Variant report

Variant	rs7247282
Chromosome Location	chr19:35707480-35707481
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:35705153..35708046-chr19:35947064..35948602,2	MCF-7	breast:
2	chr19:35633583..35634463-chr19:35707432..35708405,8	MCF-7	breast:
3	chr19:35706486..35711228-chr19:35738412..35741324,6	MCF-7	breast:
4	chr19:35694392..35696589-chr19:35707373..35710054,2	K562	blood:
5	chr19:35658448..35660082-chr19:35706961..35709327,2	K562	blood:
6	chr19:35605173..35607007-chr19:35706718..35709027,2	MCF-7	breast:
7	chr19:35633667..35635767-chr19:35707293..35708391,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221946	Chromatin interaction
ENSG00000089356	Chromatin interaction
ENSG00000105699	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10403023	0.98[ASN][1000 genomes]
rs10425008	0.82[AFR][1000 genomes]
rs10425846	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11084808	0.82[AFR][1000 genomes]
rs12463330	0.81[AFR][1000 genomes]
rs12982723	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1633924	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1688010	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1688011	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1688012	0.93[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17541474	0.93[CEU][hapmap]
rs17613706	0.93[CEU][hapmap]
rs2188328	0.80[YRI][hapmap]
rs2214021	0.85[AFR][1000 genomes]
rs28579145	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs487554	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495570	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs521055	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534481	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538182	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs540818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8182468	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS 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	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv1067541	chr19:35698638-35712439	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1066553	chr19:35698638-35749563	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	esv2763203	chr19:35700047-35738400	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35694200-35708200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr19:35698000-35708200	Enhancers	Primary B cells from peripheral blood	blood
3	chr19:35698000-35708200	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr19:35698200-35708000	Enhancers	Primary B cells from cord blood	blood
5	chr19:35699200-35708000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:35701200-35709400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr19:35704600-35708000	Enhancers	NHDF-Ad	bronchial
8	chr19:35705000-35708000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr19:35705000-35708000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr19:35705000-35709400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr19:35705200-35707800	Weak transcription	Gastric	stomach
12	chr19:35705200-35708600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:35705200-35709600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:35705200-35711200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:35705400-35707600	Weak transcription	Lung	lung
16	chr19:35705400-35709000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:35705400-35711200	Weak transcription	Small Intestine	intestine
18	chr19:35705400-35715200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr19:35705600-35707800	Weak transcription	Stomach Mucosa	stomach
20	chr19:35705600-35708000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr19:35705600-35708000	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr19:35705600-35708600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr19:35705600-35711400	Weak transcription	Pancreas	Pancrea
24	chr19:35705800-35707600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr19:35706000-35708000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr19:35706000-35711200	Weak transcription	Fetal Heart	heart
27	chr19:35706000-35711200	Weak transcription	Fetal Intestine Large	intestine
28	chr19:35706000-35715200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr19:35706200-35707600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr19:35706200-35707600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr19:35706800-35707600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr19:35706800-35707600	Weak transcription	K562	blood
33	chr19:35707000-35707800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr19:35707000-35714200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr19:35707200-35707600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr19:35707200-35707600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr19:35707200-35707600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr19:35707200-35707800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:35707200-35707800	Enhancers	HMEC	breast
40	chr19:35707200-35710200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr19:35707400-35707800	Enhancers	Placenta	Placenta
42	chr19:35707400-35708000	ZNF genes & repeats	Adipose Nuclei	Adipose
43	chr19:35707400-35708000	Enhancers	Spleen	Spleen
44	chr19:35707400-35708200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr19:35707400-35708400	ZNF genes & repeats	GM12878-XiMat	blood

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