Variant report

Variant	rs60481796
Chromosome Location	chr19:41201080-41201081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:41199688..41201242-chr19:41206885..41209819,2	MCF-7	breast:
2	chr19:41200088..41203329-chr19:41209690..41212303,3	K562	blood:
3	chr19:41193560..41201987-chr19:41206623..41212331,16	K562	blood:
4	chr19:41198980..41204172-chr19:41204698..41209532,5	K562	blood:
5	chr19:41196517..41199053-chr19:41199774..41203369,4	MCF-7	breast:
6	chr19:41198952..41202024-chr19:41219495..41221702,3	MCF-7	breast:
7	chr19:41200175..41202352-chr19:41204819..41206717,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105245	Chromatin interaction
ENSG00000123815	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs34222811	1.00[AMR][1000 genomes]
rs58152093	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59062602	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60017323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60529488	0.84[AFR][1000 genomes]
rs61339090	0.94[AFR][1000 genomes];1.00[AMR][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	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	nsv911728	chr19:41111069-41211056	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	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
4	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41197000-41205200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:41197000-41207600	Weak transcription	Fetal Kidney	kidney
3	chr19:41197000-41208000	Weak transcription	Small Intestine	intestine
4	chr19:41197200-41207400	Weak transcription	Stomach Mucosa	stomach
5	chr19:41197200-41210000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr19:41197200-41210600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr19:41197200-41220200	Weak transcription	Fetal Heart	heart
8	chr19:41197200-41220600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr19:41197400-41201400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:41197400-41201400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr19:41197400-41202600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr19:41197400-41205200	Weak transcription	Colonic Mucosa	Colon
13	chr19:41197400-41205200	Weak transcription	Osteobl	bone
14	chr19:41197400-41207600	Weak transcription	NHDF-Ad	bronchial
15	chr19:41197400-41210600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr19:41197400-41219800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr19:41197400-41220000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr19:41197400-41220000	Strong transcription	Fetal Intestine Small	intestine
19	chr19:41197400-41220200	Weak transcription	HUVEC	blood vessel
20	chr19:41197600-41201200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr19:41197600-41201600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:41197600-41201800	Weak transcription	HepG2	liver
23	chr19:41197600-41202000	Strong transcription	Liver	Liver
24	chr19:41197600-41202400	Strong transcription	Lung	lung
25	chr19:41197600-41203200	Strong transcription	Spleen	Spleen
26	chr19:41197600-41203400	Strong transcription	Fetal Intestine Large	intestine
27	chr19:41197600-41203600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:41197600-41207000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:41197600-41208800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr19:41197600-41216000	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr19:41197600-41220200	Weak transcription	Psoas Muscle	Psoas
32	chr19:41197800-41202200	Strong transcription	Placenta	Placenta
33	chr19:41197800-41202200	Strong transcription	Gastric	stomach
34	chr19:41197800-41202400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr19:41197800-41203400	Strong transcription	NHEK	skin
36	chr19:41197800-41203600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr19:41197800-41203800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr19:41197800-41204600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr19:41197800-41205400	Weak transcription	GM12878-XiMat	blood
40	chr19:41197800-41207400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr19:41197800-41208200	Strong transcription	Fetal Stomach	stomach
42	chr19:41197800-41211000	Weak transcription	Right Atrium	heart
43	chr19:41197800-41219000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr19:41198000-41201400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr19:41198000-41201800	Strong transcription	NHLF	lung
46	chr19:41198000-41203000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:41198000-41203200	Strong transcription	Primary T cells from cord blood	blood
48	chr19:41198000-41203200	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr19:41198000-41207800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr19:41198000-41208200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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