Variant report

Variant	esv3380168
Chromosome Location	chr19:21032661-21103629
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr19:21052220-21052370	GM12866	blood:	n/a	n/a
5	CTCF	chr19:21032872-21032964	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr19:21061680-21061830	GM12866	blood:	n/a	n/a
7	CTCF	chr19:21096180-21096330	GM12867	blood:	n/a	n/a
8	CTCF	chr19:21100025-21100133	Lung_OC	lung:	n/a	n/a
9	CTCF	chr19:21044720-21044870	HepG2	liver:	n/a	n/a
10	CTCF	chr19:21039315-21039388	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr19:21049460-21049610	GM12868	blood:	n/a	n/a
12	E2F6	chr19:21041471-21041940	H1-hESC	embryonic stem cell:	n/a	n/a
13	EGR1	chr19:21041677-21041986	H1-hESC	embryonic stem cell:	n/a	n/a
14	EP300	chr19:21041097-21041449	H1-hESC	embryonic stem cell:	n/a	n/a
15	FOSL2	chr19:21047757-21048037	HepG2	liver:	n/a	n/a
16	FOSL2	chr19:21047776-21048073	HepG2	liver:	n/a	n/a
17	GTF2F1	chr19:21040910-21041110	H1-hESC	embryonic stem cell:	n/a	n/a
18	GTF2F1	chr19:21041381-21041388	H1-hESC	embryonic stem cell:	n/a	n/a
19	GTF2F1	chr19:21041637-21041888	H1-hESC	embryonic stem cell:	n/a	n/a
20	JUND	chr19:21041092-21041512	H1-hESC	embryonic stem cell:	n/a	n/a
21	JUND	chr19:21041810-21041944	H1-hESC	embryonic stem cell:	n/a	n/a
22	JUND	chr19:21047839-21048036	HepG2	liver:	n/a	n/a
23	KAT2A	chr19:21037090-21037456	GM12878	blood:	n/a	n/a
24	MAFF	chr19:21102294-21102538	HepG2	liver:	n/a	chr19:21102403-21102421
25	MAFF	chr19:21102317-21102443	K562	blood:	n/a	chr19:21102403-21102421
26	MAFK	chr19:21102247-21102554	HepG2	liver:	n/a	chr19:21102404-21102420 chr19:21102407-21102421 chr19:21102404-21102419
27	MAFK	chr19:21102303-21102546	HepG2	liver:	n/a	chr19:21102404-21102420 chr19:21102407-21102421 chr19:21102404-21102419
28	MAX	chr19:21054056-21054095	NB4	blood:	n/a	n/a
29	MAX	chr19:21040951-21041254	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr19:21041708-21042025	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr19:21041676-21041962	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	chr19:21075450-21075519	H1-hESC	embryonic stem cell:	n/a	n/a
34	MYC	chr19:21084283-21084359	H1-hESC	embryonic stem cell:	n/a	n/a
35	MYC	chr19:21035245-21035274	MCF-7	breast:	n/a	n/a
36	MYC	chr19:21071038-21071245	H1-hESC	embryonic stem cell:	n/a	n/a
37	MYC	chr19:21074202-21074277	H1-hESC	embryonic stem cell:	n/a	n/a
38	MYC	chr19:21072307-21072364	H1-hESC	embryonic stem cell:	n/a	n/a
39	MYC	chr19:21096511-21096630	H1-hESC	embryonic stem cell:	n/a	n/a
40	PBX3	chr19:21046205-21046365	GM12878	blood:	n/a	chr19:21046242-21046251
41	PBX3	chr19:21046161-21046382	GM12878	blood:	n/a	chr19:21046242-21046251
42	POLR2A	chr19:21045974-21046122	GM12878	blood:	n/a	n/a
43	POLR2A	chr19:21041772-21041956	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr19:21041082-21041257	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr19:21044272-21044277	GM12878	blood:	n/a	n/a
46	POLR2A	chr19:21046257-21046364	GM12878	blood:	n/a	n/a
47	POLR2A	chr19:21059143-21059272	K562	blood:	n/a	n/a
48	POLR2A	chr19:21041700-21041999	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr19:21045896-21046437	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr19:21045766-21046084	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:21097861..21100856-chr19:21103633..21106940,3	MCF-7	breast:
2	chr19:21051172..21052986-chr19:21053944..21056414,2	MCF-7	breast:
3	chr19:21051172..21052986-chr19:21053944..21056414,2	MCF-7	breast:
4	chr19:21086946..21088802-chr19:21210415..21213328,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269373	TF binding region
ZNF85	TF binding region
ENSG00000105750	chromatin interactions

Extended variants
information (count: 2702 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:2702 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2545199	chr19:21032897-21032898	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549838801	chr19:21032988-21032989	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs527862176	chr19:21033417-21033418	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs146944198	chr19:21033438-21033439	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs547610167	chr19:21033467-21033468	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs567416929	chr19:21033516-21033517	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs75180795	chr19:21033519-21033520	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs191775630	chr19:21035205-21035206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs117031796	chr19:21035209-21035210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs4026075	chr19:21035221-21035222	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs146079802	chr19:21035236-21035237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs2909792	chr19:21035248-21035249	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs2545209	chr19:21035269-21035270	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs117641772	chr19:21035275-21035276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs117799736	chr19:21035281-21035282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs566809739	chr19:21035296-21035297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs10402034	chr19:21035322-21035323	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs184016909	chr19:21035329-21035330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs35301331	chr19:21035356-21035357	