Variant report

Variant	rs8113360
Chromosome Location	chr19:43980763-43980764
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:43967220..43971779-chr19:43975734..43980942,11	MCF-7	breast:
2	chr19:43966005..43970813-chr19:43978022..43981097,6	K562	blood:
3	chr19:43978041..43981341-chr19:43983217..43985087,4	K562	blood:
4	chr19:43979844..43983821-chr19:43985802..43988529,4	MCF-7	breast:
5	chr19:43977172..43980889-chr19:44011519..44014130,3	MCF-7	breast:
6	chr19:43967515..43971066-chr19:43978004..43981821,7	MCF-7	breast:
7	chr19:43978041..43981148-chr19:43983217..43985461,3	K562	blood:
8	chr19:43977180..43982299-chr19:44003653..44008245,6	K562	blood:
9	chr19:43966005..43974691-chr19:43977125..43981104,12	K562	blood:
10	chr19:43973013..43975341-chr19:43978151..43982026,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124466	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs58361778	0.81[AFR][1000 genomes]
rs59481290	0.84[AFR][1000 genomes]
rs73549100	0.81[AFR][1000 genomes]
rs73550703	0.97[AFR][1000 genomes];1.00[AMR][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	nsv1055872	chr19:43173614-44075193	Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv544009	chr19:43173614-44075193	Enhancers ZNF genes & repeats Genic enhancers Active TSS Weak transcription Strong transcription Flanking 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1067126	chr19:43260649-44075194	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv544015	chr19:43260649-44075194	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1057657	chr19:43302497-44076564	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv1059631	chr19:43316978-44075054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv544030	chr19:43316978-44075054	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv532820	chr19:43807486-44080610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1056721	chr19:43808474-44095077	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
11	nsv1058162	chr19:43846238-44055058	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	esv3417194	chr19:43975161-44000760	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43970000-43998200	Weak transcription	Gastric	stomach
2	chr19:43973800-43999800	Weak transcription	HepG2	liver
3	chr19:43979200-43982000	Weak transcription	Spleen	Spleen
4	chr19:43979400-43981400	Enhancers	NHLF	lung
5	chr19:43979400-43983200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:43979600-44005800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:43979800-43980800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:43979800-43980800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:43979800-43981200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr19:43979800-43981200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr19:43979800-43981400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:43979800-43981800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr19:43979800-43982200	Weak transcription	Esophagus	oesophagus
14	chr19:43979800-43985200	Weak transcription	Ovary	ovary
15	chr19:43979800-43990200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr19:43979800-43992400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:43979800-43994800	Weak transcription	Left Ventricle	heart
18	chr19:43979800-43998400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:43979800-43998600	Weak transcription	Lung	lung
20	chr19:43979800-43998800	Weak transcription	Aorta	Aorta
21	chr19:43979800-43998800	Weak transcription	Pancreas	Pancrea
22	chr19:43980000-43980800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr19:43980000-43980800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr19:43980000-43980800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr19:43980000-43981000	Enhancers	Fetal Muscle Leg	muscle
26	chr19:43980000-43981000	Enhancers	Hela-S3	cervix
27	chr19:43980000-43981000	Enhancers	HSMMtube	muscle
28	chr19:43980000-43981000	Enhancers	NHEK	skin
29	chr19:43980000-43981200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:43980000-43981200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:43980000-43981200	Weak transcription	Thymus	Thymus
32	chr19:43980000-43981400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr19:43980000-43981400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr19:43980000-43981400	Weak transcription	Primary T cells from cord blood	blood
35	chr19:43980000-43981400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr19:43980000-43981400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:43980000-43981400	Enhancers	HUVEC	blood vessel
38	chr19:43980000-43981400	Enhancers	NHDF-Ad	bronchial
39	chr19:43980000-43981600	Enhancers	Fetal Muscle Trunk	muscle
40	chr19:43980000-43982000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:43980000-43982000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:43980000-43982000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:43980000-43982000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr19:43980000-43982000	Weak transcription	Brain Hippocampus Middle	brain
45	chr19:43980000-43982000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr19:43980000-43982000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr19:43980000-43982000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr19:43980000-43982800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr19:43980000-43984000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr19:43980000-43984000	Weak transcription	Fetal Heart	heart

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