Variant report

Variant	rs55738552
Chromosome Location	chr19:19016748-19016749
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 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	chr19:19016329-19017416	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:19015131-19017370	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:19015099-19019155	HL-60	blood:	n/a	n/a
5	POLR2A	chr19:19016009-19016815	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr19:19015048-19018213	GM12891	blood:	n/a	n/a
7	POLR2A	chr19:19015984-19017483	K562	blood:	n/a	n/a
8	POLR2A	chr19:19014963-19018658	GM12892	blood:	n/a	n/a
9	POLR2A	chr19:19015125-19019092	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:19016142-19018923	GM12892	blood:	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	chr19:19016726-19016755	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr19:19015516-19017380	A549	lung:	n/a	n/a
16	POLR2A	chr19:19015068-19018608	GM12891	blood:	n/a	n/a
17	POLR2A	chr19:19016679-19016959	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr19:19016659-19016897	GM12891	blood:	n/a	n/a
19	POLR2A	chr19:19016008-19018254	K562	blood:	n/a	n/a
20	POLR2A	chr19:19015131-19019150	GM12892	blood:	n/a	n/a
21	POLR2A	chr19:19015119-19018797	K562	blood:	n/a	n/a
22	POLR2A	chr19:19015747-19017400	HL-60	blood:	n/a	n/a
23	POLR2A	chr19:19015725-19018609	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19003756..19013137-chr19:19015458..19020402,12	K562	blood:
2	chr19:19015729..19017809-chr19:19036062..19038418,2	K562	blood:
3	chr19:19014193..19017050-chr19:19024661..19026819,2	K562	blood:
4	chr19:19008209..19011706-chr19:19016535..19019797,4	MCF-7	breast:
5	chr19:19014514..19025012-chr19:19028545..19031608,12	MCF-7	breast:

No data

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

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2231992	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55801013	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56165767	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
12	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	chr19:19006800-19017800	Weak transcription	HUVEC	blood vessel
4	chr19:19007000-19029000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:19007400-19025400	Weak transcription	NH-A	brain
6	chr19:19007400-19026000	Weak transcription	A549	lung
7	chr19:19007400-19027800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr19:19007600-19017000	Weak transcription	Brain Angular Gyrus	brain
9	chr19:19007600-19018200	Weak transcription	HSMM	muscle
10	chr19:19007600-19018600	Weak transcription	HMEC	breast
11	chr19:19007600-19028600	Weak transcription	Right Atrium	heart
12	chr19:19008200-19026000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:19008400-19017400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr19:19008400-19018600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr19:19008800-19024200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:19009200-19026800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr19:19009400-19024000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:19009400-19027200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr19:19009600-19016800	Weak transcription	HepG2	liver
20	chr19:19009600-19017000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:19009600-19022200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr19:19009600-19022600	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr19:19009600-19022600	Strong transcription	Stomach Smooth Muscle	stomach
24	chr19:19009600-19026400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr19:19009600-19026400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:19009600-19026800	Strong transcription	Fetal Brain Female	brain
27	chr19:19009600-19029200	Weak transcription	Psoas Muscle	Psoas
28	chr19:19009800-19020400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr19:19009800-19022600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:19009800-19022600	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr19:19009800-19026800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:19009800-19026800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr19:19009800-19026800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr19:19009800-19026800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr19:19009800-19028000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:19010000-19022200	Strong transcription	Pancreas	Pancrea
37	chr19:19010000-19022400	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr19:19010000-19022600	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr19:19010000-19026800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:19010000-19026800	Strong transcription	Fetal Intestine Small	intestine
41	chr19:19010000-19026800	Strong transcription	Placenta	Placenta
42	chr19:19010200-19017200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:19010200-19018000	Weak transcription	Stomach Mucosa	stomach
44	chr19:19010200-19018200	Strong transcription	Fetal Intestine Large	intestine
45	chr19:19010200-19026200	Strong transcription	Liver	Liver
46	chr19:19010200-19026200	Strong transcription	Duodenum Mucosa	Duodenum
47	chr19:19010200-19026600	Weak transcription	Hela-S3	cervix
48	chr19:19010400-19016800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr19:19010400-19022200	Strong transcription	Ovary	ovary
50	chr19:19010600-19022000	Strong transcription	Primary T cells fromperipheralblood	blood

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