Variant report

Variant	esv3335221
Chromosome Location	chr19:37262250-37262365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr19:37262281-37262587	GM12878	blood:	n/a	n/a
2	CBX3	chr19:37262090-37262932	K562	blood:	n/a	n/a
3	CHD2	chr19:37262267-37262818	K562	blood:	n/a	n/a
4	CHD2	chr19:37262031-37264331	H1-hESC	embryonic stem cell:	n/a	chr19:37263916-37263926 chr19:37263749-37263758
5	CHD2	chr19:37262268-37262644	GM12878	blood:	n/a	n/a
6	FOS	chr19:37262254-37262800	K562	blood:	n/a	n/a
7	FOSL2	chr19:37262179-37262571	HepG2	liver:	n/a	n/a
8	FOSL2	chr19:37262127-37262766	HepG2	liver:	n/a	n/a
9	FOXM1	chr19:37262065-37262953	GM12878	blood:	n/a	n/a
10	FOXM1	chr19:37262154-37262878	GM12878	blood:	n/a	n/a
11	GATA1	chr19:37261711-37264425	PBDE	blood:	n/a	chr19:37261876-37261892 chr19:37261876-37261892 chr19:37263962-37263971
12	GATA3	chr19:37262115-37262447	T-47D	breast:	n/a	n/a
13	HEY1	chr19:37262134-37263997	K562	blood:	n/a	n/a
14	HEY1	chr19:37262262-37263087	HepG2	liver:	n/a	n/a
15	IRF3	chr19:37262364-37262550	GM12878	blood:	n/a	n/a
16	IRF4	chr19:37262122-37262693	GM12878	blood:	n/a	n/a
17	JUND	chr19:37262205-37262584	HepG2	liver:	n/a	n/a
18	MAZ	chr19:37262184-37264352	IMR90	lung:	n/a	n/a
19	NFYA	chr19:37262148-37262745	K562	blood:	n/a	chr19:37262388-37262406 chr19:37262423-37262441
20	NFYB	chr19:37262038-37262776	GM12878	blood:	n/a	n/a
21	NFYB	chr19:37262100-37262775	K562	blood:	n/a	n/a
22	PAX5	chr19:37262087-37262675	GM12878	blood:	n/a	n/a
23	PAX5	chr19:37262186-37262736	GM12878	blood:	n/a	n/a
24	PBX3	chr19:37262226-37262589	GM12878	blood:	n/a	n/a
25	PBX3	chr19:37262284-37262539	GM12878	blood:	n/a	n/a
26	POLR2A	chr19:37262124-37263091	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr19:37261557-37264490	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr19:37262025-37264230	GM12892	blood:	n/a	n/a
29	POLR2A	chr19:37262170-37264080	K562	blood:	n/a	n/a
30	POLR2A	chr19:37262123-37263107	GM12878	blood:	n/a	n/a
31	POLR2A	chr19:37262128-37262973	PANC-1	pancreas:	n/a	n/a
32	POLR2A	chr19:37262102-37264491	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr19:37262051-37264279	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr19:37261736-37264347	GM12878	blood:	n/a	n/a
35	POLR2A	chr19:37262007-37262926	GM12892	blood:	n/a	n/a
36	POLR2A	chr19:37261729-37264342	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr19:37261889-37263903	GM12878	blood:	n/a	n/a
38	POLR2A	chr19:37261848-37264261	H1-hESC	embryonic stem cell:	n/a	n/a
39	POU2F2	chr19:37262054-37262909	GM12878	blood:	n/a	n/a
40	RCOR1	chr19:37262080-37263127	IMR90	lung:	n/a	n/a
41	SETDB1	chr19:37262175-37262342	U2OS	brain:	n/a	n/a
42	SIN3AK20	chr19:37262199-37262539	HepG2	liver:	n/a	n/a
43	SP1	chr19:37262051-37262711	GM12878	blood:	n/a	n/a
44	SP1	chr19:37262059-37262720	K562	blood:	n/a	n/a
45	SP1	chr19:37262042-37262753	GM12878	blood:	n/a	n/a
46	SP1	chr19:37262054-37262770	H1-hESC	embryonic stem cell:	n/a	n/a
47	SP1	chr19:37262162-37262637	HepG2	liver:	n/a	n/a
48	SP1	chr19:37262022-37262823	H1-hESC	embryonic stem cell:	n/a	n/a
49	SPI1	chr19:37262223-37262490	GM12878	blood:	n/a	n/a
50	SRF	chr19:37262333-37262826	H1-hESC	embryonic stem cell:	n/a	chr19:37262584-37262602

