Variant report

Variant	rs566186549
Chromosome Location	chr19:19010293-19010294
allele	C/T
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:4)
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	chr19:19009067-19010565	K562	blood:	n/a	n/a
2	POLR2A	chr19:19008845-19010363	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:19010289-19010326	MCF-7	breast:	n/a	n/a
4	POLR2A	chr19:19009379-19010358	GM12892	blood:	n/a	n/a
5	POLR2A	chr19:19008885-19010322	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:19009244-19011075	GM12891	blood:	n/a	n/a
7	POLR2A	chr19:19008964-19011058	K562	blood:	n/a	n/a
8	POLR2A	chr19:19009289-19010337	A549	lung:	n/a	n/a
9	POLR2A	chr19:19008935-19012494	HepG2	liver:	n/a	n/a
10	POLR2A	chr19:19008989-19010421	GM12892	blood:	n/a	n/a
11	POLR2A	chr19:19009279-19010374	HL-60	blood:	n/a	n/a
12	POLR2A	chr19:19010076-19010329	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr19:19009304-19010335	GM12892	blood:	n/a	n/a
14	POLR2A	chr19:19008955-19010345	HL-60	blood:	n/a	n/a
15	POLR2A	chr19:19009340-19010357	GM12891	blood:	n/a	n/a
16	POLR2A	chr19:19009184-19010337	HepG2	liver:	n/a	n/a
17	POLR2A	chr19:19008876-19012538	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19008851..19010420-chr19:19035551..19037561,2	K562	blood:
2	chr19:18993425..18995899-chr19:19009767..19011976,2	K562	blood:
3	chr19:19010164..19011980-chr19:19023732..19025454,3	MCF-7	breast:
4	chr19:19009093..19010811-chr19:19050023..19052149,2	MCF-7	breast:

No data

Variant related genes	Relation type
CERS1	TF binding region
GDF1	TF binding region
ENSG00000223802	Chromatin interaction
ENSG00000269019	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000051128	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers 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	40 gene(s)	inside rSNPs	diseases
2	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911297	chr19:18928480-19077385	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911298	chr19:18928480-19093619	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv911300	chr19:18944025-19093619	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv470132	chr19:18964442-19054720	Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv911301	chr19:18994638-19077385	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv911302	chr19:18995201-19088981	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	esv1823390	chr19:19006569-19017777	Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv817819	chr19:19009470-19022204	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19006400-19011000	Weak transcription	Fetal Lung	lung
2	chr19:19006600-19016000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr19:19006600-19027800	Weak transcription	NHDF-Ad	bronchial
4	chr19:19006600-19029000	Weak transcription	Fetal Kidney	kidney
5	chr19:19006800-19011200	Weak transcription	Primary B cells from cord blood	blood
6	chr19:19006800-19017800	Weak transcription	HUVEC	blood vessel
7	chr19:19007000-19029000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:19007400-19025400	Weak transcription	NH-A	brain
9	chr19:19007400-19026000	Weak transcription	A549	lung
10	chr19:19007400-19027800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr19:19007600-19010400	Weak transcription	Ovary	ovary
12	chr19:19007600-19010800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr19:19007600-19015400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr19:19007600-19017000	Weak transcription	Brain Angular Gyrus	brain
15	chr19:19007600-19018200	Weak transcription	HSMM	muscle
16	chr19:19007600-19018600	Weak transcription	HMEC	breast
17	chr19:19007600-19028600	Weak transcription	Right Atrium	heart
18	chr19:19008000-19010600	Weak transcription	Brain Anterior Caudate	brain
19	chr19:19008000-19012400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:19008200-19016000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr19:19008200-19026000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr19:19008400-19011600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr19:19008400-19012000	Strong transcription	Fetal Stomach	stomach
24	chr19:19008400-19014000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:19008400-19014400	Weak transcription	NHEK	skin
26	chr19:19008400-19017400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:19008400-19018600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr19:19008600-19012200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr19:19008600-19014000	Weak transcription	Small Intestine	intestine
30	chr19:19008600-19015200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr19:19008800-19024200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr19:19009200-19010800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:19009200-19012400	Strong transcription	Right Ventricle	heart
34	chr19:19009200-19012600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr19:19009200-19026800	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr19:19009400-19012800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr19:19009400-19012800	Strong transcription	Brain Germinal Matrix	brain
38	chr19:19009400-19015400	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr19:19009400-19024000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr19:19009400-19027200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:19009600-19010400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr19:19009600-19010400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr19:19009600-19010400	Strong transcription	Thymus	Thymus
44	chr19:19009600-19010600	Genic enhancers	Fetal Muscle Leg	muscle
45	chr19:19009600-19010800	Genic enhancers	Fetal Muscle Trunk	muscle
46	chr19:19009600-19010800	Strong transcription	GM12878-XiMat	blood
47	chr19:19009600-19011600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr19:19009600-19012200	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr19:19009600-19012400	Strong transcription	Colonic Mucosa	Colon
50	chr19:19009600-19012400	ZNF genes & repeats	Lung	lung

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