Variant report

Variant	rs2285598
Chromosome Location	chr19:36642554-36642555
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36642473-36642993	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr19:36641816-36643513	K562	blood:	n/a	n/a
3	POLR2A	chr19:36642149-36643066	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr19:36641838-36642690	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr19:36642115-36642640	GM12892	blood:	n/a	n/a
6	POLR2A	chr19:36642174-36642792	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr19:36641509-36643957	A549	lung:	n/a	n/a
8	POLR2A	chr19:36642554-36642806	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:36641896-36643007	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr19:36642536-36643295	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:36641205-36643390	K562	blood:	n/a	n/a
12	POLR2A	chr19:36641939-36642776	HepG2	liver:	n/a	n/a
13	POLR2A	chr19:36642036-36642603	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr19:36642512-36643885	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr19:36642051-36643464	K562	blood:	n/a	n/a
16	POLR2A	chr19:36641062-36644106	PANC-1	pancreas:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36630678..36632307-chr19:36642468..36644265,2	K562	blood:
2	chr19:36635447..36638773-chr19:36641889..36645478,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270760	TF binding region
ENSG00000126247	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12608775	0.91[ASN][1000 genomes]
rs57550607	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv911642	chr19:36620778-36651499	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv911643	chr19:36627790-36651499	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv911644	chr19:36628463-36643695	Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv911645	chr19:36628463-36651499	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv911646	chr19:36629631-36643695	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv911647	chr19:36629631-36651499	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr19:36632800-36643000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:36632800-36644400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:36632800-36645600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:36633000-36642600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:36633000-36642600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr19:36633000-36642600	Strong transcription	Duodenum Mucosa	Duodenum
7	chr19:36633000-36643000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr19:36633000-36643200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr19:36633000-36644800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr19:36633000-36645600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:36633000-36645600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr19:36633000-36645600	Strong transcription	A549	lung
13	chr19:36633200-36642600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:36633200-36642600	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr19:36633200-36642600	Strong transcription	Thymus	Thymus
16	chr19:36633200-36642800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr19:36633200-36642800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:36633200-36643000	Strong transcription	Liver	Liver
19	chr19:36633400-36643000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr19:36633400-36643000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:36633400-36643000	Strong transcription	HepG2	liver
22	chr19:36633400-36645000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr19:36633600-36642800	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr19:36635400-36642800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr19:36636000-36650400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr19:36637000-36642600	Strong transcription	Gastric	stomach
27	chr19:36638400-36661600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr19:36638600-36642600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:36639400-36643400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr19:36640400-36643200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
31	chr19:36640600-36652000	Weak transcription	K562	blood
32	chr19:36640800-36642600	Genic enhancers	Placenta	Placenta
33	chr19:36640800-36644000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr19:36641200-36643000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr19:36641400-36643200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr19:36641400-36652200	Weak transcription	GM12878-XiMat	blood
37	chr19:36641600-36642600	Genic enhancers	NHEK	skin
38	chr19:36641600-36642800	Weak transcription	Small Intestine	intestine
39	chr19:36641600-36643800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
40	chr19:36641600-36644000	Active TSS	Fetal Kidney	kidney
41	chr19:36641800-36642600	Weak transcription	Fetal Thymus	thymus
42	chr19:36641800-36642800	Weak transcription	HSMMtube	muscle
43	chr19:36641800-36643600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:36641800-36643600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr19:36641800-36643600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr19:36641800-36650600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr19:36641800-36652000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:36641800-36652000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:36642000-36642600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
50	chr19:36642000-36642600	Enhancers	Placenta Amnion	Placenta Amnion

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