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs188034043	chr19:21035358-21035359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs548603258	chr19:21035369-21035370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs577332060	chr19:21035383-21035384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs546452206	chr19:21035394-21035395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs386807706	chr19:21035406-21035407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs2081053	chr19:21035407-21035408	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs146795975	chr19:21035413-21035414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs574233111	chr19:21035449-21035450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs148687238	chr19:21035450-21035451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs537565847	chr19:21035460-21035461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs142202495	chr19:21035495-21035496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs557145549	chr19:21035525-21035526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs367760012	chr19:21035529-21035530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs550821704	chr19:21035538-21035539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs151222215	chr19:21035540-21035541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs182171391	chr19:21035556-21035557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs4026073	chr19:21035570-21035571	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs111535239	chr19:21035602-21035603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs566228921	chr19:21035607-21035608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs535213864	chr19:21035608-21035609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs186860925	chr19:21035657-21035658	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs539679587	chr19:21035663-21035664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs146993985	chr19:21035683-21035684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs537467006	chr19:21035727-21035728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs553141467	chr19:21035731-21035732	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs2545211	chr19:21035737-21035738	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs545034773	chr19:21035778-21035779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs577493515	chr19:21035831-21035832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs8103666	chr19:21035834-21035835	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs192838898	chr19:21035861-21035862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs368641783	chr19:21035874-21035875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21035200-21036000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
2	chr19:21040600-21040800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr19:21040800-21041200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
4	chr19:21040800-21042000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:21041200-21042000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr19:21042200-21042600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr19:21043200-21043400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:21043400-21045600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:21044200-21044400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr19:21045600-21046000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:21049400-21071800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr19:21049800-21052800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr19:21052200-21063600	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr19:21052600-21052800	ZNF genes & repeats	Aorta	Aorta
15	chr19:21052600-21053200	Active TSS	Fetal Heart	heart
16	chr19:21052600-21053200	ZNF genes & repeats	Spleen	Spleen
17	chr19:21057200-21058200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
18	chr19:21063400-21075600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
19	chr19:21069600-21069800	ZNF genes & repeats	Fetal Brain Female	brain
20	chr19:21073000-21073600	Active TSS	Fetal Heart	heart
21	chr19:21073800-21075600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr19:21075000-21075400	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr19:21075600-21078800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr19:21078800-21081200	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr19:21078800-21082600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
26	chr19:21081800-21082800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr19:21085800-21086200	ZNF genes & repeats	Pancreas	Pancrea
28	chr19:21086600-21087800	ZNF genes & repeats	Fetal Brain Male	brain
29	chr19:21087800-21095400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
30	chr19:21089400-21090200	ZNF genes & repeats	Pancreas	Pancrea
31	chr19:21089600-21090000	ZNF genes & repeats	Fetal Heart	heart
32	chr19:21089800-21090600	ZNF genes & repeats	Liver	Liver
33	chr19:21090000-21090400	Weak transcription	Fetal Heart	heart
34	chr19:21090400-21091000	Active TSS	Fetal Heart	heart
35	chr19:21091800-21094000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
36	chr19:21093600-21097000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr19:21103400-21106000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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