Variant report

Variant	esv3317831
Chromosome Location	chr19:23463612-23468710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:199)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:199 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:23464504-23464974	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:23466709-23467067	HepG2	liver:	n/a	n/a
3	BHLHE40	chr19:23465524-23465669	GM12878	blood:	n/a	n/a
4	CEBPB	chr19:23464853-23465097	HepG2	liver:	n/a	n/a
5	CTCF	chr19:23464540-23464690	HepG2	liver:	n/a	n/a
6	CTCF	chr19:23466880-23467030	GM12869	blood:	n/a	n/a
7	CTCF	chr19:23466860-23467010	NHEK	skin:	n/a	n/a
8	CTCF	chr19:23466716-23467109	GM12878	blood:	n/a	n/a
9	CTCF	chr19:23466880-23467030	NHDF-neo	bronchial:	n/a	n/a
10	CTCF	chr19:23466860-23467010	AG09309	skin:	n/a	n/a
11	CTCF	chr19:23466840-23466990	GM12871	blood:	n/a	n/a
12	CTCF	chr19:23466803-23467014	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr19:23466880-23467030	HCPEpiC	choroid plexus:	n/a	n/a
14	CTCF	chr19:23466880-23467030	AG10803	skin:	n/a	n/a
15	CTCF	chr19:23466840-23466990	HCM	heart:	n/a	n/a
16	CTCF	chr19:23466840-23466990	RPTEC	kidney:	n/a	n/a
17	CTCF	chr19:23466840-23466990	NHEK	skin:	n/a	n/a
18	CTCF	chr19:23466880-23467030	HMF	breast:	n/a	n/a
19	CTCF	chr19:23466820-23466970	NHLF	lung:	n/a	n/a
20	CTCF	chr19:23466888-23466954	GM13976	blood:	n/a	n/a
21	CTCF	chr19:23466860-23467010	HVMF	connective:	n/a	n/a
22	CTCF	chr19:23466799-23466802	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr19:23466880-23467030	AG04450	lung:	n/a	n/a
24	CTCF	chr19:23466840-23466990	HepG2	liver:	n/a	n/a
25	CTCF	chr19:23466860-23467010	GM12875	blood:	n/a	n/a
26	CTCF	chr19:23466880-23467030	GM06990	blood:	n/a	n/a
27	CTCF	chr19:23466880-23467030	GM12868	blood:	n/a	n/a
28	CTCF	chr19:23466876-23467028	GM10248	blood:	n/a	n/a
29	CTCF	chr19:23466887-23466990	GM10266	blood:	n/a	n/a
30	CTCF	chr19:23466840-23466990	Caco-2	colon:	n/a	n/a
31	CTCF	chr19:23466860-23467010	HCFaa	heart:	n/a	n/a
32	CTCF	chr19:23466789-23467056	Gliobla	brain:	n/a	n/a
33	CTCF	chr19:23466880-23467030	HEK293	kidney:	n/a	n/a
34	CTCF	chr19:23466880-23467030	GM12874	blood:	n/a	n/a
35	CTCF	chr19:23466900-23467050	GM12869	blood:	n/a	n/a
36	CTCF	chr19:23466857-23466994	GM20000	blood:	n/a	n/a
37	CTCF	chr19:23466860-23467010	GM12865	blood:	n/a	n/a
38	CTCF	chr19:23466840-23466990	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr19:23466880-23467030	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr19:23466860-23467010	HPAF	blood vessel:	n/a	n/a
41	CTCF	chr19:23466816-23467028	MCF-7	breast:	n/a	n/a
42	CTCF	chr19:23466820-23466970	AG09319	gingival:	n/a	n/a
43	CTCF	chr19:23466719-23467169	A549	lung:	n/a	n/a
44	CTCF	chr19:23466880-23467030	SAEC	small airway:	n/a	n/a
45	CTCF	chr19:23466900-23467050	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr19:23466960-23467110	HAc	cerebellar:	n/a	n/a
47	CTCF	chr19:23466800-23466950	GM12868	blood:	n/a	n/a
48	CTCF	chr19:23466780-23466930	MCF-7	breast:	n/a	n/a
49	CTCF	chr19:23466818-23467042	MCF-7	breast:	n/a	n/a
50	CTCF	chr19:23466880-23467030	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	chr19:23456110..23458063-chr19:23465875..23467770,2	MCF-7	breast:
2	chr17:56735011..56736549-chr19:23464937..23466566,2	MCF-7	breast:

