Variant report

Variant	rs55877107
Chromosome Location	chr19:19384896-19384897
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19384577..19386203-chr19:19388312..19391208,2	MCF-7	breast:
2	chr19:19370401..19373352-chr19:19382111..19385169,3	K562	blood:
3	chr19:19379140..19381298-chr19:19384434..19386732,2	K562	blood:
4	chr19:19371281..19373352-chr19:19383019..19385169,2	K562	blood:
5	chr19:19302936..19305152-chr19:19382979..19386540,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213999	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000187664	Chromatin interaction
ENSG00000064489	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10402729	0.87[AMR][1000 genomes]
rs10402799	0.85[AFR][1000 genomes]
rs10408216	0.87[AFR][1000 genomes]
rs10413309	0.85[AFR][1000 genomes]
rs10413995	0.87[AMR][1000 genomes]
rs10414990	0.87[AMR][1000 genomes]
rs10416520	0.87[AMR][1000 genomes]
rs10417330	0.87[AMR][1000 genomes]
rs10417715	0.90[AFR][1000 genomes]
rs10422331	0.96[AFR][1000 genomes]
rs10422620	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10423747	0.90[AFR][1000 genomes]
rs10425084	0.87[AMR][1000 genomes]
rs12327663	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13344498	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16996031	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28437425	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28857503	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56304704	0.85[AFR][1000 genomes]
rs56317107	0.85[AFR][1000 genomes]
rs57002012	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58409825	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60860168	0.85[AFR][1000 genomes]
rs73922864	0.85[AFR][1000 genomes]
rs73922870	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911304	chr19:19303802-19408164	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv911306	chr19:19366643-19391838	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19381600-19385600	Weak transcription	Brain Angular Gyrus	brain
2	chr19:19381600-19387600	Weak transcription	K562	blood
3	chr19:19383600-19385400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr19:19383800-19387000	Weak transcription	Brain Substantia Nigra	brain
5	chr19:19383800-19388400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:19384000-19387200	Weak transcription	GM12878-XiMat	blood
7	chr19:19384000-19388200	Weak transcription	HMEC	breast
8	chr19:19384200-19385200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:19384200-19385800	Enhancers	Liver	Liver
10	chr19:19384200-19385800	Weak transcription	Left Ventricle	heart
11	chr19:19384200-19386200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:19384200-19386200	Weak transcription	Aorta	Aorta
13	chr19:19384200-19386400	Weak transcription	HSMM	muscle
14	chr19:19384200-19386400	Weak transcription	NHLF	lung
15	chr19:19384200-19386600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr19:19384200-19386600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr19:19384200-19387200	Weak transcription	A549	lung
18	chr19:19384200-19387200	Weak transcription	NH-A	brain
19	chr19:19384200-19387200	Weak transcription	Osteobl	bone
20	chr19:19384200-19387400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr19:19384400-19385000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr19:19384400-19385200	Enhancers	Duodenum Mucosa	Duodenum
23	chr19:19384400-19385200	Weak transcription	Fetal Brain Female	brain
24	chr19:19384400-19385400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr19:19384400-19385400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr19:19384400-19385400	Enhancers	Fetal Muscle Leg	muscle
27	chr19:19384400-19385600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr19:19384400-19385600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:19384400-19385600	Weak transcription	Pancreas	Pancrea
30	chr19:19384400-19385600	Weak transcription	Right Ventricle	heart
31	chr19:19384400-19385800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:19384400-19385800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:19384400-19385800	Weak transcription	Esophagus	oesophagus
34	chr19:19384400-19386000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr19:19384400-19386000	Weak transcription	Gastric	stomach
36	chr19:19384400-19386200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr19:19384400-19386200	Enhancers	Fetal Intestine Large	intestine
38	chr19:19384400-19386400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr19:19384400-19386400	Weak transcription	Colonic Mucosa	Colon
40	chr19:19384400-19386400	Weak transcription	Ovary	ovary
41	chr19:19384400-19386400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr19:19384400-19386600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr19:19384400-19386800	Genic enhancers	Fetal Intestine Small	intestine
44	chr19:19384400-19388400	Weak transcription	Psoas Muscle	Psoas
45	chr19:19384400-19391600	Weak transcription	Hela-S3	cervix
46	chr19:19384400-19392200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:19384400-19430600	Weak transcription	Right Atrium	heart
48	chr19:19384600-19385000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:19384600-19385000	Weak transcription	Spleen	Spleen
50	chr19:19384600-19385200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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