Variant report

Variant	esv2763204
Chromosome Location	chr19:40374809-40393821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:339)
CpG islands
(count:610)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:339 , 50 per page) page: 1 2 3 4 5 6 7

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	ARID3A	chr19:40388564-40388584	HepG2	liver:	n/a	n/a
3	BHLHE40	chr19:40393689-40394027	HepG2	liver:	n/a	n/a
4	BHLHE40	chr19:40378004-40378342	HepG2	liver:	n/a	n/a
5	CEBPB	chr19:40388532-40388555	Hela-S3	cervix:	n/a	n/a
6	CHD2	chr19:40388541-40388748	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr19:40388540-40388690	MCF-7	breast:	n/a	n/a
8	CTCF	chr19:40388500-40388650	AG09309	skin:	n/a	n/a
9	CTCF	chr19:40388501-40388692	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr19:40388351-40388803	K562	blood:	n/a	n/a
11	CTCF	chr19:40388540-40388690	HFF	foreskin:	n/a	n/a
12	CTCF	chr19:40388500-40388650	HMEC	breast:	n/a	n/a
13	CTCF	chr19:40388478-40388688	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr19:40377762-40377797	LNCaP	prostate:	n/a	n/a
15	CTCF	chr19:40388500-40388650	GM12866	blood:	n/a	n/a
16	CTCF	chr19:40388493-40388679	GM20000	blood:	n/a	n/a
17	CTCF	chr19:40388420-40388570	HL-60	blood:	n/a	n/a
18	CTCF	chr19:40388520-40388670	WI-38	lung:	n/a	n/a
19	CTCF	chr19:40388471-40388692	NHEK	skin:	n/a	n/a
20	CTCF	chr19:40388500-40388650	HMF	breast:	n/a	n/a
21	CTCF	chr19:40388511-40388672	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr19:40388520-40388670	HCM	heart:	n/a	n/a
23	CTCF	chr19:40388500-40388650	HepG2	liver:	n/a	n/a
24	CTCF	chr19:40388540-40388690	GM12867	blood:	n/a	n/a
25	CTCF	chr19:40388540-40388690	GM12869	blood:	n/a	n/a
26	CTCF	chr19:40388366-40388805	A549	lung:	n/a	n/a
27	CTCF	chr19:40387724-40387805	GM10266	blood:	n/a	n/a
28	CTCF	chr19:40388480-40388820	Spleen_OC	spleen:	n/a	n/a
29	CTCF	chr19:40388700-40388850	HepG2	liver:	n/a	n/a
30	CTCF	chr19:40388540-40388690	BE2_C	brain:	n/a	n/a
31	CTCF	chr19:40388540-40388690	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr19:40388500-40388650	WI-38	lung:	n/a	n/a
33	CTCF	chr19:40388434-40388916	K562	blood:	n/a	n/a
34	CTCF	chr19:40388500-40388650	HEK293	kidney:	n/a	n/a
35	CTCF	chr19:40388500-40388650	NHEK	skin:	n/a	n/a
36	CTCF	chr19:40388505-40388656	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr19:40388520-40388670	HMEC	breast:	n/a	n/a
38	CTCF	chr19:40388511-40388709	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr19:40388520-40388670	HA-sp	spinal cord:	n/a	n/a
40	CTCF	chr19:40393720-40393721	GM10248	blood:	n/a	n/a
41	CTCF	chr19:40388503-40388714	Pancreas_OC	pancreas:	n/a	n/a
42	CTCF	chr19:40388500-40388650	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr19:40388365-40388850	A549	lung:	n/a	n/a
44	CTCF	chr19:40388454-40388720	GM19238	blood:	n/a	n/a
45	CTCF	chr19:40388500-40388650	AG04450	lung:	n/a	n/a
46	CTCF	chr19:40388500-40388650	AG10803	skin:	n/a	n/a
47	CTCF	chr19:40388480-40388630	GM12878	blood:	n/a	n/a
48	CTCF	chr19:40388482-40388685	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr19:40388540-40388690	NHDF-neo	bronchial:	n/a	n/a
50	CTCF	chr19:40382425-40382440	GM10248	blood:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40379680-40379730	AG10803	skin:	n/a
2	chr19:40380319-40380369	SK-N-SH	brain:	n/a
3	chr19:40375973-40376023	AG10803	skin:	n/a
4	chr19:40379680-40379730	BJ	skin:	n/a
5	chr19:40380853-40380903	GM12878	blood:	n/a
6	chr19:40393119-40393169	ECC-1	luminal epithelium:	n/a
7	chr19:40393119-40393169	HUVEC	blood vessel:	n/a
8	chr19:40376883-40376933	NHDF-neo	bronchial:	n/a
9	chr19:40380319-40380369	AG09319	gingival:	n/a
10	chr19:40392568-40392618	SAEC	small airway:	n/a
11	chr19:40393119-40393169	AG09309	skin:	n/a
12	chr19:40377434-40377484	AG10803	skin:	n/a
13	chr19:40391320-40391370	ovcar-3	ovarian:	n/a
14	chr19:40379680-40379730	GM12892	blood:	n/a
15	chr19:40388677-40388727	HCM	heart:	n/a
16	chr19:40377434-40377484	ProgFib	skin:	n/a
17	chr19:40375973-40376023	HUVEC	blood vessel:	n/a
18	chr19:40380319-40380369	SKMC	muscle:	n/a
19	chr19:40393119-40393169	GM12892	blood:	n/a
20	chr19:40392568-40392618	IMR90	lung:	fetal
21	chr19:40392568-40392618	Jurkat	blood:	n/a
22	chr19:40391320-40391370	BE2_C	brain:	n/a
23	chr19:40375973-40376023	HRPEpiC	eye:	n/a
24	chr19:40380853-40380903	PrEC	prostate:	n/a
25	chr19:40380853-40380903	HL-60	blood:	n/a
26	chr19:40388677-40388727	K562	blood:	n/a
27	chr19:40391320-40391370	HCM	heart:	n/a
28	chr19:40379680-40379730	Hepatocyte	liver:	n/a
29	chr19:40377434-40377484	Hela-S3	cervix:	n/a
30	chr19:40375973-40376023	HPAEpiC	pulmonary alveolar:	n/a
31	chr19:40388677-40388727	GM12892	blood:	n/a
32	chr19:40393119-40393169	SK-N-MC	brain:	n/a
33	chr19:40376883-40376933	HCF	heart:	n/a
34	chr19:40392568-40392618	SK-N-SH	brain:	n/a
35	chr19:40375973-40376023	PrEC	prostate:	n/a
36	chr19:40388677-40388727	T-47D	breast:	n/a
37	chr19:40393119-40393169	PANC-1	pancreas:	n/a
38	chr19:40375973-40376023	SK-N-SH_RA	brain:	n/a
