Variant report

Variant	rs34633896
Chromosome Location	chr19:41219426-41219427
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:41213611..41215968-chr19:41219093..41222083,3	MCF-7	breast:
2	chr19:40949565..40951989-chr19:41219354..41222014,2	K562	blood:
3	chr19:41195568..41198287-chr19:41219071..41220657,2	K562	blood:
4	chr19:40948713..40950768-chr19:41219384..41222098,2	K562	blood:
5	chr19:41193720..41198590-chr19:41218677..41224410,19	MCF-7	breast:
6	chr19:41219350..41226574-chr19:41253922..41258567,22	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223284	Chromatin interaction
ENSG00000105245	Chromatin interaction
ENSG00000188493	Chromatin interaction
ENSG00000167565	Chromatin interaction
ENSG00000077312	Chromatin interaction
ENSG00000268366	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10420651	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10420685	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1531063	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2254326	0.81[EUR][1000 genomes]
rs2254338	0.81[EUR][1000 genomes]
rs2303723	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2561529	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2561531	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2607418	0.81[EUR][1000 genomes]
rs3745212	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7250888	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	esv1800615	chr19:41127465-41270055	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv1067017	chr19:41185992-41231251	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41197200-41220200	Weak transcription	Fetal Heart	heart
2	chr19:41197200-41220600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr19:41197400-41219800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr19:41197400-41220000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr19:41197400-41220000	Strong transcription	Fetal Intestine Small	intestine
6	chr19:41197400-41220200	Weak transcription	HUVEC	blood vessel
7	chr19:41197600-41220200	Weak transcription	Psoas Muscle	Psoas
8	chr19:41198400-41219800	Weak transcription	NH-A	brain
9	chr19:41204200-41219800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:41205400-41220200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr19:41206400-41219800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:41208600-41220000	Strong transcription	Fetal Stomach	stomach
13	chr19:41208800-41220000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:41208800-41220200	Weak transcription	Stomach Mucosa	stomach
15	chr19:41208800-41221000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr19:41209200-41220200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:41210800-41220200	Weak transcription	Fetal Brain Male	brain
18	chr19:41210800-41220200	Weak transcription	K562	blood
19	chr19:41211000-41220000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:41211400-41220200	Weak transcription	Hela-S3	cervix
21	chr19:41211400-41220400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr19:41211400-41220400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr19:41211600-41219800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr19:41211800-41219800	Weak transcription	HMEC	breast
25	chr19:41211800-41220000	Weak transcription	Gastric	stomach
26	chr19:41211800-41220000	Weak transcription	Pancreas	Pancrea
27	chr19:41211800-41220200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:41211800-41220200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr19:41212200-41219800	Weak transcription	Right Ventricle	heart
30	chr19:41212200-41220400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr19:41212200-41220600	Weak transcription	Aorta	Aorta
32	chr19:41212400-41219800	Weak transcription	Brain Angular Gyrus	brain
33	chr19:41212400-41220200	Weak transcription	Esophagus	oesophagus
34	chr19:41212600-41220200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr19:41212600-41220400	Weak transcription	Small Intestine	intestine
36	chr19:41213200-41219800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:41214000-41220000	Weak transcription	Dnd41	blood
38	chr19:41214200-41220000	Weak transcription	GM12878-XiMat	blood
39	chr19:41214400-41219800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr19:41214600-41220200	Weak transcription	HepG2	liver
41	chr19:41215400-41220200	Weak transcription	Fetal Kidney	kidney
42	chr19:41215600-41220200	Weak transcription	HSMM	muscle
43	chr19:41216000-41219800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:41216000-41220200	Weak transcription	Primary T cells from cord blood	blood
45	chr19:41216200-41219800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr19:41216200-41220000	Weak transcription	Primary B cells from cord blood	blood
47	chr19:41216200-41220000	Weak transcription	Left Ventricle	heart
48	chr19:41216200-41220200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr19:41216200-41220200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr19:41216200-41220200	Weak transcription	Osteobl	bone

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