Variant report

Variant	rs157583
Chromosome Location	chr19:45396673-45396674
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:45396119-45396998	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr19:45396264-45396756	GM12892	blood:	n/a	n/a
3	NR3C1	chr19:45396575-45397014	A549	lung:	n/a	n/a
4	POLR2A	chr19:45392924-45397313	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr19:45396253-45397027	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr19:45396424-45397203	K562	blood:	n/a	n/a
7	POLR2A	chr19:45396667-45396887	HepG2	liver:	n/a	n/a
8	POLR2A	chr19:45396230-45396909	H1-hESC	embryonic stem cell:	n/a	n/a
9	NR3C1	chr19:45396559-45396968	A549	lung:	n/a	n/a
10	CEBPB	chr19:45396578-45396894	A549	lung:	n/a	chr19:45396735-45396746
11	HEY1	chr19:45396379-45397398	K562	blood:	n/a	n/a
12	CEBPB	chr19:45396632-45396832	K562	blood:	n/a	chr19:45396735-45396746
13	POLR2A	chr19:45395774-45396715	GM12878	blood:	n/a	n/a
14	CEBPB	chr19:45396634-45396894	HepG2	liver:	n/a	chr19:45396735-45396746
15	POLR2A	chr19:45396584-45397349	GM12892	blood:	n/a	n/a
16	POLR2A	chr19:45396193-45397508	K562	blood:	n/a	n/a
17	POLR2A	chr19:45396366-45396760	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:45384987..45387230-chr19:45396405..45398635,2	MCF-7	breast:
2	chr19:45389319..45391092-chr19:45394778..45397008,2	MCF-7	breast:
3	chr19:45395752..45397606-chr19:45457327..45459806,3	MCF-7	breast:
4	chr19:45349267..45355671-chr19:45392353..45397448,12	MCF-7	breast:
5	chr19:45394167..45396818-chr19:45455526..45459670,4	K562	blood:
6	chr19:45257517..45259556-chr19:45394208..45396882,2	K562	blood:
7	chr19:45396519..45400631-chr19:45405107..45409651,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267282	TF binding region
TOMM40	TF binding region
ENSG00000130202	Chromatin interaction
ENSG00000130203	Chromatin interaction
ENSG00000069399	Chromatin interaction
ENSG00000267114	Chromatin interaction
ENSG00000104853	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs157587	1.00[ASN][1000 genomes]
rs166907	1.00[ASN][1000 genomes]
rs394819	1.00[ASN][1000 genomes]
rs417357	1.00[ASN][1000 genomes]
rs434132	1.00[ASN][1000 genomes]
rs435380	1.00[ASN][1000 genomes]
rs439382	1.00[ASN][1000 genomes]
rs446037	1.00[ASN][1000 genomes]
rs490243	1.00[ASN][1000 genomes]
rs491153	1.00[ASN][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	nsv912129	chr19:45379791-45448465	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv912130	chr19:45382034-45448465	Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription 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	17 gene(s)	inside rSNPs	diseases
3	nsv912131	chr19:45391582-45415640	Flanking Active TSS Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv912132	chr19:45393473-45415640	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv912133	chr19:45395619-45482884	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv912134	chr19:45395619-45528799	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45395000-45397000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:45395000-45397400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr19:45395400-45396800	Weak transcription	Aorta	Aorta
4	chr19:45395600-45397200	Weak transcription	Small Intestine	intestine
5	chr19:45395600-45398600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr19:45395800-45396800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr19:45395800-45397600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:45395800-45399200	Weak transcription	Fetal Kidney	kidney
9	chr19:45395800-45407200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr19:45396000-45396800	Genic enhancers	Liver	Liver
11	chr19:45396000-45396800	Genic enhancers	Right Ventricle	heart
12	chr19:45396000-45396800	Genic enhancers	HMEC	breast
13	chr19:45396000-45397000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
14	chr19:45396000-45397000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
15	chr19:45396000-45397200	Strong transcription	Fetal Lung	lung
16	chr19:45396000-45397600	Strong transcription	Primary B cells from cord blood	blood
17	chr19:45396000-45398000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:45396000-45398400	Weak transcription	Fetal Brain Male	brain
19	chr19:45396000-45399000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr19:45396000-45399200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr19:45396000-45399200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr19:45396000-45399800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr19:45396000-45400600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:45396000-45400600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:45396000-45401800	Strong transcription	Brain Anterior Caudate	brain
26	chr19:45396000-45401800	Strong transcription	Thymus	Thymus
27	chr19:45396000-45402200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr19:45396000-45402800	Weak transcription	NHDF-Ad	bronchial
29	chr19:45396000-45404400	Strong transcription	Rectal Smooth Muscle	rectum
30	chr19:45396000-45406200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr19:45396000-45406200	Strong transcription	Ovary	ovary
32	chr19:45396000-45406400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr19:45396000-45406400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr19:45396000-45406400	Strong transcription	Fetal Thymus	thymus
35	chr19:45396000-45406400	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr19:45396000-45406600	Strong transcription	Primary B cells from peripheral blood	blood
37	chr19:45396000-45406800	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr19:45396000-45406800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr19:45396000-45406800	Strong transcription	Fetal Intestine Large	intestine
40	chr19:45396000-45406800	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr19:45396000-45407000	Weak transcription	Stomach Mucosa	stomach
42	chr19:45396000-45408600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr19:45396200-45396800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr19:45396200-45396800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:45396200-45397000	Strong transcription	Psoas Muscle	Psoas
46	chr19:45396200-45397000	Genic enhancers	Dnd41	blood
47	chr19:45396200-45397200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr19:45396200-45397200	Genic enhancers	Pancreas	Pancrea
49	chr19:45396200-45398000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr19:45396200-45398200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links