Variant report

Variant	rs8102397
Chromosome Location	chr19:18505690-18505691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18503961..18506079-chr19:18528183..18530530,2	K562	blood:
2	chr19:18443821..18446210-chr19:18503515..18506371,2	MCF-7	breast:
3	chr19:18433638..18436117-chr19:18505575..18509549,3	K562	blood:
4	chr19:18391978..18394860-chr19:18504705..18507519,3	K562	blood:

Variant related genes	Relation type
ENSG00000239821	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000130520	Chromatin interaction
ENSG00000130511	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10405975	1.00[ASN][1000 genomes]
rs10416272	1.00[ASN][1000 genomes]
rs10422162	1.00[ASN][1000 genomes]
rs11673466	1.00[ASN][1000 genomes]
rs11883283	1.00[ASN][1000 genomes]
rs16982418	0.86[EUR][1000 genomes]
rs16982427	0.86[EUR][1000 genomes]
rs16982429	0.86[EUR][1000 genomes]
rs16982485	0.86[EUR][1000 genomes]
rs28485448	1.00[ASN][1000 genomes]
rs34078075	0.86[EUR][1000 genomes]
rs34503849	1.00[ASN][1000 genomes]
rs34868531	0.86[EUR][1000 genomes]
rs35328461	0.86[EUR][1000 genomes]
rs41292093	1.00[ASN][1000 genomes]
rs41292101	1.00[ASN][1000 genomes]
rs41293569	1.00[ASN][1000 genomes]
rs41293597	1.00[ASN][1000 genomes]
rs41293625	1.00[ASN][1000 genomes]
rs41293633	1.00[ASN][1000 genomes]
rs41293635	1.00[ASN][1000 genomes]
rs5031053	1.00[ASN][1000 genomes]
rs57907504	1.00[ASN][1000 genomes]
rs58410315	0.86[EUR][1000 genomes]
rs58604797	0.86[EUR][1000 genomes]
rs58723610	0.86[EUR][1000 genomes]
rs58842178	0.86[EUR][1000 genomes]
rs59511380	0.86[EUR][1000 genomes]
rs59549953	0.86[EUR][1000 genomes]
rs60687616	0.86[EUR][1000 genomes]
rs60712481	1.00[ASN][1000 genomes]
rs61743938	0.86[EUR][1000 genomes]
rs7248992	1.00[ASN][1000 genomes]
rs8101976	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
9	nsv2430	chr19:18496428-18514937	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
10	nsv911276	chr19:18497141-18554972	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18499400-18507200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:18499400-18508200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:18499800-18506800	Weak transcription	Colon Smooth Muscle	Colon
4	chr19:18499800-18506800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr19:18499800-18507200	Weak transcription	Left Ventricle	heart
6	chr19:18499800-18507200	Weak transcription	Pancreas	Pancrea
7	chr19:18499800-18507200	Weak transcription	Right Ventricle	heart
8	chr19:18499800-18507800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:18499800-18508200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr19:18499800-18508200	Weak transcription	HMEC	breast
11	chr19:18500000-18507200	Weak transcription	NHLF	lung
12	chr19:18500000-18507600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:18500400-18508000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr19:18500600-18508200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr19:18500800-18505800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr19:18500800-18506800	Weak transcription	HSMM	muscle
17	chr19:18500800-18507200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr19:18501000-18506000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:18501000-18507200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr19:18501000-18507600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr19:18501000-18509800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:18501200-18506000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:18501200-18508000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:18501400-18511600	Weak transcription	A549	lung
25	chr19:18501600-18507800	Weak transcription	Fetal Intestine Large	intestine
26	chr19:18501800-18507400	Weak transcription	Fetal Intestine Small	intestine
27	chr19:18502600-18507200	Weak transcription	Lung	lung
28	chr19:18503800-18506800	Weak transcription	HepG2	liver
29	chr19:18503800-18507200	Weak transcription	Ovary	ovary
30	chr19:18504000-18505800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr19:18504000-18507600	Weak transcription	K562	blood
32	chr19:18504800-18505800	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr19:18504800-18506800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:18504800-18506800	Weak transcription	Adipose Nuclei	Adipose
35	chr19:18505000-18505800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:18505000-18506200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr19:18505000-18506200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr19:18505000-18506800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr19:18505000-18506800	Weak transcription	Liver	Liver
40	chr19:18505000-18507000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr19:18505000-18507200	Weak transcription	Gastric	stomach
42	chr19:18505000-18507200	Weak transcription	GM12878-XiMat	blood
43	chr19:18505000-18507800	Enhancers	Primary hematopoietic stem cells	blood
44	chr19:18505200-18507000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr19:18505200-18507200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:18505400-18506000	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr19:18505400-18507600	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
48	chr19:18505600-18506200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr19:18505600-18506200	Strong transcription	Spleen	Spleen
50	chr19:18505600-18507000	Weak transcription	Placenta	Placenta

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