Variant report

Variant	esv3410841
Chromosome Location	chr19:40382924-40390977
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:217)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:217 , 50 per page) page: 1 2 3 4 5

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	CEBPB	chr19:40388532-40388555	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr19:40388541-40388748	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr19:40388740-40388890	HCM	heart:	n/a	n/a
5	CTCF	chr19:40388446-40388727	Gliobla	brain:	n/a	n/a
6	CTCF	chr19:40388540-40388690	GM12871	blood:	n/a	n/a
7	CTCF	chr19:40388495-40388693	GM19239	blood:	n/a	n/a
8	CTCF	chr19:40388500-40388650	RPTEC	kidney:	n/a	n/a
9	CTCF	chr19:40388520-40388681	Fibrobl	skin:	n/a	n/a
10	CTCF	chr19:40388462-40388706	HepG2	liver:	n/a	n/a
11	CTCF	chr19:40388460-40388610	GM12869	blood:	n/a	n/a
12	CTCF	chr19:40388540-40388690	GM12873	blood:	n/a	n/a
13	CTCF	chr19:40388440-40388590	GM12866	blood:	n/a	n/a
14	CTCF	chr19:40388493-40388679	GM20000	blood:	n/a	n/a
15	CTCF	chr19:40388482-40388695	ECC-1	luminal epithelium:	n/a	n/a
16	CTCF	chr19:40388500-40388650	NHEK	skin:	n/a	n/a
17	CTCF	chr19:40388511-40388709	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr19:40388500-40388650	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr19:40388500-40388650	NHLF	lung:	n/a	n/a
20	CTCF	chr19:40388500-40388650	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chr19:40388682-40388738	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr19:40388503-40388714	Pancreas_OC	pancreas:	n/a	n/a
23	CTCF	chr19:40388520-40388670	HCM	heart:	n/a	n/a
24	CTCF	chr19:40388500-40388650	HVMF	connective:	n/a	n/a
25	CTCF	chr19:40388484-40388694	GM12891	blood:	n/a	n/a
26	CTCF	chr19:40388500-40388650	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr19:40388500-40388650	HepG2	liver:	n/a	n/a
28	CTCF	chr19:40388489-40388685	MCF-7	breast:	n/a	n/a
29	CTCF	chr19:40388733-40388735	LNCaP	prostate:	n/a	n/a
30	CTCF	chr19:40388540-40388690	MCF-7	breast:	n/a	n/a
31	CTCF	chr19:40388480-40388630	GM12878	blood:	n/a	n/a
32	CTCF	chr19:40388470-40388695	A549	lung:	n/a	n/a
33	CTCF	chr19:40388520-40388670	AG04450	lung:	n/a	n/a
34	CTCF	chr19:40388448-40388745	K562	blood:	n/a	n/a
35	CTCF	chr19:40387947-40388016	GM13976	blood:	n/a	n/a
36	CTCF	chr19:40388366-40388805	A549	lung:	n/a	n/a
37	CTCF	chr19:40388479-40388687	MCF-7	breast:	n/a	n/a
38	CTCF	chr19:40388510-40388693	MCF-7	breast:	n/a	n/a
39	CTCF	chr19:40388500-40388650	GM12878	blood:	n/a	n/a
40	CTCF	chr19:40388471-40388692	NHEK	skin:	n/a	n/a
41	CTCF	chr19:40388500-40388650	HRPEpiC	eye:	n/a	n/a
42	CTCF	chr19:40388478-40388693	Medullo	brain:	n/a	n/a
43	CTCF	chr19:40388540-40388690	GM12869	blood:	n/a	n/a
44	CTCF	chr19:40388500-40388650	HCFaa	heart:	n/a	n/a
45	CTCF	chr19:40388520-40388670	NHDF-neo	bronchial:	n/a	n/a
46	CTCF	chr19:40387724-40387805	GM10266	blood:	n/a	n/a
47	CTCF	chr19:40388520-40388670	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr19:40388491-40388735	GM13977	blood:	n/a	n/a
49	CTCF	chr19:40388500-40388650	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr19:40388520-40388670	HMEC	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40388677-40388727	HCT-116	colon:	n/a
2	chr19:40388677-40388727	MCF-7	breast:	n/a
3	chr19:40388677-40388727	NH-A	brain:	n/a
4	chr19:40388677-40388727	HCPEpiC	choroid plexus:	n/a
5	chr19:40388677-40388727	Hela-S3	cervix:	n/a
6	chr19:40388677-40388727	SAEC	small airway:	n/a
7	chr19:40388677-40388727	HPAEpiC	pulmonary alveolar:	n/a
8	chr19:40388677-40388727	T-47D	breast:	n/a
9	chr19:40388677-40388727	GM12891	blood:	n/a
10	chr19:40388677-40388727	PANC-1	pancreas:	n/a
11	chr19:40388677-40388727	HRPEpiC	eye:	n/a
12	chr19:40388677-40388727	Jurkat	blood:	n/a
13	chr19:40388677-40388727	SK-N-SH_RA	brain:	n/a
14	chr19:40388677-40388727	H1-hESC	embryonic stem cell:	embryo
15	chr19:40388677-40388727	SK-N-SH	brain:	n/a
16	chr19:40388677-40388727	BE2_C	brain:	n/a
17	chr19:40388677-40388727	GM06990	blood:	n/a
18	chr19:40388677-40388727	LNCaP	prostate:	n/a
19	chr19:40388677-40388727	K562	blood:	n/a
20	chr19:40388677-40388727	GM12892	blood:	n/a
21	chr19:40388677-40388727	BJ	skin:	n/a
22	chr19:40388677-40388727	HUVEC	blood vessel:	n/a
23	chr19:40388677-40388727	AG10803	skin:	n/a
24	chr19:40388677-40388727	HRE	kidney:	n/a
25	chr19:40388677-40388727	AG09309	skin:	n/a
26	chr19:40388677-40388727	A549	lung:	n/a
27	chr19:40388677-40388727	HEEpiC	esophagus:	n/a
28	chr19:40388677-40388727	GM19239	blood:	n/a
29	chr19:40388677-40388727	HCF	heart:	n/a
30	chr19:40388677-40388727	GM12878	blood:	n/a
31	chr19:40388677-40388727	ovcar-3	ovarian:	n/a
32	chr19:40388677-40388727	U87	brain:	n/a
33	chr19:40388677-40388727	AG09319	gingival:	n/a
34	chr19:40388677-40388727	PrEC	prostate:	n/a
35	chr19:40388677-40388727	NHDF-neo	bronchial:	n/a
36	chr19:40388677-40388727	Caco-2	colon:	n/a
37	chr19:40388677-40388727	AG04449	skin:	fetal
38	chr19:40388677-40388727	HL-60	blood:	n/a
39	chr19:40388677-40388727	SK-N-MC	brain:	n/a
40	chr19:40388677-40388727	IMR90	lung:	fetal
