Variant report

Variant	esv3434817
Chromosome Location	chr19:21681307-21684752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:21680932-21681532	IMR90	lung:	n/a	n/a
2	CEBPB	chr19:21680910-21681535	A549	lung:	n/a	n/a
3	CEBPB	chr19:21681313-21681520	K562	blood:	n/a	n/a
4	CEBPB	chr19:21680968-21681363	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr19:21680943-21681535	HepG2	liver:	n/a	n/a
6	CEBPB	chr19:21684285-21684374	HepG2	liver:	n/a	n/a
7	FOS	chr19:21680970-21681365	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr19:21681165-21681366	MCF10A-Er-Src	breast:	n/a	n/a
9	JUND	chr19:21681141-21681476	HepG2	liver:	n/a	n/a
10	MAX	chr19:21684454-21684507	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21680381..21683042-chr19:21685996..21688688,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF429-1	chr19:21681001-21682100	ENSG00000248094
2	lnc-ZNF429-1	chr19:21681001-21681786	NONHSAT063714
3	lnc-ZNF429-1	chr19:21681001-21682695	NONHSAT063711
4	lnc-ZNF429-1	chr19:21681001-21682695	NONHSAT063715
5	lnc-ZNF429-1	chr19:21681001-21682100	ENSG00000268658.1

No data

Variant related genes	Relation type
ZNF429	TF binding region
ENSG00000197013	chromatin interactions
C2orf42	miRNA target sites

Extended variants
information (count: 138 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531574852	chr19:21681419-21681420	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs145928377	chr19:21681442-21681443	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs561314299	chr19:21681449-21681450	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs188719564	chr19:21681478-21681479	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs547060374	chr19:21681491-21681492	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs117891518	chr19:21681504-21681505	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs2650799	chr19:21681569-21681570	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs138757488	chr19:21681573-21681574	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs74608025	chr19:21681575-21681576	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs113729778	chr19:21681653-21681654	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs536572872	chr19:21681707-21681708	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs548632842	chr19:21681710-21681711	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs567239615	chr19:21681741-21681742	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs534363437	chr19:21681754-21681755	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs552983730	chr19:21681771-21681772	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs11666680	chr19:21681788-21681789	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs142738434	chr19:21681803-21681804	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs547634295	chr19:21681820-21681821	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs566773404	chr19:21681833-21681834	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs369437850	chr19:21681862-21681863	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs73546778	chr19:21681944-21681945	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs575538580	chr19:21681980-21681981	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs542891322	chr19:21681987-21681988	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs549245001	chr19:21681991-21681992	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs193059663	chr19:21682028-21682029	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs569000725	chr19:21682050-21682051	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs9304986	chr19:21682062-21682063	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs565340188	chr19:21682111-21682112	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs531683342	chr19:21682125-21682126	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs532486054	chr19:21682198-21682199	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs550736827	chr19:21682228-21682229	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs550220051	chr19:21682234-21682235	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs184237591	chr19:21682249-21682250	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs571732949	chr19:21682250-21682251	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs9304987	chr19:21682274-21682275	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs577776350	chr19:21682284-21682285	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs567053156	chr19:21682345-21682346	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs147358892	chr19:21682422-21682423	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs139003825	chr19:21682431-21682432	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs571333978	chr19:21682451-21682452	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs538715342	chr19:21682512-21682513	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs149643460	chr19:21682521-21682522	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs144366475	chr19:21682560-21682561	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs78852327	chr19:21682563-21682564	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs536102538	chr19:21682585-21682586	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs554803644	chr19:21682665-21682666	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs71309634	chr19:21682697-21682698	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs375462115	chr19:21682698-21682699	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs71176887	chr19:21682701-21682702	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs78095456	chr19:21682721-21682722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:38)

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

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21658200-21687800	Weak transcription	Brain Substantia Nigra	brain
2	chr19:21666800-21687600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:21669000-21687600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr19:21669800-21681800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:21672200-21681800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr19:21673400-21687800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr19:21674800-21687800	Weak transcription	Brain Hippocampus Middle	brain
8	chr19:21675800-21681800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr19:21675800-21687200	Weak transcription	Primary T cells from cord blood	blood
10	chr19:21676000-21688000	Weak transcription	Fetal Stomach	stomach
11	chr19:21678000-21688000	Weak transcription	Thymus	Thymus
12	chr19:21678200-21684000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr19:21679200-21688200	Weak transcription	Brain Angular Gyrus	brain
14	chr19:21679600-21681800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr19:21680000-21687800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:21680000-21688200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:21680200-21687600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:21680200-21688200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr19:21680600-21683400	Weak transcription	Fetal Intestine Large	intestine
20	chr19:21680800-21681400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr19:21681000-21681600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
22	chr19:21681000-21681800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr19:21681200-21688400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:21681400-21688200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr19:21681600-21688200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr19:21681800-21687600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr19:21681800-21688000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr19:21681800-21688000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr19:21681800-21688200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr19:21681800-21688400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:21683400-21683800	Enhancers	Fetal Intestine Large	intestine
32	chr19:21683800-21688000	Weak transcription	Fetal Intestine Large	intestine

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