Variant report

Variant	nsv579515
Chromosome Location	chr19:40377330-40385905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:62)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:62 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:40377903-40377918	HepG2	liver:	n/a	n/a
2	BHLHE40	chr19:40378004-40378342	HepG2	liver:	n/a	n/a
3	CTCF	chr19:40382647-40382771	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr19:40382607-40382730	K562	blood:	n/a	n/a
5	CTCF	chr19:40377762-40377797	LNCaP	prostate:	n/a	n/a
6	CTCF	chr19:40382328-40382801	K562	blood:	n/a	n/a
7	CTCF	chr19:40382398-40382766	K562	blood:	n/a	n/a
8	CTCF	chr19:40382425-40382440	GM10248	blood:	n/a	n/a
9	EP300	chr19:40377804-40377996	HepG2	liver:	n/a	n/a
10	EP300	chr19:40377793-40377994	HepG2	liver:	n/a	n/a
11	FOSL2	chr19:40378609-40378896	HepG2	liver:	n/a	n/a
12	FOSL2	chr19:40377509-40378707	HepG2	liver:	n/a	n/a
13	FOSL2	chr19:40377520-40378589	HepG2	liver:	n/a	n/a
14	FOXA1	chr19:40377784-40378006	HepG2	liver:	n/a	n/a
15	FOXA1	chr19:40377468-40378585	HepG2	liver:	n/a	n/a
16	FOXA1	chr19:40377795-40377989	HepG2	liver:	n/a	n/a
17	FOXA1	chr19:40377787-40377999	HepG2	liver:	n/a	n/a
18	FOXA2	chr19:40377519-40378424	A549	lung:	n/a	n/a
19	FOXA2	chr19:40377825-40377959	HepG2	liver:	n/a	n/a
20	FOXA2	chr19:40377575-40378397	A549	lung:	n/a	n/a
21	HEY1	chr19:40377385-40378935	HepG2	liver:	n/a	n/a
22	HEY1	chr19:40377490-40378490	HepG2	liver:	n/a	n/a
23	HNF4A	chr19:40377813-40377983	HepG2	liver:	n/a	n/a
24	JUND	chr19:40377454-40378582	HepG2	liver:	n/a	n/a
25	JUND	chr19:40377552-40378566	HepG2	liver:	n/a	n/a
26	JUND	chr19:40378593-40378885	HepG2	liver:	n/a	n/a
27	MYBL2	chr19:40377575-40378940	HepG2	liver:	n/a	n/a
28	MYBL2	chr19:40377359-40378697	HepG2	liver:	n/a	n/a
29	POLR2A	chr19:40379270-40379891	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr19:40382616-40383853	PANC-1	pancreas:	n/a	n/a
31	POLR2A	chr19:40378260-40378547	HepG2	liver:	n/a	n/a
32	POLR2A	chr19:40377731-40378622	HepG2	liver:	n/a	n/a
33	POLR2A	chr19:40378231-40378616	HepG2	liver:	n/a	n/a
34	POLR2A	chr19:40377526-40378152	HepG2	liver:	n/a	n/a
35	POLR2A	chr19:40382056-40383600	PANC-1	pancreas:	n/a	n/a
36	POLR2A	chr19:40380921-40381759	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr19:40385898-40386570	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr19:40376607-40379019	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr19:40377500-40378204	HepG2	liver:	n/a	n/a
40	POLR2A	chr19:40377589-40378934	HepG2	liver:	n/a	n/a
41	POLR2A	chr19:40379034-40379132	HepG2	liver:	n/a	n/a
42	POLR2A	chr19:40377344-40378628	HepG2	liver:	n/a	n/a
43	POLR2A	chr19:40380697-40380717	Gliobla	brain:	n/a	n/a
44	REST	chr19:40377760-40378524	HepG2	liver:	n/a	n/a
45	REST	chr19:40378233-40378468	HepG2	liver:	n/a	n/a
46	RXRA	chr19:40376986-40377334	HepG2	liver:	n/a	n/a
47	RXRA	chr19:40377373-40378611	HepG2	liver:	n/a	n/a
48	RXRA	chr19:40377528-40378629	HepG2	liver:	n/a	n/a
49	SIN3AK20	chr19:40378200-40378491	HepG2	liver:	n/a	n/a
50	SIN3AK20	chr19:40378333-40378438	HepG2	liver:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40380853-40380903	HNPCEpiC	eye:	n/a
2	chr19:40380853-40380903	HMEC	breast:	n/a
3	chr19:40380319-40380369	A549	lung:	n/a
4	chr19:40379680-40379730	CMK	blood:	n/a
5	chr19:40380853-40380903	AG04450	lung:	fetal
6	chr19:40380853-40380903	LNCaP	prostate:	n/a
7	chr19:40380853-40380903	SKMC	muscle:	n/a
8	chr19:40380319-40380369	HRCEpiC	kidney:	n/a
9	chr19:40377434-40377484	HEK293	kidney:	embryo
10	chr19:40379680-40379730	HepG2	liver:	n/a
11	chr19:40377434-40377484	HAEpiC	amniotic membrane:	n/a
12	chr19:40379680-40379730	AG04449	skin:	fetal
13	chr19:40377434-40377484	NB4	blood:	n/a
14	chr19:40380319-40380369	SK-N-MC	brain:	n/a
15	chr19:40380853-40380903	AG10803	skin:	n/a
16	chr19:40380319-40380369	MCF-7	breast:	n/a
17	chr19:40377434-40377484	T-47D	breast:	n/a
18	chr19:40379680-40379730	LNCaP	prostate:	n/a
19	chr19:40380319-40380369	NH-A	brain:	n/a
20	chr19:40380319-40380369	PANC-1	pancreas:	n/a
21	chr19:40380853-40380903	HCPEpiC	choroid plexus:	n/a
22	chr19:40377434-40377484	K562	blood:	n/a
23	chr19:40380853-40380903	HEK293	kidney:	embryo
24	chr19:40379680-40379730	HRE	kidney:	n/a
25	chr19:40380319-40380369	HRPEpiC	eye:	n/a
26	chr19:40377434-40377484	A549	lung:	n/a
27	chr19:40380853-40380903	PANC-1	pancreas:	n/a
28	chr19:40380853-40380903	AG09319	gingival:	n/a
29	chr19:40379680-40379730	Hepatocyte	liver:	n/a
30	chr19:40377434-40377484	SKMC	muscle:	n/a
31	chr19:40380319-40380369	AG04449	skin:	fetal
32	chr19:40380853-40380903	MCF10A-Er-Src	breast:	n/a
33	chr19:40380319-40380369	AG04450	lung:	fetal
34	chr19:40380319-40380369	AG10803	skin:	n/a
35	chr19:40380853-40380903	PFSK-1	brain:	n/a
36	chr19:40377434-40377484	HIPEpiC	eye:	n/a
37	chr19:40380853-40380903	Hela-S3	cervix:	n/a
38	chr19:40380853-40380903	RPTEC	kidney:	n/a
39	chr19:40380853-40380903	T-47D	breast:	n/a
40	chr19:40379680-40379730	SAEC	small airway:	n/a
41	chr19:40380853-40380903	HIPEpiC	eye:	n/a
42	chr19:40377434-40377484	AG09319	gingival:	n/a
43	chr19:40379680-40379730	T-47D	breast:	n/a
44	chr19:40380853-40380903	HUVEC	blood vessel:	n/a
45	chr19:40379680-40379730	BE2_C	brain:	n/a
46	chr19:40380853-40380903	GM19239	blood:	n/a
47	chr19:40380853-40380903	GM12891	blood:	n/a
48	chr19:40377434-40377484	GM12891	blood:	n/a
49	chr19:40377434-40377484	HPAEpiC	pulmonary alveolar:	n/a
50	chr19:40377434-40377484	HRCEpiC	kidney:	n/a

