Variant report

Variant	esv14673
Chromosome Location	chr19:21753553-21761244
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:3)
LncRNA
region (count:4)
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	ARID3A	chr19:21756597-21757002	K562	blood:	n/a	n/a
2	ATF1	chr19:21756594-21757067	K562	blood:	n/a	n/a
3	ATF3	chr19:21756520-21757045	K562	blood:	n/a	n/a
4	BHLHE40	chr19:21756673-21757583	K562	blood:	n/a	n/a
5	CBX3	chr19:21756514-21757083	K562	blood:	n/a	n/a
6	CEBPB	chr19:21756603-21757299	K562	blood:	n/a	n/a
7	CEBPB	chr19:21759510-21759606	K562	blood:	n/a	n/a
8	CEBPB	chr19:21756463-21757311	K562	blood:	n/a	n/a
9	CEBPB	chr19:21756680-21757218	K562	blood:	n/a	n/a
10	CREB1	chr19:21756465-21757280	K562	blood:	n/a	n/a
11	CREB1	chr19:21756576-21757234	K562	blood:	n/a	n/a
12	CTCF	chr19:21753960-21754110	GM12865	blood:	n/a	n/a
13	CTCF	chr19:21757218-21757312	Lung_OC	lung:	n/a	n/a
14	CUX1	chr19:21759134-21759150	GM12878	blood:	n/a	n/a
15	CUX1	chr19:21756568-21756943	K562	blood:	n/a	n/a
16	EGR1	chr19:21756687-21757036	K562	blood:	n/a	n/a
17	EGR1	chr19:21756699-21757045	K562	blood:	n/a	n/a
18	EP300	chr19:21756584-21757170	K562	blood:	n/a	n/a
19	FOSL1	chr19:21756681-21757013	K562	blood:	n/a	chr19:21756822-21756833
20	FOSL1	chr19:21756741-21757060	K562	blood:	n/a	chr19:21756822-21756833
21	HCFC1	chr19:21756670-21757018	K562	blood:	n/a	n/a
22	IRF1	chr19:21756643-21757004	K562	blood:	n/a	n/a
23	IRF1	chr19:21757706-21757716	K562	blood:	n/a	n/a
24	JUN	chr19:21757506-21757726	HepG2	liver:	n/a	chr19:21757615-21757628
25	JUN	chr19:21756635-21757045	K562	blood:	n/a	n/a
26	JUN	chr19:21756402-21757858	K562	blood:	n/a	chr19:21757615-21757628
27	JUN	chr19:21756636-21757082	K562	blood:	n/a	n/a
28	JUN	chr19:21755367-21755523	HepG2	liver:	n/a	chr19:21755447-21755460
29	JUN	chr19:21756642-21756999	K562	blood:	n/a	n/a
30	JUN	chr19:21756654-21756875	HepG2	liver:	n/a	n/a
31	JUN	chr19:21756645-21757073	K562	blood:	n/a	n/a
32	JUND	chr19:21755289-21755574	HepG2	liver:	n/a	n/a
33	JUND	chr19:21757443-21757767	HepG2	liver:	n/a	n/a
34	JUND	chr19:21756650-21756946	HepG2	liver:	n/a	chr19:21756822-21756833
35	JUND	chr19:21756547-21757438	K562	blood:	n/a	chr19:21756822-21756833
36	MAFF	chr19:21756642-21756954	K562	blood:	n/a	n/a
37	MAFK	chr19:21753996-21754009	K562	blood:	n/a	n/a
38	MAFK	chr19:21756634-21756959	K562	blood:	n/a	n/a
39	MAX	chr19:21756655-21757093	K562	blood:	n/a	n/a
40	MAZ	chr19:21756640-21757069	K562	blood:	n/a	n/a
41	MXI1	chr19:21756700-21756890	K562	blood:	n/a	n/a
42	MYC	chr19:21756635-21757024	K562	blood:	n/a	n/a
43	NFYB	chr19:21754902-21755156	K562	blood:	n/a	n/a
44	POLR2A	chr19:21759601-21759719	MCF-7	breast:	n/a	n/a
45	RCOR1	chr19:21756569-21757055	K562	blood:	n/a	n/a
46	RFX5	chr19:21757948-21758046	K562	blood:	n/a	n/a
47	STAT5A	chr19:21756625-21756980	K562	blood:	n/a	n/a
48	TAL1	chr19:21756742-21756928	K562	blood:	n/a	n/a
49	TBL1XR1	chr19:21756569-21757048	K562	blood:	n/a	n/a
50	TBL1XR1	chr19:21756792-21757020	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:21759399..21762531-chr19:21766206..21768542,3	K562	blood:
2	chr19:21757543..21760677-chr19:21760984..21764499,3	K562	blood:
3	chr19:21757543..21760677-chr19:21760984..21764499,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF100-2	chr19:21752904-21754341	NONHSAT063726
2	lnc-ZNF100-2	chr19:21753139-21754341	ENSG00000249473
3	lnc-ZNF100-2	chr19:21753624-21754341	ENSG00000268555.1
4	lnc-ZNF100-2	chr19:21754050-21754341	NONHSAT063727

