Variant report

Variant	rs12151251
Chromosome Location	chr19:41259357-41259358
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:41255130-41259372	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZNF384	chr19:41259103-41259381	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41253776..41259894-chr19:41301950..41310086,19	MCF-7	breast:
2	chr19:41219701..41225554-chr19:41255271..41259667,13	K562	blood:
3	chr19:41254259..41259402-chr19:41281476..41286314,17	K562	blood:
4	chr19:41254259..41260312-chr19:41280225..41287427,15	K562	blood:
5	chr19:41222403..41224199-chr19:41258986..41261633,2	MCF-7	breast:
6	chr19:41253887..41263110-chr19:41303366..41316425,33	K562	blood:
7	chr19:41194241..41198233-chr19:41254859..41260401,9	K562	blood:

No data

Variant related genes	Relation type
SNRPA	TF binding region
C19orf54	TF binding region
ENSG00000268797	Chromatin interaction
ENSG00000261857	Chromatin interaction
ENSG00000269858	Chromatin interaction
ENSG00000105245	Chromatin interaction
ENSG00000086544	Chromatin interaction
ENSG00000167578	Chromatin interaction
ENSG00000123815	Chromatin interaction
ENSG00000171570	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1870086	0.86[ASN][1000 genomes]
rs1870087	0.87[ASN][1000 genomes]
rs2369302	0.83[ASN][1000 genomes]
rs4803363	0.83[ASN][1000 genomes]
rs8111960	0.84[ASN][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	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	esv1802033	chr19:41256131-41284240	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	40 gene(s)	inside rSNPs	diseases
4	esv1801805	chr19:41256581-41284363	Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41257000-41259400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:41257400-41259400	Transcr. at gene 5' and 3'	K562	blood
3	chr19:41257400-41259600	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr19:41257800-41259400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:41258000-41259400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr19:41258000-41259600	Enhancers	Spleen	Spleen
7	chr19:41258000-41260200	Weak transcription	Fetal Heart	heart
8	chr19:41258000-41261200	Weak transcription	Aorta	Aorta
9	chr19:41258000-41283000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr19:41258200-41260200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:41258200-41260400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:41258400-41259800	Weak transcription	Fetal Stomach	stomach
13	chr19:41258400-41260200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:41258400-41260200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr19:41258400-41260200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:41258400-41260200	Weak transcription	Brain Substantia Nigra	brain
17	chr19:41258400-41260200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr19:41258400-41260200	Weak transcription	Small Intestine	intestine
19	chr19:41258400-41260400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr19:41258400-41261400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr19:41258400-41261600	Weak transcription	HSMMtube	muscle
22	chr19:41258400-41265200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr19:41258600-41259800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:41258600-41259800	Genic enhancers	Primary B cells from peripheral blood	blood
25	chr19:41258600-41260200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr19:41258600-41260200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:41258600-41260200	Weak transcription	Fetal Lung	lung
28	chr19:41258600-41260200	Weak transcription	Pancreas	Pancrea
29	chr19:41258600-41260400	Weak transcription	HSMM	muscle
30	chr19:41258600-41260600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr19:41258600-41262400	Genic enhancers	Fetal Thymus	thymus
32	chr19:41258800-41260200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:41258800-41260200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr19:41258800-41260200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:41258800-41260200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:41258800-41260200	Weak transcription	Brain Angular Gyrus	brain
37	chr19:41258800-41260200	Weak transcription	Gastric	stomach
38	chr19:41258800-41260200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr19:41258800-41260400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr19:41258800-41260400	Enhancers	Primary B cells from cord blood	blood
41	chr19:41258800-41260400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr19:41258800-41260400	Enhancers	Liver	Liver
43	chr19:41258800-41260400	Weak transcription	Fetal Kidney	kidney
44	chr19:41258800-41260400	Weak transcription	Right Ventricle	heart
45	chr19:41258800-41268400	Weak transcription	Psoas Muscle	Psoas
46	chr19:41259000-41259400	Weak transcription	Thymus	Thymus
47	chr19:41259000-41259400	Enhancers	HepG2	liver
48	chr19:41259000-41259600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr19:41259000-41259600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr19:41259000-41259800	Enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links