Variant report

Variant	rs11880622
Chromosome Location	chr19:19018358-19018359
allele	A/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:7)
LncRNA
region (count:1)
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	chr19:19015110-19018951	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:19015099-19019155	HL-60	blood:	n/a	n/a
3	POLR2A	chr19:19017376-19018900	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:19018124-19018454	GM12878	blood:	n/a	n/a
5	HMGN3	chr19:19018123-19018440	K562	blood:	n/a	n/a
6	POLR2A	chr19:19014963-19018658	GM12892	blood:	n/a	n/a
7	POLR2A	chr19:19015125-19019092	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:19018324-19018958	K562	blood:	n/a	n/a
9	POLR2A	chr19:19016142-19018923	GM12892	blood:	n/a	n/a
10	POLR2A	chr19:19018135-19018812	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr19:19015074-19019042	HepG2	liver:	n/a	n/a
12	POLR2A	chr19:19013616-19018893	K562	blood:	n/a	n/a
13	POLR2A	chr19:19015383-19018936	GM12891	blood:	n/a	n/a
14	POLR2A	chr19:19017520-19018411	HL-60	blood:	n/a	n/a
15	POLR2A	chr19:19015068-19018608	GM12891	blood:	n/a	n/a
16	POLR2A	chr19:19017741-19018613	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr19:19015131-19019150	GM12892	blood:	n/a	n/a
18	POLR2A	chr19:19017905-19018638	HepG2	liver:	n/a	n/a
19	POLR2A	chr19:19015119-19018797	K562	blood:	n/a	n/a
20	POLR2A	chr19:19018246-19018705	GM12891	blood:	n/a	n/a
21	CCNT2	chr19:19018221-19018397	K562	blood:	n/a	n/a
22	POLR2A	chr19:19015725-19018609	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:19005474..19008347-chr19:19018316..19020974,2	MCF-7	breast:
2	chr19:19003756..19013137-chr19:19015458..19020402,12	K562	blood:
3	chr19:19017980..19019625-chr19:19028606..19030328,2	K562	blood:
4	chr19:19008209..19011706-chr19:19016535..19019797,4	MCF-7	breast:
5	chr19:19017910..19020342-chr19:19048888..19050940,2	K562	blood:
6	chr19:19017449..19020202-chr19:19023767..19026462,3	K562	blood:
7	chr19:19014514..19025012-chr19:19028545..19031608,12	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DDX49-1	chr19:19017011-19018999	ENSG00000248819

No data

Variant related genes	Relation type
COPE	TF binding region
ENSG00000223802	Chromatin interaction
ENSG00000130283	Chromatin interaction
ENSG00000051128	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000105671	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10164368	0.94[AFR][1000 genomes]
rs10425520	1.00[AMR][1000 genomes]
rs28635727	0.94[AFR][1000 genomes]
rs4808920	1.00[AMR][1000 genomes]

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	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
11	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19006600-19027800	Weak transcription	NHDF-Ad	bronchial
2	chr19:19006600-19029000	Weak transcription	Fetal Kidney	kidney
3	chr19:19007000-19029000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:19007400-19025400	Weak transcription	NH-A	brain
5	chr19:19007400-19026000	Weak transcription	A549	lung
6	chr19:19007400-19027800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:19007600-19018600	Weak transcription	HMEC	breast
8	chr19:19007600-19028600	Weak transcription	Right Atrium	heart
9	chr19:19008200-19026000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:19008400-19018600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr19:19008800-19024200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr19:19009200-19026800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr19:19009400-19024000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:19009400-19027200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr19:19009600-19022200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr19:19009600-19022600	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr19:19009600-19022600	Strong transcription	Stomach Smooth Muscle	stomach
18	chr19:19009600-19026400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:19009600-19026400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:19009600-19026800	Strong transcription	Fetal Brain Female	brain
21	chr19:19009600-19029200	Weak transcription	Psoas Muscle	Psoas
22	chr19:19009800-19020400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr19:19009800-19022600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:19009800-19022600	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr19:19009800-19026800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:19009800-19026800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr19:19009800-19026800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr19:19009800-19026800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr19:19009800-19028000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:19010000-19022200	Strong transcription	Pancreas	Pancrea
31	chr19:19010000-19022400	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr19:19010000-19022600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr19:19010000-19026800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:19010000-19026800	Strong transcription	Fetal Intestine Small	intestine
35	chr19:19010000-19026800	Strong transcription	Placenta	Placenta
36	chr19:19010200-19026200	Strong transcription	Liver	Liver
37	chr19:19010200-19026200	Strong transcription	Duodenum Mucosa	Duodenum
38	chr19:19010200-19026600	Weak transcription	Hela-S3	cervix
39	chr19:19010400-19022200	Strong transcription	Ovary	ovary
40	chr19:19010600-19022000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr19:19010600-19026400	Strong transcription	Fetal Muscle Leg	muscle
42	chr19:19010800-19026400	Strong transcription	Fetal Muscle Trunk	muscle
43	chr19:19011000-19024400	Strong transcription	Fetal Lung	lung
44	chr19:19012600-19020800	Weak transcription	Primary B cells from cord blood	blood
45	chr19:19012600-19021800	Weak transcription	K562	blood
46	chr19:19012600-19028000	Strong transcription	Fetal Stomach	stomach
47	chr19:19013400-19020200	Strong transcription	Aorta	Aorta
48	chr19:19013400-19021800	Strong transcription	Gastric	stomach
49	chr19:19013400-19022400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr19:19013400-19022400	Strong transcription	Esophagus	oesophagus

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