41	chr19:40388677-40388727	HNPCEpiC	eye:	n/a
42	chr19:40388677-40388727	CMK	blood:	n/a
43	chr19:40388677-40388727	HIPEpiC	eye:	n/a
44	chr19:40388677-40388727	PFSK-1	brain:	n/a
45	chr19:40388677-40388727	AoSMC	blood vessel:	n/a
46	chr19:40388677-40388727	NB4	blood:	n/a
47	chr19:40388677-40388727	ProgFib	skin:	n/a
48	chr19:40388677-40388727	NT2-D1	testis:	n/a
49	chr19:40388677-40388727	RPTEC	kidney:	n/a
50	chr19:40388677-40388727	HCM	heart:	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: 250 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:250 , 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	rs147965600	chr19:40383017-40383018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567728121	chr19:40383121-40383122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538462980	chr19:40383148-40383149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2542304	chr19:40383200-40383201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578192848	chr19:40383256-40383257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369706951	chr19:40383296-40383297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539310608	chr19:40383313-40383314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553535144	chr19:40383379-40383380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs80108441	chr19:40383392-40383393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2020148	chr19:40383406-40383407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560668959	chr19:40383407-40383408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575706005	chr19:40383420-40383421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543218183	chr19:40383421-40383422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs737511	chr19:40383466-40383467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532348033	chr19:40383479-40383480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547645859	chr19:40383519-40383520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560317449	chr19:40383724-40383725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527699037	chr19:40383766-40383767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549370714	chr19:40383867-40383868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145218790	chr19:40383905-40383906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62108865	chr19:40383974-40383975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367618328	chr19:40384035-40384036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200304298	chr19:40384037-40384038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538301500	chr19:40384039-40384040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550147125	chr19:40384055-40384056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201083321	chr19:40384076-40384077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571809651	chr19:40384080-40384081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150820208	chr19:40384083-40384084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139430994	chr19:40384085-40384086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538992262	chr19:40384086-40384087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139813887	chr19:40384099-40384100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144364268	chr19:40384116-40384117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554431904	chr19:40384117-40384118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140133111	chr19:40384125-40384126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143773902	chr19:40384134-40384135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200124142	chr19:40384138-40384139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369233206	chr19:40384140-40384141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535869362	chr19:40384141-40384142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146703868	chr19:40384142-40384143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375888194	chr19:40384147-40384148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139184925	chr19:40384161-40384162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373569119	chr19:40384186-40384187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554098419	chr19:40384234-40384235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575743398	chr19:40384238-40384239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543499892	chr19:40384239-40384240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372659444	chr19:40384251-40384252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564959322	chr19:40384286-40384287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143762064	chr19:40384321-40384322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149763121	chr19:40384340-40384341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188565332	chr19:40384341-40384342	Weak transcription	n/a	n/a	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:13 , 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

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