No data

Variant related genes	Relation type
VN1R91P	TF binding region
VN1R90P	TF binding region
ENSG00000213971	chromatin interactions

Extended variants
information (count: 232 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:232 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67731399	chr19:23463612-23463613	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538816628	chr19:23463621-23463622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116922621	chr19:23463651-23463652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369484313	chr19:23463676-23463677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367971683	chr19:23463695-23463696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560834077	chr19:23463724-23463725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372735929	chr19:23463732-23463733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539903005	chr19:23463739-23463740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563291652	chr19:23463743-23463744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565486244	chr19:23463771-23463772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532639104	chr19:23463773-23463774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529368858	chr19:23463812-23463813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147072888	chr19:23463813-23463814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187099364	chr19:23463826-23463827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548196680	chr19:23463833-23463834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71357972	chr19:23463837-23463838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566480268	chr19:23463859-23463860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374765	chr19:23463874-23463875	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs191549255	chr19:23463910-23463911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113895609	chr19:23463911-23463912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538484479	chr19:23463936-23463937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs36070467	chr19:23463954-23463955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs80073215	chr19:23463956-23463957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79737307	chr19:23463958-23463959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs71163480	chr19:23463973-23463974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557177391	chr19:23464027-23464028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575624804	chr19:23464079-23464080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373173518	chr19:23464106-23464107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs418980	chr19:23464114-23464115	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs547837266	chr19:23464150-23464151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572710553	chr19:23464197-23464198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185217614	chr19:23464221-23464222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564879744	chr19:23464222-23464223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61680743	chr19:23464234-23464235	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs368563534	chr19:23464331-23464332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71309644	chr19:23464334-23464335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544440905	chr19:23464338-23464339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201391490	chr19:23464341-23464342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2636154	chr19:23464342-23464343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62122162	chr19:23464350-23464351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs80174392	chr19:23464362-23464363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572210	chr19:23464366-23464367	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs190063318	chr19:23464406-23464407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560826370	chr19:23464436-23464437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527713911	chr19:23464444-23464445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550187590	chr19:23464462-23464463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552539827	chr19:23464518-23464519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570897054	chr19:23464546-23464547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149542978	chr19:23464568-23464569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs388346	chr19:23464613-23464614	Enhancers Weak transcription	n/a	n/a	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23457600-23470400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr19:23457800-23464200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr19:23458600-23464400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr19:23463400-23464800	Enhancers	HepG2	liver
5	chr19:23464200-23464400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr19:23464200-23466000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr19:23464200-23467000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr19:23464400-23465200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr19:23464400-23467000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr19:23464600-23466000	Enhancers	Primary T cells from cord blood	blood
11	chr19:23464800-23465000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr19:23464800-23465000	Flanking Active TSS	HepG2	liver
13	chr19:23465000-23465200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr19:23465000-23465400	Enhancers	HepG2	liver
15	chr19:23465200-23466000	Enhancers	Dnd41	blood
16	chr19:23465200-23466200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr19:23465200-23466600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:23465400-23465600	Flanking Active TSS	HepG2	liver
19	chr19:23465600-23465800	Enhancers	HepG2	liver
20	chr19:23465800-23466000	Flanking Active TSS	HepG2	liver
21	chr19:23466000-23466800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr19:23466000-23467000	Enhancers	HepG2	liver
23	chr19:23466200-23466600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr19:23466400-23470600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:23466600-23467000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr19:23466600-23467200	Enhancers	Primary T cells fromperipheralblood	blood
27	chr19:23466800-23467000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr19:23467400-23468600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:23468600-23492600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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