Variant report

Variant	rs12983476
Chromosome Location	chr19:18789592-18789593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18697302..18699844-chr19:18787723..18790460,2	MCF-7	breast:
2	chr19:18781923..18783867-chr19:18787837..18789720,2	K562	blood:
3	chr19:18789026..18790711-chr19:18810926..18813520,2	K562	blood:
4	chr19:18787745..18791720-chr19:18792743..18796272,4	MCF-7	breast:
5	chr19:18788915..18790701-chr19:18792905..18794512,2	K562	blood:
6	chr19:18681468..18683110-chr19:18789281..18791486,2	MCF-7	breast:
7	chr19:18787394..18789659-chr19:18792852..18794462,2	K562	blood:
8	chr19:18781390..18783867-chr19:18783988..18789720,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000006015	Chromatin interaction
ENSG00000105662	Chromatin interaction
ENSG00000221983	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10402536	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10403231	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10423102	0.90[ASN][1000 genomes]
rs10423271	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10423676	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10423852	0.94[ASN][1000 genomes]
rs1076234	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1076235	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11085237	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11085239	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11668617	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12052075	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12610845	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12974161	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12974777	0.94[ASN][1000 genomes]
rs12976741	0.94[ASN][1000 genomes]
rs12980154	0.94[ASN][1000 genomes]
rs1473115	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2014914	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34143665	0.94[ASN][1000 genomes]
rs34190814	0.90[ASN][1000 genomes]
rs3795026	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4808146	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4808841	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4808842	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71332133	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs889362	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs889363	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[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	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription 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	92 gene(s)	inside rSNPs	diseases
2	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv911289	chr19:18700047-18811112	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18760400-18794800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:18770400-18793600	Weak transcription	GM12878-XiMat	blood
3	chr19:18775200-18793800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:18777800-18793800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr19:18780200-18793400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr19:18780200-18793800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:18780400-18793800	Weak transcription	Right Ventricle	heart
8	chr19:18780800-18793800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:18780800-18793800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr19:18781000-18793800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:18782000-18789600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr19:18782200-18793600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr19:18782800-18793800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:18783200-18793800	Weak transcription	Spleen	Spleen
15	chr19:18783400-18793000	Weak transcription	Dnd41	blood
16	chr19:18783400-18793600	Weak transcription	Primary T cells from cord blood	blood
17	chr19:18783400-18793600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:18785800-18793800	Weak transcription	Brain Angular Gyrus	brain
19	chr19:18785800-18793800	Weak transcription	Fetal Heart	heart
20	chr19:18787400-18789600	Enhancers	Placenta	Placenta
21	chr19:18787600-18789600	Enhancers	Colon Smooth Muscle	Colon
22	chr19:18787600-18789600	Enhancers	Fetal Muscle Leg	muscle
23	chr19:18787600-18789800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr19:18787600-18790000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:18787800-18789600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:18787800-18789800	Enhancers	HSMM	muscle
27	chr19:18788000-18789600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:18788000-18789600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr19:18788000-18789600	Enhancers	Adipose Nuclei	Adipose
30	chr19:18788000-18789600	Enhancers	NHEK	skin
31	chr19:18788000-18789800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr19:18788000-18791000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr19:18788000-18791000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr19:18788200-18789600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr19:18788200-18789600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr19:18788200-18789600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr19:18788200-18789600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr19:18788200-18789600	Enhancers	HMEC	breast
39	chr19:18788200-18789600	Enhancers	Osteobl	bone
40	chr19:18788200-18789800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr19:18788600-18789600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr19:18788600-18789800	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr19:18788600-18789800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr19:18788800-18789600	Enhancers	Ovary	ovary
45	chr19:18788800-18789600	Enhancers	Rectal Smooth Muscle	rectum
46	chr19:18788800-18789600	Enhancers	Right Atrium	heart
47	chr19:18789000-18789600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr19:18789000-18789600	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr19:18789000-18789600	Enhancers	Fetal Muscle Trunk	muscle
50	chr19:18789000-18789800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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