Variant report

Variant	rs2945975
Chromosome Location	chr19:36962742-36962743
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36962037..36966050-chr19:36978792..36981702,4	MCF-7	breast:
2	chr19:36962098..36963692-chr19:36979457..36982115,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267309	Chromatin interaction
ENSG00000186017	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1878927	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2385796	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2912411	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2912420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2912421	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2912422	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2912426	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2945954	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2945970	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2945982	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2945987	0.81[ASN][1000 genomes]
rs2967432	0.87[ASN][1000 genomes]
rs2967434	0.83[ASN][1000 genomes]
rs2967456	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2967467	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2967468	0.82[ASN][1000 genomes]
rs2967474	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2967475	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2967529	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2967532	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2967533	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2967542	0.82[ASN][1000 genomes]
rs2967544	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs3107237	0.82[ASN][1000 genomes]
rs6510545	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv911648	chr19:36914171-37047472	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS 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	61 gene(s)	inside rSNPs	diseases
5	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv1067364	chr19:36921204-36985874	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36936400-36978400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:36941000-36979000	Weak transcription	Hela-S3	cervix
3	chr19:36942600-36963000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:36942600-36966200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:36944800-36969600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr19:36945800-36979000	Weak transcription	Fetal Heart	heart
7	chr19:36946000-36963000	Weak transcription	K562	blood
8	chr19:36946400-36963400	Weak transcription	NHDF-Ad	bronchial
9	chr19:36947600-36977400	ZNF genes & repeats	Liver	Liver
10	chr19:36951400-36963000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr19:36953200-36967600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:36953200-36967800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:36953400-36967600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:36953600-36963000	Weak transcription	HepG2	liver
15	chr19:36954000-36972200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:36954200-36962800	Weak transcription	Colonic Mucosa	Colon
17	chr19:36954400-36967800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:36955200-36963400	Weak transcription	Stomach Mucosa	stomach
19	chr19:36955200-36966400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr19:36955200-36966600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr19:36955400-36966400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
22	chr19:36955600-36967200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr19:36955800-36965400	Weak transcription	NHEK	skin
24	chr19:36956000-36966000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:36956000-36966600	Strong transcription	Dnd41	blood
26	chr19:36956600-36964600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:36957000-36963400	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr19:36957200-36963600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr19:36957200-36966600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr19:36957200-36966600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:36957200-36979600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr19:36957400-36962800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr19:36957400-36963000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr19:36957400-36963000	Weak transcription	HSMM	muscle
35	chr19:36957400-36963200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr19:36957400-36979400	Weak transcription	NH-A	brain
37	chr19:36957600-36963200	Weak transcription	Fetal Brain Male	brain
38	chr19:36957600-36964400	Weak transcription	HMEC	breast
39	chr19:36957600-36965000	Strong transcription	Adipose Nuclei	Adipose
40	chr19:36958000-36965000	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr19:36958200-36964400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr19:36958200-36967600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr19:36958400-36965000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr19:36958600-36964000	Strong transcription	Fetal Stomach	stomach
45	chr19:36958800-36967000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
46	chr19:36958800-36971200	ZNF genes & repeats	A549	lung
47	chr19:36959000-36965200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:36959200-36964200	Strong transcription	Brain Anterior Caudate	brain
49	chr19:36959400-36963000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr19:36959400-36964000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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