Variant report

Variant	rs62126346
Chromosome Location	chr19:55771447-55771448
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:55769871-55771537	GM12892	blood:	n/a	n/a
2	POLR2A	chr19:55769949-55771495	K562	blood:	n/a	n/a
3	POLR2A	chr19:55769936-55771536	U87	brain:	n/a	n/a
4	CEBPB	chr19:55771212-55771461	K562	blood:	n/a	chr19:55771323-55771334
5	CEBPB	chr19:55771243-55771447	HepG2	liver:	n/a	chr19:55771323-55771334
6	POLR2A	chr19:55769645-55771461	GM18505	blood:	n/a	n/a
7	POLR2A	chr19:55769794-55771528	PANC-1	pancreas:	n/a	n/a
8	HEY1	chr19:55770647-55771478	K562	blood:	n/a	n/a
9	POLR2A	chr19:55769879-55771544	GM12878	blood:	n/a	n/a
10	HEY1	chr19:55770022-55771476	K562	blood:	n/a	chr19:55770411-55770426 chr19:55770602-55770617 chr19:55770413-55770428
11	POLR2A	chr19:55769983-55771457	MCF-7	breast:	n/a	n/a
12	POLR2A	chr19:55769905-55771648	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr19:55769600-55771470	HL-60	blood:	n/a	n/a
14	MAZ	chr19:55768682-55771570	IMR90	lung:	n/a	chr19:55770411-55770421 chr19:55769750-55769759
15	POLR2A	chr19:55770485-55771562	K562	blood:	n/a	n/a
16	JUN	chr19:55769568-55771494	K562	blood:	n/a	chr19:55769809-55769818 chr19:55770747-55770761 chr19:55770448-55770457 chr19:55770639-55770653 chr19:55769810-55769819
17	RCOR1	chr19:55768381-55771561	IMR90	lung:	n/a	n/a
18	PML	chr19:55769927-55771454	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:55769942-55771679	U87	brain:	n/a	n/a
20	MAX	chr19:55769864-55771632	K562	blood:	n/a	chr19:55770411-55770421
21	POLR2A	chr19:55769886-55771537	HCT-116	colon:	n/a	n/a
22	MYC	chr19:55770216-55771579	K562	blood:	n/a	chr19:55770411-55770421
23	POLR2A	chr19:55769489-55771613	K562	blood:	n/a	n/a
24	POLR2A	chr19:55770090-55771497	HCT-116	colon:	n/a	n/a
25	POLR2A	chr19:55769922-55771614	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr19:55769902-55771820	HepG2	liver:	n/a	n/a
27	POLR2A	chr19:55768457-55771612	K562	blood:	n/a	n/a
28	MYC	chr19:55770074-55771560	K562	blood:	n/a	chr19:55770411-55770421
29	CEBPB	chr19:55771186-55771491	IMR90	lung:	n/a	chr19:55771323-55771334

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55769670..55772442-chr19:55857047..55859778,2	K562	blood:
2	chr19:55771442..55773163-chr19:55870760..55872458,2	MCF-7	breast:
3	chr19:55769482..55772014-chr19:55910008..55913343,3	K562	blood:
4	chr19:55767441..55773483-chr19:55893952..55900251,14	MCF-7	breast:
5	chr19:55764902..55773441-chr19:55891413..55900303,21	K562	blood:
6	chr19:55770686..55772282-chr19:55848676..55850979,2	K562	blood:
7	chr19:55763551..55774813-chr19:55891413..55900376,23	K562	blood:
8	chr19:55767441..55772178-chr19:55789060..55793175,7	MCF-7	breast:
9	chr19:55659384..55662186-chr19:55768928..55771825,2	K562	blood:
10	chr19:55768870..55771541-chr19:55794018..55795820,2	MCF-7	breast:
11	chr19:55769739..55771684-chr19:55850814..55852866,2	MCF-7	breast:
12	chr19:55770528..55773508-chr19:55917890..55920089,4	MCF-7	breast:
13	chr19:55727159..55729586-chr19:55769569..55772417,4	MCF-7	breast:
14	chr19:55769552..55771558-chr19:55896824..55899608,3	MCF-7	breast:
15	chr19:55770876..55771527-chr6:26205546..26206487,2	Hela-S3	cervix:
16	chr19:55657829..55659690-chr19:55769331..55772164,2	K562	blood:
17	chr19:55767517..55772398-chr19:55789828..55793738,15	K562	blood:
18	chr19:55768444..55771983-chr19:55917721..55920953,5	K562	blood:
19	chr19:55724113..55730012-chr19:55766381..55773608,39	K562	blood:
20	chr19:55736575..55738793-chr19:55769011..55771822,2	MCF-7	breast:
21	chr19:55720878..55730679-chr19:55764402..55774570,47	K562	blood:
22	chr19:55769028..55772088-chr19:55788931..55793273,6	MCF-7	breast:
23	chr19:55768430..55771983-chr19:55917442..55920696,5	K562	blood:
24	chr19:55689704..55692023-chr19:55769514..55771598,2	K562	blood:
25	chr19:55684145..55687547-chr19:55770390..55772403,3	K562	blood:
26	chr19:55713511..55716413-chr19:55771406..55774193,2	MCF-7	breast:
27	chr19:55726024..55729916-chr19:55768850..55773519,13	MCF-7	breast:
28	chr19:55764275..55774774-chr19:55790059..55800763,24	K562	blood:
29	chr19:55770986..55773436-chr19:55865504..55867451,2	K562	blood:

