400	Weak transcription	Right Ventricle	heart
2	chr7:111715200-111726600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:111719800-111727800	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:111720600-111753200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:111721400-111728800	Weak transcription	Fetal Kidney	kidney
6	chr7:111721400-111737800	Weak transcription	NHEK	skin
7	chr7:111721400-111743600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:111721600-111732600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:111721600-111736800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:111722000-111729800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:111722200-111734800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:111722200-111736800	Weak transcription	Left Ventricle	heart
13	chr7:111722200-111736800	Weak transcription	Lung	lung
14	chr7:111722600-111725800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr7:111722600-111726600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:111723400-111725600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr7:111723400-111726000	Enhancers	Liver	Liver
18	chr7:111723600-111727200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:111723800-111725000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr7:111723800-111725000	Enhancers	Dnd41	blood
21	chr7:111723800-111725400	Enhancers	Brain Angular Gyrus	brain
22	chr7:111723800-111725400	Enhancers	Brain Anterior Caudate	brain
23	chr7:111723800-111725800	Enhancers	Adipose Nuclei	Adipose
24	chr7:111723800-111725800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:111723800-111728200	Enhancers	HUVEC	blood vessel
26	chr7:111723800-111728400	Enhancers	Brain Substantia Nigra	brain
27	chr7:111724000-111725000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr7:111724000-111725000	Enhancers	Primary B cells from peripheral blood	blood
29	chr7:111724000-111725000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:111724000-111725000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:111724000-111725000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr7:111724000-111725000	Enhancers	Fetal Muscle Leg	muscle
33	chr7:111724000-111725000	Flanking Active TSS	A549	lung
34	chr7:111724000-111725000	Enhancers	NHLF	lung
35	chr7:111724000-111725200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:111724000-111725200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr7:111724000-111725200	Flanking Active TSS	GM12878-XiMat	blood
38	chr7:111724000-111725400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr7:111724000-111726200	Enhancers	HepG2	liver
40	chr7:111724000-111727400	Enhancers	Fetal Lung	lung
41	chr7:111724200-111725000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:111724200-111725000	Enhancers	Primary hematopoietic stem cells	blood
43	chr7:111724200-111725000	Enhancers	NH-A	brain
44	chr7:111724200-111725400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:111724200-111725400	Enhancers	HMEC	breast
46	chr7:111724200-111726800	Weak transcription	Psoas Muscle	Psoas
47	chr7:111724400-111725000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:111724400-111725200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr7:111724400-111725200	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr7:111724400-111725200	Flanking Active TSS	Osteobl	bone

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