Variant report

Variant	esv2763197
Chromosome Location	chr19:21014999-21042459
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr19:21032836-21033000	GM12878	blood:	n/a	chr19:21032899-21032910 chr19:21032904-21032914
2	BATF	chr19:21032838-21032997	GM12878	blood:	n/a	chr19:21032899-21032910 chr19:21032904-21032914
3	CHD1	chr19:21041146-21041568	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr19:21031926-21031979	GM13976	blood:	n/a	n/a
5	CTCF	chr19:21039315-21039388	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr19:21022916-21022919	Medullo	brain:	n/a	n/a
7	CTCF	chr19:21026021-21026075	GM20000	blood:	n/a	n/a
8	CTCF	chr19:21032872-21032964	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr19:21032029-21032088	LNCaP	prostate:	n/a	n/a
10	E2F6	chr19:21041471-21041940	H1-hESC	embryonic stem cell:	n/a	n/a
11	EGR1	chr19:21041677-21041986	H1-hESC	embryonic stem cell:	n/a	n/a
12	EP300	chr19:21041097-21041449	H1-hESC	embryonic stem cell:	n/a	n/a
13	FOS	chr19:21023243-21023537	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr19:21023327-21023443	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr19:21023158-21023570	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr19:21023226-21023558	MCF10A-Er-Src	breast:	n/a	n/a
17	FOXA2	chr19:21024085-21024489	A549	lung:	n/a	n/a
18	GTF2F1	chr19:21041381-21041388	H1-hESC	embryonic stem cell:	n/a	n/a
19	GTF2F1	chr19:21040910-21041110	H1-hESC	embryonic stem cell:	n/a	n/a
20	GTF2F1	chr19:21041637-21041888	H1-hESC	embryonic stem cell:	n/a	n/a
21	JUND	chr19:21041092-21041512	H1-hESC	embryonic stem cell:	n/a	n/a
22	JUND	chr19:21023253-21023472	HepG2	liver:	n/a	chr19:21023345-21023356 chr19:21023398-21023409
23	JUND	chr19:21041810-21041944	H1-hESC	embryonic stem cell:	n/a	n/a
24	KAT2A	chr19:21037090-21037456	GM12878	blood:	n/a	n/a
25	MAFF	chr19:21016269-21016491	HepG2	liver:	n/a	n/a
26	MAFK	chr19:21016241-21016496	IMR90	lung:	n/a	n/a
27	MAFK	chr19:21016210-21016514	HepG2	liver:	n/a	n/a
28	MAFK	chr19:21016258-21016482	HepG2	liver:	n/a	n/a
29	MAX	chr19:21041708-21042025	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr19:21041676-21041962	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr19:21040951-21041254	H1-hESC	embryonic stem cell:	n/a	n/a
32	MXI1	chr19:21041034-21041055	H1-hESC	embryonic stem cell:	n/a	n/a
33	MYC	chr19:21035245-21035274	MCF-7	breast:	n/a	n/a
34	POLR2A	chr19:21023150-21023169	MCF-7	breast:	n/a	n/a
35	POLR2A	chr19:21033413-21033519	K562	blood:	n/a	n/a
36	POLR2A	chr19:21019558-21019573	MCF-7	breast:	n/a	n/a
37	POLR2A	chr19:21015149-21015220	GM12878	blood:	n/a	n/a
38	POLR2A	chr19:21041770-21042082	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr19:21041772-21041956	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr19:21041082-21041257	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr19:21041700-21041999	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr19:21019473-21019536	MCF-7	breast:	n/a	n/a
43	POLR2A	chr19:21023171-21023223	MCF-7	breast:	n/a	n/a
44	POLR2A	chr19:21023232-21023241	MCF-7	breast:	n/a	n/a
45	POLR2A	chr19:21018067-21018164	Gliobla	brain:	n/a	n/a
46	RAD21	chr19:21041720-21042080	H1-hESC	embryonic stem cell:	n/a	n/a
47	RAD21	chr19:21041626-21042080	H1-hESC	embryonic stem cell:	n/a	n/a
48	RAD21	chr19:21041711-21041978	H1-hESC	embryonic stem cell:	n/a	n/a
49	SP1	chr19:21041549-21042003	H1-hESC	embryonic stem cell:	n/a	chr19:21041842-21041853
50	SP1	chr19:21041572-21042062	H1-hESC	embryonic stem cell:	n/a	chr19:21041842-21041853