No data

Variant related genes	Relation type
PPP6R1	TF binding region
ENSG00000160471	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000160469	Chromatin interaction
ENSG00000133247	Chromatin interaction
ENSG00000267093	Chromatin interaction
ENSG00000267706	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000267531	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000269808	Chromatin interaction
ENSG00000105048	Chromatin interaction
ENSG00000129990	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10411896	0.95[ASN][1000 genomes]
rs11665832	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11667472	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11669313	0.92[EUR][1000 genomes]
rs11672710	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11672774	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35159664	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3848610	0.92[EUR][1000 genomes]
rs62126347	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62126348	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62126352	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62126357	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6509938	0.94[EUR][1000 genomes]
rs7258327	0.88[EUR][1000 genomes]
rs8105032	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv912458	chr19:55763409-55823822	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55768400-55771800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr19:55769000-55771600	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr19:55770800-55771600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:55770800-55771600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr19:55770800-55772200	Flanking Active TSS	Hela-S3	cervix
6	chr19:55771000-55771600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:55771000-55771600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr19:55771000-55771600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:55771000-55771600	Enhancers	Fetal Brain Male	brain
10	chr19:55771000-55772000	Flanking Active TSS	GM12878-XiMat	blood
11	chr19:55771200-55771600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
12	chr19:55771200-55771600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:55771200-55771600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:55771200-55771600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:55771200-55771600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr19:55771200-55771600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr19:55771200-55771600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr19:55771200-55771600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:55771200-55771600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:55771200-55771600	Flanking Active TSS	Colon Smooth Muscle	Colon
21	chr19:55771200-55771600	Enhancers	Pancreas	Pancrea
22	chr19:55771200-55771600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr19:55771200-55771600	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr19:55771200-55771600	Enhancers	Spleen	Spleen
25	chr19:55771200-55771600	Flanking Active TSS	HepG2	liver
26	chr19:55771200-55771600	Flanking Active TSS	HSMMtube	muscle
27	chr19:55771200-55771600	Enhancers	HUVEC	blood vessel
28	chr19:55771200-55772000	Enhancers	Primary hematopoietic stem cells	blood
29	chr19:55771200-55772200	Enhancers	Primary B cells from cord blood	blood
30	chr19:55771200-55772200	Flanking Active TSS	Dnd41	blood
31	chr19:55771200-55776200	Weak transcription	Ovary	ovary
32	chr19:55771200-55776800	Weak transcription	Gastric	stomach
33	chr19:55771200-55777600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr19:55771400-55771600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr19:55771400-55771600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:55771400-55771600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:55771400-55771600	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr19:55771400-55771600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:55771400-55771600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr19:55771400-55771600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:55771400-55771600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr19:55771400-55771600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr19:55771400-55771600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr19:55771400-55771600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr19:55771400-55771600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:55771400-55771600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr19:55771400-55771600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr19:55771400-55771600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr19:55771400-55771600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr19:55771400-55771600	Enhancers	Adipose Nuclei	Adipose

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