No data

Variant related genes	Relation type
FCGBP	TF binding region
FCGBP	CpG island

Extended variants
information (count: 178 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535477754	chr19:40377330-40377331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148639283	chr19:40377420-40377421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556890951	chr19:40377435-40377436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575344655	chr19:40377536-40377537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200119177	chr19:40377584-40377585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371548260	chr19:40377587-40377588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62108861	chr19:40377602-40377603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545972335	chr19:40377904-40377905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375955361	chr19:40377918-40377919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79383160	chr19:40378138-40378139	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs62108862	chr19:40378192-40378193	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs372393812	chr19:40378400-40378401	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs113904008	chr19:40378578-40378579	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs564748892	chr19:40378614-40378615	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs569047960	chr19:40379280-40379281	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs548964369	chr19:40379760-40379761	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs540957996	chr19:40379761-40379762	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs562385552	chr19:40379886-40379887	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs529585138	chr19:40380009-40380010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550602943	chr19:40380164-40380165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2542329	chr19:40380245-40380246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374131117	chr19:40380286-40380287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2542330	chr19:40380312-40380313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368003117	chr19:40380334-40380335	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs562455865	chr19:40380338-40380339	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs567290425	chr19:40380344-40380345	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs533092536	chr19:40380370-40380371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551165464	chr19:40380403-40380404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148126560	chr19:40380693-40380694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112181210	chr19:40380761-40380762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566692480	chr19:40380785-40380786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183885815	chr19:40380811-40380812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548738383	chr19:40380813-40380814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567224480	chr19:40380841-40380842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537707986	chr19:40380870-40380871	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs556976909	chr19:40381055-40381056	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs568908918	chr19:40381120-40381121	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs112077421	chr19:40381129-40381130	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs539954061	chr19:40381148-40381149	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs557957769	chr19:40381338-40381339	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs144449244	chr19:40381392-40381393	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs540494287	chr19:40381400-40381401	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs555955069	chr19:40381406-40381407	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs72480738	chr19:40381411-40381412	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs62108863	chr19:40381421-40381422	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs145281255	chr19:40381428-40381429	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs544915126	chr19:40381446-40381447	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs562493747	chr19:40381487-40381488	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs62108864	chr19:40381533-40381534	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs544954826	chr19:40381586-40381587	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	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
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40369800-40402600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr19:40369800-40404000	Weak transcription	Colonic Mucosa	Colon
3	chr19:40371200-40402800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr19:40371200-40404000	Weak transcription	Primary T cells from cord blood	blood
5	chr19:40371400-40391000	Weak transcription	Fetal Intestine Small	intestine
6	chr19:40372800-40377800	Weak transcription	HepG2	liver
7	chr19:40377800-40378000	Enhancers	HepG2	liver

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