Variant report

Variant	rs59183353
Chromosome Location	chr19:55737357-55737358
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:55733276-55738529	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:55736518-55737685	K562	blood:	n/a	n/a
3	POLR2A	chr19:55736380-55738341	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr19:55736383-55741530	GM12892	blood:	n/a	n/a
5	POLR2A	chr19:55736364-55739717	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr19:55737274-55737590	GM12878	blood:	n/a	n/a
7	ZNF263	chr19:55735480-55737493	HEK293-T-REx	kidney:	n/a	chr19:55736036-55736045 chr19:55736932-55736953 chr19:55736888-55736909
8	POLR2A	chr19:55736578-55737987	A549	lung:	n/a	n/a
9	POLR2A	chr19:55736531-55737801	GM12891	blood:	n/a	n/a
10	POLR2A	chr19:55737051-55737448	HepG2	liver:	n/a	n/a
11	POLR2A	chr19:55736376-55738299	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr19:55736603-55737450	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr19:55733626-55741033	K562	blood:	n/a	n/a
14	USF2	chr19:55736776-55737890	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr19:55733813-55737396	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr19:55736578-55741731	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr19:55736479-55738146	HepG2	liver:	n/a	n/a
18	FOSL2	chr19:55734541-55737859	HepG2	liver:	n/a	n/a
19	POLR2A	chr19:55736425-55741635	K562	blood:	n/a	n/a
20	POLR2A	chr19:55736640-55738596	HepG2	liver:	n/a	n/a
21	POLR2A	chr19:55736406-55738214	GM12892	blood:	n/a	n/a
22	MTA3	chr19:55736609-55737429	GM12878	blood:	n/a	n/a
23	POLR2A	chr19:55736795-55737711	NB4	blood:	n/a	n/a
24	POLR2A	chr19:55736573-55737621	HepG2	liver:	n/a	n/a
25	CHD2	chr19:55737309-55737376	HepG2	liver:	n/a	n/a
26	POLR2A	chr19:55736631-55737834	GM12891	blood:	n/a	n/a
27	POLR2A	chr19:55736349-55738387	GM12878	blood:	n/a	n/a
28	POLR2A	chr19:55736615-55738248	GM12891	blood:	n/a	n/a
29	POLR2A	chr19:55737221-55737572	GM12878	blood:	n/a	n/a
30	POLR2A	chr19:55736540-55744341	HL-60	blood:	n/a	n/a
31	ESR1	chr19:55736851-55737392	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr19:55736585-55737662	GM12892	blood:	n/a	n/a
33	POLR2A	chr19:55736686-55737574	GM12878	blood:	n/a	n/a
34	POLR2A	chr19:55737355-55737448	A549	lung:	n/a	n/a
35	POLR2A	chr19:55731465-55741552	K562	blood:	n/a	n/a
36	POLR2A	chr19:55736671-55738346	U87	brain:	n/a	n/a
37	POLR2A	chr19:55737185-55737656	GM12891	blood:	n/a	n/a
38	POLR2A	chr19:55736512-55741497	HL-60	blood:	n/a	n/a
39	POLR2A	chr19:55736383-55738344	U87	brain:	n/a	n/a
40	POLR2A	chr19:55736559-55738273	K562	blood:	n/a	n/a
41	POLR2A	chr19:55737098-55737361	HCT-116	colon:	n/a	n/a
42	JUND	chr19:55737150-55737406	HepG2	liver:	n/a	chr19:55737286-55737297
43	POLR2A	chr19:55736464-55741608	GM12892	blood:	n/a	n/a
44	POLR2A	chr19:55736720-55738479	GM12878	blood:	n/a	n/a
45	POLR2A	chr19:55737319-55737516	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr19:55736698-55737821	PFSK-1	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55732279..55738678-chr19:55765531..55770516,7	K562	blood:
2	chr19:55736478..55738648-chr19:55750947..55753779,2	K562	blood:
3	chr19:55737210..55740229-chr19:55741126..55744249,3	MCF-7	breast:
4	chr19:55736940..55740249-chr19:55897225..55900387,3	K562	blood:
5	chr19:55736575..55738793-chr19:55769011..55771822,2	MCF-7	breast:
6	chr19:55736988..55739984-chr19:55743575..55745735,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269808	TF binding region
ENSG00000180089	Chromatin interaction
ENSG00000266462	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000108107	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs61734256	1.00[AMR][1000 genomes]
rs73607027	1.00[AMR][1000 genomes]
rs73621373	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912454	chr19:55725410-55783552	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
6	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 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	chr19:55728600-55737400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr19:55728600-55737600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:55728600-55740200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr19:55728600-55741200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:55728600-55742400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr19:55728800-55737400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:55728800-55737400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr19:55728800-55737400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr19:55728800-55737600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr19:55728800-55737800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr19:55728800-55738200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr19:55728800-55738400	Weak transcription	Fetal Heart	heart
13	chr19:55728800-55738400	Weak transcription	Osteobl	bone
14	chr19:55728800-55738600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr19:55728800-55739200	Weak transcription	Left Ventricle	heart
16	chr19:55728800-55739600	Weak transcription	GM12878-XiMat	blood
17	chr19:55728800-55740000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:55728800-55740600	Weak transcription	Small Intestine	intestine
19	chr19:55728800-55741000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr19:55728800-55742400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr19:55728800-55743800	Weak transcription	HSMM	muscle
22	chr19:55728800-55744000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:55728800-55745600	Weak transcription	HSMMtube	muscle
24	chr19:55728800-55747800	Weak transcription	Psoas Muscle	Psoas
25	chr19:55728800-55747800	Weak transcription	NH-A	brain
26	chr19:55729000-55737400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:55729000-55737400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr19:55729000-55737400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr19:55729000-55737800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:55729000-55737800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:55729000-55738000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr19:55729000-55738200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr19:55729000-55738200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr19:55729200-55738000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:55729200-55738400	Weak transcription	NHEK	skin
36	chr19:55729400-55737600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr19:55729400-55744000	Weak transcription	NHDF-Ad	bronchial
38	chr19:55729400-55766200	Weak transcription	Fetal Brain Male	brain
39	chr19:55729600-55737400	Weak transcription	Hela-S3	cervix
40	chr19:55730800-55744000	Weak transcription	Fetal Kidney	kidney
41	chr19:55732200-55737600	Weak transcription	Adipose Nuclei	Adipose
42	chr19:55732200-55737600	Weak transcription	Esophagus	oesophagus
43	chr19:55732200-55738000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr19:55732200-55738800	Weak transcription	Liver	Liver
45	chr19:55732400-55737400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr19:55732400-55737400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr19:55732400-55737400	Weak transcription	Fetal Muscle Leg	muscle
48	chr19:55732400-55739200	Weak transcription	Colon Smooth Muscle	Colon
49	chr19:55732600-55739800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr19:55732800-55737600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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