Variant report

Variant	esv2762027
Chromosome Location	chr19:21465718-21474111
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:21466337-21466380	LNCaP	prostate:	n/a	n/a
2	CUX1	chr19:21470369-21470374	GM12878	blood:	n/a	n/a
3	E2F4	chr19:21471980-21472180	MCF10A-Er-Src	breast:	n/a	n/a
4	GTF2F1	chr19:21466188-21466336	H1-hESC	embryonic stem cell:	n/a	n/a
5	GTF2F1	chr19:21467669-21467973	H1-hESC	embryonic stem cell:	n/a	n/a
6	GTF2F1	chr19:21467196-21467463	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAFK	chr19:21471272-21471352	HepG2	liver:	n/a	n/a
8	MAX	chr19:21471094-21471397	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr19:21470113-21470140	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr19:21466293-21466340	MCF-7	breast:	n/a	n/a
11	POLR2A	chr19:21466083-21466121	K562	blood:	n/a	n/a
12	POLR2A	chr19:21467490-21467604	MCF-7	breast:	n/a	n/a
13	POLR2A	chr19:21465426-21466059	MCF-7	breast:	n/a	n/a
14	POLR2A	chr19:21465809-21466035	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr19:21472414-21472661	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr19:21467286-21467295	MCF-7	breast:	n/a	n/a
17	POLR2A	chr19:21467105-21467724	GM12878	blood:	n/a	n/a
18	POLR2A	chr19:21468829-21469034	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:21469467-21469603	HepG2	liver:	n/a	n/a
20	POLR2A	chr19:21472851-21472990	HepG2	liver:	n/a	n/a
21	POLR2A	chr19:21472072-21472546	GM12878	blood:	n/a	n/a
22	POLR2A	chr19:21474098-21474186	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr19:21466509-21466580	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr19:21466046-21466077	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr19:21467311-21467381	MCF-7	breast:	n/a	n/a
26	POLR2A	chr19:21470476-21470593	K562	blood:	n/a	n/a
27	POLR2A	chr19:21465824-21465870	HepG2	liver:	n/a	n/a
28	POLR2A	chr19:21466479-21466652	MCF-7	breast:	n/a	n/a
29	POLR2A	chr19:21466174-21466197	MCF-7	breast:	n/a	n/a
30	POLR2A	chr19:21467406-21467430	MCF-7	breast:	n/a	n/a
31	POLR2A	chr19:21471963-21472224	HepG2	liver:	n/a	n/a
32	POLR2A	chr19:21469518-21469718	GM12878	blood:	n/a	n/a
33	POLR2A	chr19:21471927-21472801	K562	blood:	n/a	n/a
34	POLR2A	chr19:21465530-21466095	GM12878	blood:	n/a	n/a
35	POLR2A	chr19:21466540-21466804	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr19:21465654-21465808	HepG2	liver:	n/a	n/a
37	POLR2A	chr19:21468284-21468308	ProgFib	skin:	n/a	n/a
38	POLR2A	chr19:21468133-21468275	MCF-7	breast:	n/a	n/a
39	POLR2A	chr19:21465898-21466048	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr19:21466444-21466753	GM12878	blood:	n/a	n/a
41	POLR2A	chr19:21472892-21472903	MCF-7	breast:	n/a	n/a
42	POLR2A	chr19:21465977-21465993	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr19:21468385-21468387	MCF-7	breast:	n/a	n/a
44	POLR2A	chr19:21473902-21474309	GM12878	blood:	n/a	n/a
45	POLR2A	chr19:21468639-21468839	K562	blood:	n/a	n/a
46	SETDB1	chr19:21467008-21467467	U2OS	brain:	n/a	n/a
47	SPI1	chr19:21467674-21467978	HL-60	blood:	n/a	n/a
48	SPI1	chr19:21467682-21468014	HL-60	blood:	n/a	n/a
49	SRF	chr19:21473428-21473573	GM12878	blood:	n/a	n/a
50	SRF	chr19:21466241-21466359	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21462003..21463957-chr19:21465037..21467413,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF738-5	chr19:21469736-21469849	ucscGeneNc_uc002nqb_2
2	lnc-ZNF738-5	chr19:21468762-21468973	ucscGeneNc_uc002nqb_2
3	lnc-ZNF738-5	chr19:21471294-21471364	ucscGeneNc_uc002nqb_2
4	lnc-ZNF738-5	chr19:21472841-21472991	ucscGeneNc_uc002nqb_2
5	lnc-ZNF738-5	chr19:21465851-21465953	ucscGeneNc_uc002nqb_2
6	lnc-ZNF708-3	chr19:21473948-21474588	NONHSAT063696
7	lnc-ZNF738-5	chr19:21467908-21468489	ucscGeneNc_uc002nqb_2
8	lnc-ZNF708-4	chr19:21472356-21472800	NONHSAT063695

