Variant report

Variant	esv3524798
Chromosome Location	chr19:23465045-23466869
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:135)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:135 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:23466709-23467067	HepG2	liver:	n/a	n/a
2	BHLHE40	chr19:23465524-23465669	GM12878	blood:	n/a	n/a
3	CEBPB	chr19:23464853-23465097	HepG2	liver:	n/a	n/a
4	CTCF	chr19:23466860-23467010	GM12866	blood:	n/a	n/a
5	CTCF	chr19:23466840-23466990	NHEK	skin:	n/a	n/a
6	CTCF	chr19:23466816-23467035	HepG2	liver:	n/a	n/a
7	CTCF	chr19:23466719-23467169	A549	lung:	n/a	n/a
8	CTCF	chr19:23466820-23467022	GM19239	blood:	n/a	n/a
9	CTCF	chr19:23466840-23466990	Caco-2	colon:	n/a	n/a
10	CTCF	chr19:23466840-23466990	HMEC	breast:	n/a	n/a
11	CTCF	chr19:23466840-23466990	GM12865	blood:	n/a	n/a
12	CTCF	chr19:23466840-23466990	WI-38	lung:	n/a	n/a
13	CTCF	chr19:23466860-23467010	HVMF	connective:	n/a	n/a
14	CTCF	chr19:23466805-23467040	MCF-7	breast:	n/a	n/a
15	CTCF	chr19:23466860-23467010	GM12878	blood:	n/a	n/a
16	CTCF	chr19:23466778-23467045	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr19:23466860-23467010	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr19:23466820-23466970	HRE	kidney:	n/a	n/a
19	CTCF	chr19:23466764-23467107	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr19:23466767-23467008	K562	blood:	n/a	n/a
21	CTCF	chr19:23466860-23467010	K562	blood:	n/a	n/a
22	CTCF	chr19:23466843-23467020	HUVEC	blood vessel:	n/a	n/a
23	CTCF	chr19:23466818-23467042	MCF-7	breast:	n/a	n/a
24	CTCF	chr19:23466823-23467054	Pancreas_OC	pancreas:	n/a	n/a
25	CTCF	chr19:23466860-23467010	GM12865	blood:	n/a	n/a
26	CTCF	chr19:23466820-23466970	NHLF	lung:	n/a	n/a
27	CTCF	chr19:23466802-23466989	HepG2	liver:	n/a	n/a
28	CTCF	chr19:23466840-23466990	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr19:23466840-23466990	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr19:23466840-23466990	RPTEC	kidney:	n/a	n/a
31	CTCF	chr19:23466857-23466994	GM20000	blood:	n/a	n/a
32	CTCF	chr19:23466840-23466990	GM12871	blood:	n/a	n/a
33	CTCF	chr19:23466860-23467010	GM12872	blood:	n/a	n/a
34	CTCF	chr19:23466820-23466970	AG09319	gingival:	n/a	n/a
35	CTCF	chr19:23466816-23467028	MCF-7	breast:	n/a	n/a
36	CTCF	chr19:23466800-23467043	GM12891	blood:	n/a	n/a
37	CTCF	chr19:23466860-23467010	MCF-7	breast:	n/a	n/a
38	CTCF	chr19:23466840-23466990	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr19:23466540-23466690	HCM	heart:	n/a	n/a
40	CTCF	chr19:23466811-23467060	GM19238	blood:	n/a	n/a
41	CTCF	chr19:23466811-23467046	GM12878	blood:	n/a	n/a
42	CTCF	chr19:23466860-23467010	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr19:23466782-23467062	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr19:23466845-23467005	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr19:23466860-23467010	GM12801	blood:	n/a	n/a
46	CTCF	chr19:23466821-23467045	Lung_OC	lung:	n/a	n/a
47	CTCF	chr19:23466840-23466990	GM12872	blood:	n/a	n/a
48	CTCF	chr19:23466820-23466970	GM12865	blood:	n/a	n/a
49	CTCF	chr19:23466860-23467010	HCFaa	heart:	n/a	n/a
50	CTCF	chr19:23466840-23466990	HRPEpiC	eye:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:56735011..56736549-chr19:23464937..23466566,2	MCF-7	breast:
2	chr19:23456110..23458063-chr19:23465875..23467770,2	MCF-7	breast:

No data

Variant related genes	Relation type
VN1R90P	TF binding region
ENSG00000213971	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537994469	chr19:23465045-23465046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568550197	chr19:23465058-23465059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113610669	chr19:23465064-23465065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529941686	chr19:23465115-23465116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373319877	chr19:23465122-23465123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1658217	chr19:23465137-23465138	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs1658218	chr19:23465143-23465144	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs185640921	chr19:23465155-23465156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112504991	chr19:23465158-23465159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111860408	chr19:23465165-23465166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537434180	chr19:23465186-23465187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28550952	chr19:23465240-23465241	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574192822	chr19:23465265-23465266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144023455	chr19:23465267-23465268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554302968	chr19:23465279-23465280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376497518	chr19:23465297-23465298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541639168	chr19:23465372-23465373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572653583	chr19:23465375-23465376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546448955	chr19:23465423-23465424	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs74477272	chr19:23465653-23465654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74537457	chr19:23465655-23465656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564338955	chr19:23465658-23465659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576539779	chr19:23465698-23465699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543815438	chr19:23465727-23465728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562209574	chr19:23465737-23465738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561470584	chr19:23465761-23465762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529395328	chr19:23465973-23465974	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs112142607	chr19:23466007-23466008	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs188409250	chr19:23466017-23466018	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs180774222	chr19:23466031-23466032	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560419159	chr19:23466034-23466035	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs112891649	chr19:23466054-23466055	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs531210608	chr19:23466083-23466084	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs185202068	chr19:23466148-23466149	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs570393886	chr19:23466252-23466253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs117241292	chr19:23466273-23466274	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs190304633	chr19:23466293-23466294	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs115848068	chr19:23466310-23466311	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs181118978	chr19:23466311-23466312	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs554093693	chr19:23466395-23466396	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs572565343	chr19:23466402-23466403	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs73563418	chr19:23466406-23466407	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs558450820	chr19:23466458-23466459	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs113417165	chr19:23466464-23466465	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs576804425	chr19:23466480-23466481	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs530388486	chr19:23466485-23466486	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs538836063	chr19:23466509-23466510	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543875733	chr19:23466608-23466609	ZNF genes & repeats Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs562019307	chr19:23466660-23466661	ZNF genes & repeats Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs55718024	chr19:23466661-23466662	ZNF genes & repeats Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:41)

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
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23457600-23470400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr19:23464200-23466000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr19:23464200-23467000	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr19:23464400-23465200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr19:23464400-23467000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr19:23464600-23466000	Enhancers	Primary T cells from cord blood	blood
7	chr19:23465000-23465200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:23465000-23465400	Enhancers	HepG2	liver
9	chr19:23465200-23466000	Enhancers	Dnd41	blood
10	chr19:23465200-23466200	Enhancers	Primary T cells fromperipheralblood	blood
11	chr19:23465200-23466600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr19:23465400-23465600	Flanking Active TSS	HepG2	liver
13	chr19:23465600-23465800	Enhancers	HepG2	liver
14	chr19:23465800-23466000	Flanking Active TSS	HepG2	liver
15	chr19:23466000-23466800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr19:23466000-23467000	Enhancers	HepG2	liver
17	chr19:23466200-23466600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr19:23466400-23470600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:23466600-23467000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr19:23466600-23467200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr19:23466800-23467000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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