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF626-4	chr19:21022210-21022336	NONHSAT063675
2	lnc-ZNF626-4	chr19:21021321-21021373	NONHSAT063675
3	lnc-ZNF626-4	chr19:21030087-21030223	NONHSAT063675

No data

Variant related genes	Relation type
ENSG00000269373	TF binding region

Extended variants
information (count: 760 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:760 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs431157	chr19:21014999-21015000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189977310	chr19:21015005-21015006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575734852	chr19:21015016-21015017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367380	chr19:21015017-21015018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs444905	chr19:21015036-21015037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs62125655	chr19:21015096-21015097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547028802	chr19:21015116-21015117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560662066	chr19:21015122-21015123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3867196	chr19:21015133-21015134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs443899	chr19:21015169-21015170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs569347074	chr19:21015211-21015212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537971009	chr19:21015227-21015228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182559635	chr19:21015241-21015242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571581346	chr19:21015242-21015243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187215757	chr19:21015251-21015252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144849301	chr19:21015254-21015255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79874520	chr19:21015257-21015258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553691775	chr19:21015260-21015261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117387335	chr19:21015300-21015301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs118179307	chr19:21015314-21015315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547328493	chr19:21015381-21015382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112818288	chr19:21015409-21015410	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs138661792	chr19:21015410-21015411	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs192294780	chr19:21015417-21015418	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs558501070	chr19:21015436-21015437	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs571989338	chr19:21015454-21015455	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs373080341	chr19:21015455-21015456	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs185661191	chr19:21015476-21015477	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs188919555	chr19:21015479-21015480	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs560723096	chr19:21015481-21015482	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs529637742	chr19:21015548-21015549	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs5827484	chr19:21015550-21015551	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs201952461	chr19:21015551-21015552	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs543210236	chr19:21015560-21015561	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs563111132	chr19:21015574-21015575	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs529238617	chr19:21015661-21015662	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs532718583	chr19:21015684-21015685	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs35900529	chr19:21015700-21015701	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs4026042	chr19:21015701-21015702	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs374514616	chr19:21015704-21015705	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs531809553	chr19:21015724-21015725	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs376321094	chr19:21015758-21015759	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs571605648	chr19:21015762-21015763	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs192651451	chr19:21015771-21015772	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs184183285	chr19:21015825-21015826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550519860	chr19:21015849-21015850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188339405	chr19:21015883-21015884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11668102	chr19:21015908-21015909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs555922123	chr19:21015914-21015915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs378757	chr19:21015915-21015916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:42)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21009200-21021600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:21015400-21015800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:21016400-21017800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
4	chr19:21019000-21020000	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:21019200-21020000	ZNF genes & repeats	Ovary	ovary
6	chr19:21019200-21020200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr19:21019400-21024800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:21019600-21020200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:21020000-21021600	Weak transcription	Ovary	ovary
10	chr19:21020800-21024200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:21021000-21021400	ZNF genes & repeats	Fetal Brain Female	brain
12	chr19:21021600-21021800	ZNF genes & repeats	Ovary	ovary
13	chr19:21022400-21024000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
14	chr19:21022600-21023400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr19:21022600-21024000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:21022800-21024000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:21023000-21023200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr19:21023000-21023600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr19:21029800-21031000	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr19:21035200-21036000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
21	chr19:21040600-21040800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr19:21040800-21041200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
23	chr19:21040800-21042000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr19:21041200-21042000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr19:21042200-21042600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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