No data

Variant related genes	Relation type
ENSG00000268081	TF binding region

Extended variants
information (count: 514 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:514 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117369961	chr19:21753564-21753565	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs544790201	chr19:21753570-21753571	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs12978060	chr19:21753607-21753608	Weak transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs8109940	chr19:21753622-21753623	Weak transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs11882885	chr19:21753626-21753627	Weak transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs549215318	chr19:21753650-21753651	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs35864944	chr19:21753653-21753654	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs112892223	chr19:21753664-21753665	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs138248211	chr19:21753666-21753667	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs547064913	chr19:21753669-21753670	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs571745281	chr19:21753670-21753671	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs539166458	chr19:21753677-21753678	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs10420580	chr19:21753703-21753704	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs11880052	chr19:21753753-21753754	Weak transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs191671833	chr19:21753765-21753766	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs11880057	chr19:21753811-21753812	Weak transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539679258	chr19:21753814-21753815	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs113948688	chr19:21753844-21753845	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs111658870	chr19:21753847-21753848	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs552585186	chr19:21753848-21753849	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs35577645	chr19:21753849-21753850	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs386807807	chr19:21753865-21753866	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs147030895	chr19:21753866-21753867	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs563244482	chr19:21753872-21753873	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs35789828	chr19:21753883-21753884	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs575358795	chr19:21753962-21753963	Weak transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs552628420	chr19:21753965-21753966	Weak transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs112462702	chr19:21753973-21753974	Weak transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs113283235	chr19:21753996-21753997	Weak transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs141314420	chr19:21754013-21754014	Weak transcription ZNF genes & repeats Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs369396041	chr19:21754014-21754015	Weak transcription ZNF genes & repeats Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs150774230	chr19:21754023-21754024	Weak transcription ZNF genes & repeats Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs375957988	chr19:21754038-21754039	Weak transcription ZNF genes & repeats Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs551047877	chr19:21754090-21754091	Weak transcription ZNF genes & repeats Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs111803442	chr19:21754127-21754128	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs564371175	chr19:21754128-21754129	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs576300117	chr19:21754132-21754133	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs573208034	chr19:21754146-21754147	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs536843058	chr19:21754158-21754159	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs139858348	chr19:21754187-21754188	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs143188767	chr19:21754192-21754193	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs534189335	chr19:21754198-21754199	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs112678245	chr19:21754217-21754218	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs113180581	chr19:21754240-21754241	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs113552950	chr19:21754248-21754249	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs557010612	chr19:21754267-21754268	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs575295925	chr19:21754273-21754274	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs542787405	chr19:21754281-21754282	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs554500116	chr19:21754283-21754284	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs573086617	chr19:21754291-21754292	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21752000-21769600	Weak transcription	Fetal Heart	heart
2	chr19:21752600-21753600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:21752600-21756600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr19:21752800-21754000	Weak transcription	Brain Germinal Matrix	brain
5	chr19:21752800-21754400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr19:21752800-21754600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr19:21752800-21755400	Weak transcription	Right Ventricle	heart
8	chr19:21752800-21755800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr19:21752800-21766200	Weak transcription	Fetal Intestine Large	intestine
10	chr19:21753000-21753600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr19:21753000-21768000	Weak transcription	Fetal Intestine Small	intestine
12	chr19:21753200-21754000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr19:21753200-21762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:21753400-21754600	Genic enhancers	Dnd41	blood
15	chr19:21753600-21756800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:21754000-21754400	ZNF genes & repeats	Brain Germinal Matrix	brain
17	chr19:21754600-21757800	Strong transcription	Dnd41	blood
18	chr19:21756400-21757600	Enhancers	K562	blood
19	chr19:21756600-21756800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
20	chr19:21756800-21757000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr19:21756800-21757000	ZNF genes & repeats	Pancreas	Pancrea
22	chr19:21756800-21757400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:21756800-21762400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr19:21757000-21764400	Weak transcription	Pancreas	Pancrea
25	chr19:21757400-21762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:21757800-21759400	Weak transcription	Dnd41	blood
27	chr19:21759400-21759600	Genic enhancers	Dnd41	blood
28	chr19:21759400-21764600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr19:21759600-21761200	Strong transcription	Dnd41	blood
30	chr19:21760200-21761000	Weak transcription	Primary T cells from cord blood	blood
31	chr19:21760200-21768000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:21760400-21769000	Weak transcription	Fetal Kidney	kidney
33	chr19:21761000-21761200	Enhancers	Primary T cells from cord blood	blood
34	chr19:21761200-21761400	Genic enhancers	Dnd41	blood
35	chr19:21761200-21762200	Weak transcription	Primary T cells from cord blood	blood

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