Variant report

Variant	esv3521009
Chromosome Location	chr19:40379567-40395277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:288)
CpG islands
(count:428)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:40388564-40388584	HepG2	liver:	n/a	n/a
2	BHLHE40	chr19:40393689-40394027	HepG2	liver:	n/a	n/a
3	CEBPB	chr19:40388532-40388555	Hela-S3	cervix:	n/a	n/a
4	CHD2	chr19:40388541-40388748	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr19:40388500-40388650	HepG2	liver:	n/a	n/a
6	CTCF	chr19:40388500-40388650	HUVEC	blood vessel:	n/a	n/a
7	CTCF	chr19:40388421-40388766	IMR90	lung:	n/a	n/a
8	CTCF	chr19:40388490-40388697	MCF-7	breast:	n/a	n/a
9	CTCF	chr19:40388500-40388650	HAc	cerebellar:	n/a	n/a
10	CTCF	chr19:40388500-40388650	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr19:40388487-40388716	Lung_OC	lung:	n/a	n/a
12	CTCF	chr19:40388540-40388690	HFF	foreskin:	n/a	n/a
13	CTCF	chr19:40388420-40388570	HL-60	blood:	n/a	n/a
14	CTCF	chr19:40388501-40388671	MCF-7	breast:	n/a	n/a
15	CTCF	chr19:40388505-40388656	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr19:40388473-40388765	LNCaP	prostate:	n/a	n/a
17	CTCF	chr19:40388491-40388735	GM13977	blood:	n/a	n/a
18	CTCF	chr19:40388500-40388650	K562	blood:	n/a	n/a
19	CTCF	chr19:40388540-40388690	GM12869	blood:	n/a	n/a
20	CTCF	chr19:40388500-40388650	HCFaa	heart:	n/a	n/a
21	CTCF	chr19:40388540-40388690	GM12868	blood:	n/a	n/a
22	CTCF	chr19:40388540-40388690	NHDF-neo	bronchial:	n/a	n/a
23	CTCF	chr19:40388480-40388630	GM12878	blood:	n/a	n/a
24	CTCF	chr19:40388682-40388738	Kidney_OC	kidney:	n/a	n/a
25	CTCF	chr19:40388500-40388650	HCPEpiC	choroid plexus:	n/a	n/a
26	CTCF	chr19:40388733-40388735	LNCaP	prostate:	n/a	n/a
27	CTCF	chr19:40388500-40388650	GM12878	blood:	n/a	n/a
28	CTCF	chr19:40388500-40388650	HMEC	breast:	n/a	n/a
29	CTCF	chr19:40388540-40388690	GM12867	blood:	n/a	n/a
30	CTCF	chr19:40388500-40388650	RPTEC	kidney:	n/a	n/a
31	CTCF	chr19:40388270-40388904	A549	lung:	n/a	n/a
32	CTCF	chr19:40388500-40388650	GM12874	blood:	n/a	n/a
33	CTCF	chr19:40388510-40388693	MCF-7	breast:	n/a	n/a
34	CTCF	chr19:40388465-40388964	A549	lung:	n/a	n/a
35	CTCF	chr19:40388500-40388650	HMF	breast:	n/a	n/a
36	CTCF	chr19:40388700-40388850	HepG2	liver:	n/a	n/a
37	CTCF	chr19:40388500-40388650	HRE	kidney:	n/a	n/a
38	CTCF	chr19:40388434-40388916	K562	blood:	n/a	n/a
39	CTCF	chr19:40388540-40388690	HRPEpiC	eye:	n/a	n/a
40	CTCF	chr19:40388522-40388673	ProgFib	skin:	n/a	n/a
41	CTCF	chr19:40393683-40393698	GM10248	blood:	n/a	n/a
42	CTCF	chr19:40388500-40388650	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr19:40388487-40388722	LNCaP	prostate:	n/a	n/a
44	CTCF	chr19:40388500-40388650	GM06990	blood:	n/a	n/a
45	CTCF	chr19:40388500-40388650	GM12865	blood:	n/a	n/a
46	CTCF	chr19:40388446-40388727	Gliobla	brain:	n/a	n/a
47	CTCF	chr19:40388540-40388690	GM12870	blood:	n/a	n/a
48	CTCF	chr19:40388501-40388692	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr19:40388466-40388707	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr19:40388540-40388690	MCF-7	breast:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40393119-40393169	HMEC	breast:	n/a
2	chr19:40393119-40393169	HMEC	breast:	n/a
3	chr19:40388677-40388727	AG09309	skin:	n/a
4	chr19:40391320-40391370	BE2_C	brain:	n/a
5	chr19:40379680-40379730	CMK	blood:	n/a
6	chr19:40388677-40388727	MCF-7	breast:	n/a
7	chr19:40392568-40392618	NT2-D1	testis:	n/a
8	chr19:40391320-40391370	SK-N-SH_RA	brain:	n/a
9	chr19:40392568-40392618	CMK	blood:	n/a
10	chr19:40392568-40392618	GM19239	blood:	n/a
11	chr19:40379680-40379730	ProgFib	skin:	n/a
12	chr19:40392568-40392618	AG04450	lung:	fetal
13	chr19:40380319-40380369	AoSMC	blood vessel:	n/a
14	chr19:40380319-40380369	MCF10A-Er-Src	breast:	n/a
15	chr19:40380319-40380369	HEEpiC	esophagus:	n/a
16	chr19:40393119-40393169	GM06990	blood:	n/a
17	chr19:40393119-40393169	Caco-2	colon:	n/a
18	chr19:40380853-40380903	ECC-1	luminal epithelium:	n/a
19	chr19:40392568-40392618	AoSMC	blood vessel:	n/a
20	chr19:40391320-40391370	H1-hESC	embryonic stem cell:	embryo
21	chr19:40380853-40380903	MCF-7	breast:	n/a
22	chr19:40392568-40392618	MCF10A-Er-Src	breast:	n/a
23	chr19:40388677-40388727	HIPEpiC	eye:	n/a
24	chr19:40380319-40380369	HCM	heart:	n/a
25	chr19:40380853-40380903	T-47D	breast:	n/a
26	chr19:40391320-40391370	NT2-D1	testis:	n/a
27	chr19:40391320-40391370	AoSMC	blood vessel:	n/a
28	chr19:40379680-40379730	HIPEpiC	eye:	n/a
29	chr19:40379680-40379730	SKMC	muscle:	n/a
30	chr19:40392568-40392618	HEEpiC	esophagus:	n/a
31	chr19:40393119-40393169	HRPEpiC	eye:	n/a
32	chr19:40380319-40380369	Hepatocyte	liver:	n/a
33	chr19:40392568-40392618	HMEC	breast:	n/a
34	chr19:40393119-40393169	LNCaP	prostate:	n/a
35	chr19:40380319-40380369	CMK	blood:	n/a
36	chr19:40380319-40380369	Caco-2	colon:	n/a
37	chr19:40380853-40380903	A549	lung:	n/a
38	chr19:40392568-40392618	HRPEpiC	eye:	n/a
39	chr19:40379680-40379730	ECC-1	luminal epithelium:	n/a
40	chr19:40380853-40380903	AG09319	gingival:	n/a
41	chr19:40392568-40392618	HCM	heart:	n/a
42	chr19:40380319-40380369	HIPEpiC	eye:	n/a
43	chr19:40379680-40379730	HCM	heart:	n/a
44	chr19:40379680-40379730	PANC-1	pancreas:	n/a
45	chr19:40380853-40380903	SK-N-SH_RA	brain:	n/a
46	chr19:40393119-40393169	T-47D	breast:	n/a
47	chr19:40391320-40391370	NHDF-neo	bronchial:	n/a
48	chr19:40380853-40380903	AG04450	lung:	fetal
49	chr19:40392568-40392618	NHDF-neo	bronchial:	n/a
50	chr19:40388677-40388727	Hela-S3	cervix:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40371890..40372866-chr19:40388384..40389142,3	MCF-7	breast:

