Variant report

Variant	esv3348077
Chromosome Location	chr19:21041161-21103393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:101)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:101 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr19:21041146-21041568	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr19:21052220-21052370	GM12866	blood:	n/a	n/a
3	CTCF	chr19:21044720-21044870	HepG2	liver:	n/a	n/a
4	CTCF	chr19:21061680-21061830	GM12866	blood:	n/a	n/a
5	CTCF	chr19:21096180-21096330	GM12867	blood:	n/a	n/a
6	CTCF	chr19:21100025-21100133	Lung_OC	lung:	n/a	n/a
7	CTCF	chr19:21049460-21049610	GM12868	blood:	n/a	n/a
8	E2F6	chr19:21041471-21041940	H1-hESC	embryonic stem cell:	n/a	n/a
9	EGR1	chr19:21041677-21041986	H1-hESC	embryonic stem cell:	n/a	n/a
10	EP300	chr19:21041097-21041449	H1-hESC	embryonic stem cell:	n/a	n/a
11	FOSL2	chr19:21047757-21048037	HepG2	liver:	n/a	n/a
12	FOSL2	chr19:21047776-21048073	HepG2	liver:	n/a	n/a
13	GTF2F1	chr19:21041381-21041388	H1-hESC	embryonic stem cell:	n/a	n/a
14	GTF2F1	chr19:21041637-21041888	H1-hESC	embryonic stem cell:	n/a	n/a
15	JUND	chr19:21041092-21041512	H1-hESC	embryonic stem cell:	n/a	n/a
16	JUND	chr19:21041810-21041944	H1-hESC	embryonic stem cell:	n/a	n/a
17	JUND	chr19:21047839-21048036	HepG2	liver:	n/a	n/a
18	MAFF	chr19:21102294-21102538	HepG2	liver:	n/a	chr19:21102403-21102421
19	MAFF	chr19:21102317-21102443	K562	blood:	n/a	chr19:21102403-21102421
20	MAFK	chr19:21102303-21102546	HepG2	liver:	n/a	chr19:21102404-21102420 chr19:21102407-21102421 chr19:21102404-21102419
21	MAFK	chr19:21102247-21102554	HepG2	liver:	n/a	chr19:21102404-21102420 chr19:21102407-21102421 chr19:21102404-21102419
22	MAX	chr19:21041676-21041962	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr19:21040951-21041254	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr19:21054056-21054095	NB4	blood:	n/a	n/a
25	MAX	chr19:21041708-21042025	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYC	chr19:21072307-21072364	H1-hESC	embryonic stem cell:	n/a	n/a
27	MYC	chr19:21096511-21096630	H1-hESC	embryonic stem cell:	n/a	n/a
28	MYC	chr19:21074202-21074277	H1-hESC	embryonic stem cell:	n/a	n/a
29	MYC	chr19:21071038-21071245	H1-hESC	embryonic stem cell:	n/a	n/a
30	MYC	chr19:21075450-21075519	H1-hESC	embryonic stem cell:	n/a	n/a
31	MYC	chr19:21084283-21084359	H1-hESC	embryonic stem cell:	n/a	n/a
32	PBX3	chr19:21046205-21046365	GM12878	blood:	n/a	chr19:21046242-21046251
33	PBX3	chr19:21046161-21046382	GM12878	blood:	n/a	chr19:21046242-21046251
34	POLR2A	chr19:21045766-21046084	MCF-7	breast:	n/a	n/a
35	POLR2A	chr19:21041700-21041999	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr19:21045974-21046122	GM12878	blood:	n/a	n/a
37	POLR2A	chr19:21046214-21046365	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr19:21041772-21041956	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr19:21047822-21048020	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr19:21041082-21041257	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr19:21056773-21056954	K562	blood:	n/a	n/a
42	POLR2A	chr19:21098700-21098816	K562	blood:	n/a	n/a
43	POLR2A	chr19:21045974-21046158	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr19:21056465-21056537	GM12878	blood:	n/a	n/a
45	POLR2A	chr19:21046257-21046364	GM12878	blood:	n/a	n/a
46	POLR2A	chr19:21045981-21046430	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr19:21044272-21044277	GM12878	blood:	n/a	n/a
48	POLR2A	chr19:21045896-21046437	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr19:21045992-21046106	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr19:21071511-21071549	GM12878	blood:	n/a	n/a

No data

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

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

No data

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

Extended variants
information (count: 2613 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:2613 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577626944	chr19:21041163-21041164	Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs190960034	chr19:21041165-21041166	Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs554058084	chr19:21041176-21041177	Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs112896813	chr19:21041186-21041187	Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs573736693	chr19:21041202-21041203	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs2545222	chr19:21041277-21041278	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs182674604	chr19:21041282-21041283	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs75576182	chr19:21041300-21041301	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs374163243	chr19:21041301-21041302	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs376731690	chr19:21041337-21041338	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs2547134	chr19:21041350-21041351	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs375798599	chr19:21041351-21041352	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs76575736	chr19:21041403-21041404	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs78442532	chr19:21041404-21041405	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs368894386	chr19:21041412-21041413	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs111372974	chr19:21041416-21041417	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs386807709	chr19:21041418-21041419	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs75999567	chr19:21041421-21041422	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs76612148	chr19:21041422-21041423	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs147817891	chr19:21041425-21041426	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs10414291	chr19:21041431-21041432	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs138925058	chr19:21041444-21041445	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs78758197	chr19:21041453-21041454	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs76759677	chr19:21041457-21041458	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs2545223	chr19:21041460-21041461	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs77595209	chr19:21041461-21041462	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs77069338	chr19:21041462-21041463	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs76379829	chr19:21041464-21041465	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs76578933	chr19:21041467-21041468	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs569775486	chr19:21041471-21041472	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs117218843	chr19:21041480-21041481	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs559209851	chr19:21041482-21041483	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs546945085	chr19:21041492-21041493	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs10412748	chr19:21041497-21041498	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs79483830	chr19:21041507-21041508	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs371998166	chr19:21041511-21041512	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs552354769	chr19:21041525-21041526	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs2545224	chr19:21041540-21041541	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs186164168	chr19:21041554-21041555	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs534623326	chr19:21041601-21041602	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs569002726	chr19:21041645-21041646	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs2547133	chr19:21041663-21041664	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs141366400	chr19:21041672-21041673	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs561546996	chr19:21041729-21041730	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs551465857	chr19:21041733-21041734	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs148442554	chr19:21041741-21041742	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs536689402	chr19:21041744-21041745	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs556278786	chr19:21041745-21041746	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs191040447	chr19:21041761-21041762	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs553759021	chr19:21041775-21041776	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:34 , 50 per page) page: 1

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

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