Variant report

Variant	esv3319012
Chromosome Location	chr19:18495264-18495591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr19:18492693-18501831	HepG2	liver:	n/a	n/a
2	JUN	chr19:18495480-18495606	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr19:18492587-18501908	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:18495056-18501851	HepG2	liver:	n/a	n/a
5	POLR2A	chr19:18495091-18495279	HepG2	liver:	n/a	n/a
6	POLR2A	chr19:18495086-18501822	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18495567-18495617	HNPCEpiC	eye:	n/a
2	chr19:18495567-18495617	GM12878	blood:	n/a
3	chr19:18495567-18495617	GM12891	blood:	n/a
4	chr19:18495567-18495617	AG09319	gingival:	n/a
5	chr19:18495567-18495617	Caco-2	colon:	n/a
6	chr19:18495567-18495617	GM06990	blood:	n/a
7	chr19:18495567-18495617	MCF10A-Er-Src	breast:	n/a
8	chr19:18495567-18495617	Jurkat	blood:	n/a
9	chr19:18495567-18495617	CMK	blood:	n/a
10	chr19:18495567-18495617	HMEC	breast:	n/a
11	chr19:18495567-18495617	BJ	skin:	n/a
12	chr19:18495567-18495617	HUVEC	blood vessel:	n/a
13	chr19:18495567-18495617	PANC-1	pancreas:	n/a
14	chr19:18495567-18495617	HAEpiC	amniotic membrane:	n/a
15	chr19:18495567-18495617	K562	blood:	n/a
16	chr19:18495567-18495617	SKMC	muscle:	n/a
17	chr19:18495567-18495617	SK-N-SH_RA	brain:	n/a
18	chr19:18495567-18495617	MCF-7	breast:	n/a
19	chr19:18495567-18495617	ECC-1	luminal epithelium:	n/a
20	chr19:18495567-18495617	ProgFib	skin:	n/a
21	chr19:18495567-18495617	HRE	kidney:	n/a
22	chr19:18495567-18495617	BE2_C	brain:	n/a
23	chr19:18495567-18495617	HL-60	blood:	n/a
24	chr19:18495567-18495617	HEEpiC	esophagus:	n/a
25	chr19:18495567-18495617	HRCEpiC	kidney:	n/a
26	chr19:18495567-18495617	AoSMC	blood vessel:	n/a
27	chr19:18495567-18495617	GM19239	blood:	n/a
28	chr19:18495567-18495617	H1-hESC	embryonic stem cell:	embryo
29	chr19:18495567-18495617	ovcar-3	ovarian:	n/a
30	chr19:18495567-18495617	PFSK-1	brain:	n/a
31	chr19:18495567-18495617	IMR90	lung:	fetal
32	chr19:18495567-18495617	U87	brain:	n/a
33	chr19:18495567-18495617	SK-N-MC	brain:	n/a
34	chr19:18495567-18495617	AG04450	lung:	fetal
35	chr19:18495567-18495617	NB4	blood:	n/a
36	chr19:18495567-18495617	RPTEC	kidney:	n/a
37	chr19:18495567-18495617	NHDF-neo	bronchial:	n/a
38	chr19:18495567-18495617	HCPEpiC	choroid plexus:	n/a
39	chr19:18495567-18495617	GM12892	blood:	n/a
40	chr19:18495567-18495617	T-47D	breast:	n/a
41	chr19:18495567-18495617	HCT-116	colon:	n/a
42	chr19:18495567-18495617	AG09309	skin:	n/a
43	chr19:18495567-18495617	HCF	heart:	n/a
44	chr19:18495567-18495617	HCM	heart:	n/a
45	chr19:18495567-18495617	AG04449	skin:	fetal
46	chr19:18495567-18495617	HIPEpiC	eye:	n/a
47	chr19:18495567-18495617	HepG2	liver:	n/a
48	chr19:18495567-18495617	NHBE	bronchial:	n/a
49	chr19:18495567-18495617	NH-A	brain:	n/a
50	chr19:18495567-18495617	LNCaP	prostate:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18387676..18394344-chr19:18495021..18501696,25	K562	blood:
2	chr19:18495466..18501669-chr19:18543275..18549976,8	K562	blood:
3	chr19:18495538..18497928-chr19:18546871..18549099,2	MCF-7	breast:
4	chr19:18466669..18468716-chr19:18495556..18498014,2	MCF-7	breast:
5	chr19:18207159..18210021-chr19:18495217..18497699,3	K562	blood:
6	chr19:18448228..18453626-chr19:18495351..18501647,22	K562	blood:
7	chr19:18495232..18499014-chr19:18539147..18542857,5	K562	blood:
8	chr19:18495115..18497091-chr19:18555323..18558164,2	MCF-7	breast:
9	chr19:18495547..18503463-chr19:18525062..18531964,43	K562	blood:
10	chr19:18494076..18504244-chr19:18508099..18514509,16	MCF-7	breast:
11	chr19:18485469..18486180-chr19:18495013..18495548,2	K562	blood:
12	chr19:18493661..18496655-chr19:45595897..45597590,2	MCF-7	breast:
13	chr19:18387676..18394124-chr19:18495437..18503905,30	K562	blood:

