Variant report

Variant	rs59328743
Chromosome Location	chr19:36129155-36129156
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36129033-36131166	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr19:36128908-36129563	K562	blood:	n/a	n/a
3	POLR2A	chr19:36128579-36129582	K562	blood:	n/a	n/a
4	POLR2A	chr19:36129115-36129572	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr19:36127361-36129687	K562	blood:	n/a	n/a
6	POLR2A	chr19:36128774-36129499	HepG2	liver:	n/a	n/a
7	POLR2A	chr19:36128970-36129203	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:36129089-36129217	HepG2	liver:	n/a	n/a
9	POLR2A	chr19:36128678-36129180	GM12891	blood:	n/a	n/a
10	POLR2A	chr19:36129149-36129281	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr19:36128760-36129257	HepG2	liver:	n/a	n/a
12	POLR2A	chr19:36128531-36129692	GM12892	blood:	n/a	n/a
13	POLR2A	chr19:36128128-36131051	K562	blood:	n/a	n/a
14	POLR2A	chr19:36129045-36129521	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr19:36128620-36129239	HL-60	blood:	n/a	n/a
16	POLR2A	chr19:36128618-36129771	GM12892	blood:	n/a	n/a
17	POLR2A	chr19:36129024-36129625	GM12892	blood:	n/a	n/a
18	POLR2A	chr19:36128559-36130881	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:36128703-36131061	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr19:36128662-36129611	A549	lung:	n/a	n/a
21	POLR2A	chr19:36129155-36129591	K562	blood:	n/a	n/a
22	POLR2A	chr19:36128840-36129572	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36118444..36125285-chr19:36125367..36133017,11	MCF-7	breast:
2	chr19:36118572..36120760-chr19:36128325..36130152,2	MCF-7	breast:

No data

Variant related genes	Relation type
ETV2	TF binding region
ENSG00000126254	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2272538	0.88[ASN][1000 genomes]
rs2285412	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2285418	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56185035	0.94[ASN][1000 genomes]
rs57095084	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7252115	0.88[ASN][1000 genomes]
rs7252341	0.82[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	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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 miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv911629	chr19:36122886-36136449	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 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	chr19:36120600-36129800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:36120800-36129600	Strong transcription	Skeletal Muscle Male	skeletal muscle
3	chr19:36120800-36132400	Weak transcription	Fetal Heart	heart
4	chr19:36120800-36134000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:36121000-36129600	Strong transcription	Fetal Stomach	stomach
6	chr19:36121200-36129200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr19:36121200-36129200	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr19:36121200-36129400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr19:36121200-36129400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr19:36121200-36129400	Strong transcription	Liver	Liver
11	chr19:36121200-36129600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:36121200-36129600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:36121200-36129600	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr19:36121200-36129600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:36121200-36129600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:36121200-36129600	Strong transcription	Fetal Thymus	thymus
17	chr19:36121400-36129200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr19:36121400-36129200	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr19:36121400-36129200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr19:36121400-36129400	Strong transcription	Fetal Muscle Leg	muscle
21	chr19:36121400-36129600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr19:36121400-36129600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:36121400-36129600	Strong transcription	Fetal Intestine Large	intestine
24	chr19:36121400-36129600	Strong transcription	Fetal Intestine Small	intestine
25	chr19:36121600-36129200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr19:36121600-36129200	Strong transcription	Ovary	ovary
27	chr19:36121600-36129200	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr19:36121600-36129400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:36121600-36129400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr19:36121600-36129400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr19:36121600-36129400	Strong transcription	Primary B cells from peripheral blood	blood
32	chr19:36121600-36129400	Strong transcription	Primary T cells from cord blood	blood
33	chr19:36121600-36129400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr19:36121600-36129400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:36121600-36129400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:36121600-36129400	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr19:36121600-36129400	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr19:36121600-36129400	Strong transcription	Left Ventricle	heart
39	chr19:36121600-36129400	Strong transcription	Stomach Smooth Muscle	stomach
40	chr19:36121600-36129400	Strong transcription	HepG2	liver
41	chr19:36121600-36129400	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr19:36121600-36129400	Strong transcription	NHLF	lung
43	chr19:36121600-36129600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr19:36121600-36129600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:36121600-36129600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:36121600-36129600	Strong transcription	Brain Anterior Caudate	brain
47	chr19:36121600-36129600	Strong transcription	Brain Hippocampus Middle	brain
48	chr19:36121600-36129600	Strong transcription	Thymus	Thymus
49	chr19:36121600-36129600	Strong transcription	GM12878-XiMat	blood
50	chr19:36121800-36129200	Strong transcription	H1 Cell Line	embryonic stem cell

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