No data

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

Extended variants
information (count: 478 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:478 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548964369	chr19:40379760-40379761	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs540957996	chr19:40379761-40379762	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs562385552	chr19:40379886-40379887	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs529585138	chr19:40380009-40380010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550602943	chr19:40380164-40380165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2542329	chr19:40380245-40380246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374131117	chr19:40380286-40380287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2542330	chr19:40380312-40380313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368003117	chr19:40380334-40380335	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs562455865	chr19:40380338-40380339	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs567290425	chr19:40380344-40380345	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs533092536	chr19:40380370-40380371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551165464	chr19:40380403-40380404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148126560	chr19:40380693-40380694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112181210	chr19:40380761-40380762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566692480	chr19:40380785-40380786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183885815	chr19:40380811-40380812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548738383	chr19:40380813-40380814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567224480	chr19:40380841-40380842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537707986	chr19:40380870-40380871	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs556976909	chr19:40381055-40381056	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs568908918	chr19:40381120-40381121	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs112077421	chr19:40381129-40381130	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs539954061	chr19:40381148-40381149	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs557957769	chr19:40381338-40381339	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs144449244	chr19:40381392-40381393	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs540494287	chr19:40381400-40381401	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs555955069	chr19:40381406-40381407	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs72480738	chr19:40381411-40381412	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs62108863	chr19:40381421-40381422	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs145281255	chr19:40381428-40381429	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs544915126	chr19:40381446-40381447	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs562493747	chr19:40381487-40381488	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs62108864	chr19:40381533-40381534	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs544954826	chr19:40381586-40381587	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs200357059	chr19:40381610-40381611	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs560011211	chr19:40381693-40381694	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs539228277	chr19:40381743-40381744	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs527332023	chr19:40381920-40381921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548776810	chr19:40382017-40382018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567116313	chr19:40382047-40382048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531546891	chr19:40382056-40382057	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs549642815	chr19:40382064-40382065	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs569271748	chr19:40382136-40382137	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs539468157	chr19:40382162-40382163	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs76154158	chr19:40382178-40382179	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs77586885	chr19:40382188-40382189	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs77085847	chr19:40382193-40382194	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs56009346	chr19:40382200-40382201	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs79551772	chr19:40382250-40382251	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:21 , 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	chr19:40388200-40389600	Enhancers	HepG2	liver
7	chr19:40388400-40388800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr19:40388400-40388800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr19:40388400-40388800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr19:40388400-40388800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:40388800-40399000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:40389400-40389800	Enhancers	Fetal Muscle Trunk	muscle
13	chr19:40389600-40391200	Weak transcription	HepG2	liver
14	chr19:40391000-40392000	Strong transcription	Fetal Intestine Small	intestine
15	chr19:40391200-40393000	Enhancers	HepG2	liver
16	chr19:40392000-40402800	Weak transcription	Fetal Intestine Small	intestine
17	chr19:40393000-40393200	Flanking Active TSS	HepG2	liver
18	chr19:40393000-40393800	Enhancers	Fetal Intestine Large	intestine
19	chr19:40393200-40393600	Enhancers	HepG2	liver
20	chr19:40393600-40393800	Active TSS	HepG2	liver
21	chr19:40393800-40404000	Weak transcription	Fetal Intestine Large	intestine

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