No data

Variant related genes	Relation type
MIR3189	TF binding region
GDF15	TF binding region
MIR3189	CpG island
GDF15	CpG island
ENSG00000104866	chromatin interactions
ENSG00000130522	chromatin interactions
ENSG00000105656	chromatin interactions
ENSG00000267959	chromatin interactions
ENSG00000175489	chromatin interactions
ENSG00000130513	chromatin interactions
ENSG00000105655	chromatin interactions
ENSG00000130511	chromatin interactions
ENSG00000096996	chromatin interactions
ENSG00000130517	chromatin interactions
ENSG00000099308	chromatin interactions

Extended variants
information (count: 4 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535653724	chr19:18495277-18495278	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs12979706	chr19:18495424-18495425	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs62122430	chr19:18495510-18495511	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs36069597	chr19:18495565-18495566	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18485800-18496600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr19:18485800-18499000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:18486400-18496600	Weak transcription	Fetal Kidney	kidney
4	chr19:18488600-18496800	Enhancers	Placenta	Placenta
5	chr19:18490000-18496200	Weak transcription	Gastric	stomach
6	chr19:18491400-18495600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:18491400-18496200	Weak transcription	GM12878-XiMat	blood
8	chr19:18491400-18497400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:18491600-18495600	Weak transcription	NHEK	skin
10	chr19:18491600-18495800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:18491600-18496400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:18491600-18496400	Weak transcription	NHLF	lung
13	chr19:18491600-18497400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr19:18491800-18495800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:18491800-18496000	Weak transcription	HMEC	breast
16	chr19:18491800-18496200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr19:18491800-18496400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:18491800-18496400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr19:18491800-18496400	Weak transcription	NHDF-Ad	bronchial
20	chr19:18491800-18496600	Weak transcription	Osteobl	bone
21	chr19:18491800-18496800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:18491800-18496800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:18491800-18496800	Weak transcription	Colonic Mucosa	Colon
24	chr19:18491800-18496800	Weak transcription	Right Atrium	heart
25	chr19:18491800-18497000	Weak transcription	Lung	lung
26	chr19:18492000-18495400	Weak transcription	Hela-S3	cervix
27	chr19:18492000-18496200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr19:18492000-18498800	Weak transcription	Right Ventricle	heart
29	chr19:18493200-18495400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr19:18493600-18496400	Enhancers	K562	blood
31	chr19:18493800-18497600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:18494000-18496200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:18494000-18496400	Weak transcription	NH-A	brain
34	chr19:18494200-18495400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr19:18494200-18495800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr19:18494200-18495800	Weak transcription	Liver	Liver
37	chr19:18494200-18496000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr19:18494200-18496000	Weak transcription	Pancreas	Pancrea
39	chr19:18494200-18496200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:18494200-18496200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:18494200-18496200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:18494200-18496200	Weak transcription	Spleen	Spleen
43	chr19:18494200-18496400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr19:18494200-18496400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr19:18494200-18496600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr19:18494200-18496600	Weak transcription	HSMM	muscle
47	chr19:18494400-18496000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr19:18494800-18496200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr19:18494800-18496200	Weak transcription	A549	lung
50	chr19:18495000-18496800	Enhancers	Fetal Intestine Small	intestine

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