Variant report

Variant	esv3399505
Chromosome Location	chr19:40381109-40394405
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:285)
CpG islands
(count:245)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:285 , 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	chr19:40387947-40388016	GM13976	blood:	n/a	n/a
6	CTCF	chr19:40382607-40382730	K562	blood:	n/a	n/a
7	CTCF	chr19:40388522-40388673	ProgFib	skin:	n/a	n/a
8	CTCF	chr19:40388500-40388650	HCPEpiC	choroid plexus:	n/a	n/a
9	CTCF	chr19:40388820-40388970	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr19:40382425-40382440	GM10248	blood:	n/a	n/a
11	CTCF	chr19:40388733-40388735	LNCaP	prostate:	n/a	n/a
12	CTCF	chr19:40388501-40388692	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr19:40388520-40388670	NHDF-neo	bronchial:	n/a	n/a
14	CTCF	chr19:40388356-40388875	SK-N-SH	brain:	n/a	n/a
15	CTCF	chr19:40388712-40388768	GM10248	blood:	n/a	n/a
16	CTCF	chr19:40388466-40388707	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr19:40388500-40388650	SAEC	small airway:	n/a	n/a
18	CTCF	chr19:40388540-40388690	HFF	foreskin:	n/a	n/a
19	CTCF	chr19:40393720-40393721	GM10248	blood:	n/a	n/a
20	CTCF	chr19:40388462-40388706	HepG2	liver:	n/a	n/a
21	CTCF	chr19:40388500-40388650	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr19:40388473-40388691	GM12878	blood:	n/a	n/a
23	CTCF	chr19:40388540-40388690	MCF-7	breast:	n/a	n/a
24	CTCF	chr19:40388140-40388290	RPTEC	kidney:	n/a	n/a
25	CTCF	chr19:40388502-40388779	GM10266	blood:	n/a	n/a
26	CTCF	chr19:40388460-40388610	GM12864	blood:	n/a	n/a
27	CTCF	chr19:40388500-40388650	AG10803	skin:	n/a	n/a
28	CTCF	chr19:40382398-40382766	K562	blood:	n/a	n/a
29	CTCF	chr19:40388470-40388695	A549	lung:	n/a	n/a
30	CTCF	chr19:40388500-40388650	WI-38	lung:	n/a	n/a
31	CTCF	chr19:40388448-40388745	K562	blood:	n/a	n/a
32	CTCF	chr19:40392876-40392947	GM13976	blood:	n/a	n/a
33	CTCF	chr19:40388500-40388650	HA-sp	spinal cord:	n/a	n/a
34	CTCF	chr19:40388500-40388650	HRE	kidney:	n/a	n/a
35	CTCF	chr19:40388500-40388650	GM12878	blood:	n/a	n/a
36	CTCF	chr19:40388520-40388681	Fibrobl	skin:	n/a	n/a
37	CTCF	chr19:40388480-40388693	K562	blood:	n/a	n/a
38	CTCF	chr19:40388500-40388650	HMF	breast:	n/a	n/a
39	CTCF	chr19:40388426-40388881	K562	blood:	n/a	n/a
40	CTCF	chr19:40388471-40388692	NHEK	skin:	n/a	n/a
41	CTCF	chr19:40388500-40388650	GM12865	blood:	n/a	n/a
42	CTCF	chr19:40388473-40388709	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr19:40388420-40388570	HL-60	blood:	n/a	n/a
44	CTCF	chr19:40394207-40394251	LNCaP	prostate:	n/a	n/a
45	CTCF	chr19:40388500-40388650	HepG2	liver:	n/a	n/a
46	CTCF	chr19:40388421-40388766	IMR90	lung:	n/a	n/a
47	CTCF	chr19:40388500-40388650	HVMF	connective:	n/a	n/a
48	CTCF	chr19:40388500-40388650	HEK293	kidney:	n/a	n/a
49	CTCF	chr19:40388520-40388670	HMEC	breast:	n/a	n/a
50	CTCF	chr19:40388482-40388685	HUVEC	blood vessel:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40391320-40391370	Hela-S3	cervix:	n/a
2	chr19:40391320-40391370	Hela-S3	cervix:	n/a
3	chr19:40388677-40388727	AG09319	gingival:	n/a
4	chr19:40388677-40388727	GM12878	blood:	n/a
5	chr19:40391320-40391370	ProgFib	skin:	n/a
6	chr19:40393119-40393169	A549	lung:	n/a
7	chr19:40393119-40393169	AG09319	gingival:	n/a
8	chr19:40391320-40391370	ECC-1	luminal epithelium:	n/a
9	chr19:40388677-40388727	Jurkat	blood:	n/a
10	chr19:40391320-40391370	PFSK-1	brain:	n/a
11	chr19:40393119-40393169	BJ	skin:	n/a
12	chr19:40388677-40388727	GM12891	blood:	n/a
13	chr19:40392568-40392618	HUVEC	blood vessel:	n/a
14	chr19:40392568-40392618	IMR90	lung:	fetal
15	chr19:40391320-40391370	HCT-116	colon:	n/a
16	chr19:40388677-40388727	HEEpiC	esophagus:	n/a
17	chr19:40388677-40388727	NB4	blood:	n/a
18	chr19:40393119-40393169	SK-N-SH	brain:	n/a
19	chr19:40393119-40393169	NB4	blood:	n/a
20	chr19:40393119-40393169	BE2_C	brain:	n/a
21	chr19:40392568-40392618	HRE	kidney:	n/a
22	chr19:40391320-40391370	MCF-7	breast:	n/a
23	chr19:40393119-40393169	HAEpiC	amniotic membrane:	n/a
24	chr19:40391320-40391370	AG10803	skin:	n/a
25	chr19:40393119-40393169	NHBE	bronchial:	n/a
26	chr19:40391320-40391370	HNPCEpiC	eye:	n/a
27	chr19:40391320-40391370	NHDF-neo	bronchial:	n/a
28	chr19:40393119-40393169	ProgFib	skin:	n/a
29	chr19:40392568-40392618	SK-N-MC	brain:	n/a
30	chr19:40393119-40393169	PANC-1	pancreas:	n/a
31	chr19:40391320-40391370	Caco-2	colon:	n/a
32	chr19:40391320-40391370	HPAEpiC	pulmonary alveolar:	n/a
33	chr19:40388677-40388727	LNCaP	prostate:	n/a
34	chr19:40393119-40393169	Jurkat	blood:	n/a
35	chr19:40393119-40393169	Hepatocyte	liver:	n/a
36	chr19:40391320-40391370	AG04449	skin:	fetal
37	chr19:40391320-40391370	GM19239	blood:	n/a
38	chr19:40392568-40392618	HEK293	kidney:	embryo
39	chr19:40392568-40392618	H1-hESC	embryonic stem cell:	embryo
40	chr19:40388677-40388727	AoSMC	blood vessel:	n/a
41	chr19:40388677-40388727	K562	blood:	n/a
42	chr19:40392568-40392618	NT2-D1	testis:	n/a
43	chr19:40391320-40391370	GM12892	blood:	n/a