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:37255401..37258823-chr19:37260501..37263315,3	K562	blood:
2	chr19:37253172..37254822-chr19:37261292..37262895,2	K562	blood:
3	chr19:36869355..36872280-chr19:37261242..37264152,2	MCF-7	breast:
4	chr19:36979208..36981780-chr19:37261367..37264210,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267260	TF binding region
ENSG00000267363	chromatin interactions
ENSG00000186017	chromatin interactions
ENSG00000267309	chromatin interactions
ENSG00000142065	chromatin interactions

Extended variants
information (count: 6 )
Associated
traits (count: 57 )

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	rs576076509	chr19:37262259-37262260	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs543161788	chr19:37262260-37262261	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs564870661	chr19:37262261-37262262	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs576780122	chr19:37262262-37262263	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs536706540	chr19:37262284-37262285	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs11672521	chr19:37262319-37262320	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37234000-37262400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:37235200-37262400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:37253800-37262400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:37254600-37262400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:37255800-37262400	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr19:37259400-37262400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr19:37259600-37262400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr19:37260600-37262400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr19:37260600-37265200	ZNF genes & repeats	A549	lung
10	chr19:37261600-37262600	Active TSS	Fetal Brain Female	brain
11	chr19:37261600-37264400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:37261600-37264600	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr19:37261800-37262400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr19:37261800-37262400	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr19:37261800-37262400	Transcr. at gene 5' and 3'	Dnd41	blood
16	chr19:37261800-37262400	ZNF genes & repeats	GM12878-XiMat	blood
17	chr19:37261800-37262600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:37261800-37262600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr19:37261800-37262600	Active TSS	Muscle Satellite Cultured Cells	--
20	chr19:37261800-37262600	Active TSS	Fetal Muscle Trunk	muscle
21	chr19:37261800-37262600	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr19:37261800-37262800	Active TSS	Brain Cingulate Gyrus	brain
23	chr19:37261800-37262800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:37261800-37262800	Active TSS	Brain Substantia Nigra	brain
25	chr19:37261800-37262800	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr19:37261800-37262800	Active TSS	Rectal Smooth Muscle	rectum
27	chr19:37261800-37262800	Active TSS	NHEK	skin
28	chr19:37261800-37263000	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr19:37261800-37263600	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr19:37261800-37264200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr19:37261800-37264200	Active TSS	Fetal Kidney	kidney
32	chr19:37261800-37264200	Active TSS	Left Ventricle	heart
33	chr19:37261800-37264200	Active TSS	Ovary	ovary
34	chr19:37261800-37264200	Active TSS	Right Atrium	heart
35	chr19:37261800-37264200	Active TSS	Right Ventricle	heart
36	chr19:37261800-37264200	Active TSS	NH-A	brain
37	chr19:37261800-37264200	Active TSS	NHDF-Ad	bronchial
38	chr19:37261800-37264400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr19:37261800-37264600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr19:37261800-37264600	Active TSS	H9 Cell Line	embryonic stem cell
41	chr19:37261800-37264600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:37261800-37264600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr19:37261800-37264600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr19:37261800-37264600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr19:37261800-37264600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:37261800-37264600	ZNF genes & repeats	Fetal Brain Male	brain
47	chr19:37261800-37264600	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr19:37261800-37264600	Active TSS	HSMM	muscle
49	chr19:37261800-37264600	Active TSS	HSMMtube	muscle
50	chr19:37261800-37264600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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