Variant report

Variant	rs11547373
Chromosome Location	chr19:41306362-41306363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr19:41303652-41306370	A549	lung:	n/a	chr19:41304331-41304341 chr19:41305722-41305732 chr19:41304332-41304339 chr19:41306069-41306076
2	POLR2A	chr19:41303823-41306482	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr19:41306203-41307567	GM12878	blood:	n/a	n/a
4	SIX5	chr19:41305491-41306433	A549	lung:	n/a	n/a
5	POLR2A	chr19:41306285-41307414	A549	lung:	n/a	n/a
6	EBF1	chr19:41306272-41306621	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:41306228-41307418	A549	lung:	n/a	n/a
8	POLR2A	chr19:41306290-41306469	A549	lung:	n/a	n/a
9	MTA3	chr19:41305756-41306483	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:41306155-41306493	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr19:41306258-41307472	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:41306217-41307539	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr19:41305790-41307509	HL-60	blood:	n/a	n/a
14	POLR2A	chr19:41306243-41307476	GM12878	blood:	n/a	n/a
15	POLR2A	chr19:41306124-41307527	K562	blood:	n/a	n/a
16	ZNF263	chr19:41305481-41306664	HEK293-T-REx	kidney:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41280731..41296556-chr19:41299561..41307605,30	MCF-7	breast:
2	chr19:41187113..41189368-chr19:41304406..41306617,2	K562	blood:
3	chr19:41254487..41259247-chr19:41302579..41309995,18	K562	blood:
4	chr19:41266506..41270324-chr19:41304182..41308237,4	MCF-7	breast:
5	chr19:41281732..41286442-chr19:41302482..41306628,13	K562	blood:
6	chr19:41281718..41286533-chr19:41301356..41311124,20	K562	blood:
7	chr19:41221300..41223743-chr19:41303378..41306610,3	MCF-7	breast:
8	chr19:41220369..41226479-chr19:41305318..41310706,7	K562	blood:
9	chr19:41253776..41259894-chr19:41301950..41310086,19	MCF-7	breast:
10	chr19:41220238..41223312-chr19:41303618..41307521,4	K562	blood:
11	chr19:41283422..41285801-chr19:41305183..41308009,2	MCF-7	breast:
12	chr19:41253887..41263110-chr19:41303366..41316425,33	K562	blood:
13	chr19:41220057..41225402-chr19:41302090..41307926,9	MCF-7	breast:
14	chr19:41223981..41226562-chr19:41304181..41307698,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268797	TF binding region
EGLN2	TF binding region
ENSG00000105245	Chromatin interaction
ENSG00000261857	Chromatin interaction
ENSG00000086544	Chromatin interaction
ENSG00000188493	Chromatin interaction
ENSG00000167578	Chromatin interaction
ENSG00000077312	Chromatin interaction
ENSG00000171570	Chromatin interaction
ENSG00000123815	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12052092	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12151282	0.87[EUR][1000 genomes]
rs2305797	0.84[EUR][1000 genomes]
rs35061187	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35405967	0.88[ASN][1000 genomes]
rs35858034	0.85[EUR][1000 genomes]
rs3733829	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3736329	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3776611	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41530251	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4802090	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4802091	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4803369	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7245595	0.84[EUR][1000 genomes]
rs73048928	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758500	chr19:41291627-41546068	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2758762	chr19:41291627-41546068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41303800-41306400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr19:41303800-41306400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr19:41303800-41306600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr19:41304000-41306400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr19:41304000-41306400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr19:41304000-41306400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr19:41304000-41306400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:41304000-41306400	Active TSS	Fetal Kidney	kidney
9	chr19:41304000-41306400	Active TSS	HSMMtube	muscle
10	chr19:41304000-41306800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr19:41304200-41306400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr19:41304200-41306400	Active TSS	Colon Smooth Muscle	Colon
13	chr19:41304200-41306400	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr19:41304200-41306600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:41304200-41306600	Active TSS	Psoas Muscle	Psoas
16	chr19:41304200-41306600	Active TSS	NHDF-Ad	bronchial
17	chr19:41304400-41306400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:41304400-41306400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:41304400-41306400	Active TSS	Primary T cells from cord blood	blood
20	chr19:41304400-41306400	Active TSS	Small Intestine	intestine
21	chr19:41304400-41306400	Active TSS	HSMM	muscle
22	chr19:41305400-41306800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:41305400-41307000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:41305600-41306600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr19:41305600-41306800	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr19:41305800-41306400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr19:41305800-41306400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:41305800-41306400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:41305800-41306400	Flanking Active TSS	Fetal Lung	lung
30	chr19:41305800-41306400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr19:41305800-41306400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr19:41305800-41306600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr19:41305800-41306600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr19:41305800-41306800	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr19:41305800-41306800	Flanking Active TSS	Hela-S3	cervix
36	chr19:41305800-41307600	Flanking Active TSS	HUVEC	blood vessel
37	chr19:41305800-41309000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr19:41305800-41316200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr19:41306000-41306400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr19:41306000-41306400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:41306000-41306400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr19:41306000-41306400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr19:41306000-41306400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr19:41306000-41306400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:41306000-41306400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr19:41306000-41306400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr19:41306000-41306400	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr19:41306000-41306400	Flanking Active TSS	Liver	Liver
49	chr19:41306000-41306400	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr19:41306000-41306400	Flanking Active TSS	Fetal Muscle Leg	muscle

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