44	chr19:40392568-40392618	HMEC	breast:	n/a
45	chr19:40391320-40391370	HRE	kidney:	n/a
46	chr19:40393119-40393169	HRPEpiC	eye:	n/a
47	chr19:40391320-40391370	AG09319	gingival:	n/a
48	chr19:40393119-40393169	GM12892	blood:	n/a
49	chr19:40388677-40388727	NHDF-neo	bronchial:	n/a
50	chr19:40393119-40393169	HCPEpiC	choroid plexus:	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: 445 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:445 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568908918	chr19:40381120-40381121	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs112077421	chr19:40381129-40381130	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs539954061	chr19:40381148-40381149	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs557957769	chr19:40381338-40381339	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs144449244	chr19:40381392-40381393	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs540494287	chr19:40381400-40381401	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs555955069	chr19:40381406-40381407	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs72480738	chr19:40381411-40381412	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs62108863	chr19:40381421-40381422	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs145281255	chr19:40381428-40381429	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs544915126	chr19:40381446-40381447	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs562493747	chr19:40381487-40381488	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs62108864	chr19:40381533-40381534	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs544954826	chr19:40381586-40381587	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs200357059	chr19:40381610-40381611	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs560011211	chr19:40381693-40381694	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs539228277	chr19:40381743-40381744	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs527332023	chr19:40381920-40381921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548776810	chr19:40382017-40382018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567116313	chr19:40382047-40382048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531546891	chr19:40382056-40382057	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs549642815	chr19:40382064-40382065	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs569271748	chr19:40382136-40382137	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs539468157	chr19:40382162-40382163	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs76154158	chr19:40382178-40382179	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs77586885	chr19:40382188-40382189	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs77085847	chr19:40382193-40382194	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs56009346	chr19:40382200-40382201	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs79551772	chr19:40382250-40382251	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs78638893	chr19:40382253-40382254	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs369420178	chr19:40382272-40382273	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs556041079	chr19:40382283-40382284	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs200094949	chr19:40382325-40382326	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs574260833	chr19:40382344-40382345	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs373319655	chr19:40382452-40382453	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs544952040	chr19:40382498-40382499	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs556912128	chr19:40382593-40382594	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs578175338	chr19:40382611-40382612	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs544680603	chr19:40382617-40382618	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs201046280	chr19:40382629-40382630	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs202225430	chr19:40382669-40382670	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs370331745	chr19:40382684-40382685	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs199966138	chr19:40382697-40382698	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs527436799	chr19:40382706-40382707	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs200801843	chr19:40382736-40382737	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs560777106	chr19:40382742-40382743	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs531389886	chr19:40382760-40382761	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs549532613	chr19:40382761-40382762	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs202140525	chr19:40382821-40382822	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs571474889	chr19:40382824-40382825	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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