Variant report

Variant	rs8107327
Chromosome Location	chr19:18428565-18428566
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:18428529-18429419	K562	blood:	n/a	n/a
2	POLR2A	chr19:18428315-18429912	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr19:18428518-18429802	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:18428465-18434923	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:18382564..18395263-chr19:18409643..18446343,165	MCF-7	breast:

Variant related genes	Relation type
LSM4	TF binding region
ENSG00000267959	Chromatin interaction
ENSG00000130518	Chromatin interaction
ENSG00000130522	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10409185	1.00[EUR][1000 genomes]
rs10410957	1.00[EUR][1000 genomes]
rs10415054	1.00[EUR][1000 genomes]
rs10418124	1.00[EUR][1000 genomes]
rs10451485	1.00[EUR][1000 genomes]
rs11880673	1.00[EUR][1000 genomes]
rs11881620	1.00[EUR][1000 genomes]
rs28489988	1.00[EUR][1000 genomes]
rs28537851	1.00[EUR][1000 genomes]
rs28706490	1.00[EUR][1000 genomes]
rs28819668	1.00[EUR][1000 genomes]
rs57757608	1.00[EUR][1000 genomes]
rs58749284	1.00[EUR][1000 genomes]
rs6512246	1.00[EUR][1000 genomes]
rs7256004	1.00[EUR][1000 genomes]
rs73523060	1.00[EUR][1000 genomes]
rs73523064	1.00[EUR][1000 genomes]
rs73523067	1.00[EUR][1000 genomes]
rs73523088	1.00[EUR][1000 genomes]
rs73525104	1.00[EUR][1000 genomes]
rs73525115	1.00[EUR][1000 genomes]
rs73527416	1.00[EUR][1000 genomes]
rs73529387	1.00[EUR][1000 genomes]
rs8101797	1.00[EUR][1000 genomes]
rs8102661	1.00[EUR][1000 genomes]
rs8103073	1.00[EUR][1000 genomes]
rs8103429	1.00[EUR][1000 genomes]
rs8105314	1.00[EUR][1000 genomes]
rs8107049	1.00[EUR][1000 genomes]
rs9749302	1.00[EUR][1000 genomes]
rs9917071	1.00[EUR][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	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	nsv911271	chr19:18362940-18453124	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
5	nsv911272	chr19:18378219-18439383	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
6	nsv911273	chr19:18386798-18454825	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	134 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18415800-18433000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:18416400-18432800	Weak transcription	HSMMtube	muscle
3	chr19:18416600-18432200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:18416600-18432600	Weak transcription	Fetal Kidney	kidney
5	chr19:18417200-18432000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:18417600-18428800	Weak transcription	Right Atrium	heart
7	chr19:18418400-18431800	Weak transcription	NHDF-Ad	bronchial
8	chr19:18419200-18428600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr19:18419400-18428800	Weak transcription	Psoas Muscle	Psoas
10	chr19:18419600-18432600	Weak transcription	Fetal Brain Male	brain
11	chr19:18419800-18428600	Weak transcription	Primary B cells from cord blood	blood
12	chr19:18420800-18428800	Weak transcription	Colon Smooth Muscle	Colon
13	chr19:18421400-18432000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:18423200-18428800	Weak transcription	Fetal Heart	heart
15	chr19:18423200-18433400	Weak transcription	Ovary	ovary
16	chr19:18423400-18429200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr19:18423600-18428800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr19:18423600-18428800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:18423600-18428800	Weak transcription	Left Ventricle	heart
20	chr19:18423600-18428800	Weak transcription	Pancreas	Pancrea
21	chr19:18423600-18428800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr19:18423600-18432400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr19:18423800-18428600	Weak transcription	Adipose Nuclei	Adipose
24	chr19:18423800-18428800	Weak transcription	Liver	Liver
25	chr19:18423800-18428800	Weak transcription	Small Intestine	intestine
26	chr19:18423800-18432600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:18424200-18428800	Weak transcription	Esophagus	oesophagus
28	chr19:18424200-18431800	Weak transcription	NH-A	brain
29	chr19:18424200-18432600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr19:18424400-18428800	Weak transcription	Brain Hippocampus Middle	brain
31	chr19:18424600-18428800	Weak transcription	A549	lung
32	chr19:18424600-18429400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr19:18424600-18432600	Weak transcription	Brain Anterior Caudate	brain
34	chr19:18424800-18432800	Weak transcription	Brain Angular Gyrus	brain
35	chr19:18425000-18429200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr19:18425000-18430600	Weak transcription	HMEC	breast
37	chr19:18425000-18432200	Weak transcription	Osteobl	bone
38	chr19:18425000-18432400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr19:18425200-18432000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr19:18425200-18432000	Weak transcription	Fetal Brain Female	brain
41	chr19:18425600-18428600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:18425600-18428600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr19:18425600-18428600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr19:18425600-18428800	Weak transcription	Brain Substantia Nigra	brain
45	chr19:18425600-18428800	Weak transcription	Colonic Mucosa	Colon
46	chr19:18425600-18429200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr19:18425800-18428800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:18426200-18428600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr19:18426200-18428800	Weak transcription	Right Ventricle	heart
50	chr19:18426200-18428800	Weak transcription	Hela-S3	cervix

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