No data

Variant related genes	Relation type
VN1R83P	TF binding region

Extended variants
information (count: 310 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567200662	chr19:21465743-21465744	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs137906496	chr19:21465796-21465797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs552909515	chr19:21465798-21465799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs566338246	chr19:21465809-21465810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs279807	chr19:21465822-21465823	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs144055041	chr19:21465855-21465856	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
7	rs376952460	chr19:21465917-21465918	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
8	rs147329996	chr19:21465960-21465961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs180790627	chr19:21465981-21465982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs557122753	chr19:21465990-21465991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs560712824	chr19:21465995-21465996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs35804961	chr19:21466001-21466002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs10649900	chr19:21466026-21466027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs67425658	chr19:21466027-21466028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs376134889	chr19:21466028-21466029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs371046711	chr19:21466030-21466031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs555763451	chr19:21466070-21466071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs184942487	chr19:21466106-21466107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs539410823	chr19:21466110-21466111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs555029141	chr19:21466165-21466166	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs552863784	chr19:21466177-21466178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs572771081	chr19:21466212-21466213	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs200533017	chr19:21466215-21466216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs374275271	chr19:21466217-21466218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs568346809	chr19:21466248-21466249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs2997223	chr19:21466321-21466322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs189800959	chr19:21466398-21466399	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs371674709	chr19:21466421-21466422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs561528570	chr19:21466428-21466429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs575282345	chr19:21466436-21466437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs34486211	chr19:21466507-21466508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs544294190	chr19:21466519-21466520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs140888058	chr19:21466537-21466538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs201007296	chr19:21466562-21466563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs529490801	chr19:21466572-21466573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs546587176	chr19:21466721-21466722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs181106170	chr19:21466726-21466727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs144848425	chr19:21466801-21466802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs554655748	chr19:21466834-21466835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs548835911	chr19:21466844-21466845	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs568630998	chr19:21466848-21466849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs371163810	chr19:21466903-21466904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs537200942	chr19:21467024-21467025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs186387752	chr19:21467035-21467036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs570823052	chr19:21467043-21467044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs539466919	chr19:21467064-21467065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs1781866	chr19:21467084-21467085	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs191821850	chr19:21467120-21467121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs374270688	chr19:21467178-21467179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs144723176	chr19:21467199-21467200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21465000-21496000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:21465400-21484600	ZNF genes & repeats	Liver	Liver
3	chr19:21467000-21472800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr19:21467200-21470000	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:21467200-21489600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:21468000-21474200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:21468600-21472800	Weak transcription	Left Ventricle	heart
8	chr19:21469400-21470000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
9	chr19:21469400-21470000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr19:21469400-21472400	Weak transcription	HSMM	muscle
11	chr19:21469400-21474400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr19:21469800-21470000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:21469800-21470000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:21470000-21472800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr19:21470000-21474400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr19:21470000-21474400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:21470600-21484200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
18	chr19:21471200-21474200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr19:21471200-21474400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:21471200-21479800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr19:21471400-21473600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:21471600-21472600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:21471600-21474800	Weak transcription	Brain Germinal Matrix	brain
24	chr19:21471600-21479800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:21472000-21476400	Weak transcription	Osteobl	bone
26	chr19:21472000-21481800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:21472200-21474400	Weak transcription	NH-A	brain
28	chr19:21472200-21487600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:21472200-21490400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:21472400-21472600	ZNF genes & repeats	HSMMtube	muscle
31	chr19:21472400-21472800	ZNF genes & repeats	HSMM	muscle
32	chr19:21472400-21475200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr19:21472600-21472800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr19:21472600-21472800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr19:21472600-21472800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr19:21472600-21473000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr19:21472600-21473000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:21472600-21473200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
39	chr19:21472600-21474200	Weak transcription	HSMMtube	muscle
40	chr19:21472800-21473000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:21472800-21473000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
42	chr19:21472800-21473000	ZNF genes & repeats	Left Ventricle	heart
43	chr19:21472800-21474000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr19:21472800-21474200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr19:21472800-21475800	Weak transcription	HSMM	muscle
46	chr19:21473000-21473800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr19:21473000-21474400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr19:21473000-21474600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr19:21473000-21476200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr19:21473200-21475800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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