39	chr19:40392568-40392618	SK-N-SH_RA	brain:	n/a
40	chr19:40375973-40376023	BJ	skin:	n/a
41	chr19:40388677-40388727	ProgFib	skin:	n/a
42	chr19:40379680-40379730	SKMC	muscle:	n/a
43	chr19:40377434-40377484	HPAEpiC	pulmonary alveolar:	n/a
44	chr19:40377434-40377484	AG09319	gingival:	n/a
45	chr19:40376883-40376933	HRPEpiC	eye:	n/a
46	chr19:40391320-40391370	HAEpiC	amniotic membrane:	n/a
47	chr19:40376883-40376933	HCM	heart:	n/a
48	chr19:40392568-40392618	HRE	kidney:	n/a
49	chr19:40392568-40392618	MCF-7	breast:	n/a
50	chr19:40377434-40377484	NHBE	bronchial:	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: 584 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:584 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547867992	chr19:40374842-40374843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575228856	chr19:40374845-40374846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs60739834	chr19:40374857-40374858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs60520569	chr19:40374861-40374862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566172021	chr19:40374869-40374870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536867337	chr19:40374873-40374874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199950215	chr19:40374874-40374875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570016505	chr19:40374903-40374904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62106956	chr19:40374977-40374978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537306817	chr19:40374996-40374997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374998834	chr19:40375110-40375111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558168720	chr19:40375130-40375131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576766886	chr19:40375258-40375259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376311988	chr19:40375263-40375264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1821298	chr19:40375274-40375275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142084769	chr19:40375276-40375277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574417001	chr19:40375295-40375296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs55770411	chr19:40375331-40375332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554562189	chr19:40375366-40375367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575622415	chr19:40375402-40375403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546111080	chr19:40375436-40375437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368838728	chr19:40375454-40375455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572975558	chr19:40375495-40375496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116301307	chr19:40375502-40375503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201255020	chr19:40375522-40375523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540376638	chr19:40375558-40375559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141448762	chr19:40375561-40375562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113453087	chr19:40375621-40375622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559817942	chr19:40375635-40375636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11878215	chr19:40375645-40375646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548382784	chr19:40375660-40375661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147092589	chr19:40375730-40375731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569905920	chr19:40375744-40375745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531152513	chr19:40375757-40375758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372448642	chr19:40375779-40375780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62106957	chr19:40375786-40375787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369071499	chr19:40375792-40375793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534626305	chr19:40375801-40375802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552667971	chr19:40375848-40375849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62106958	chr19:40375849-40375850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs67846451	chr19:40375894-40375895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs59859557	chr19:40375909-40375910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568153281	chr19:40375918-40375919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535505485	chr19:40375942-40375943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62106959	chr19:40375967-40375968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575507891	chr19:40375969-40375970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115012863	chr19:40375974-40375975	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
48	rs546147709	chr19:40376005-40376006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199641036	chr19:40376028-40376029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558018568	chr19:40376068-40376069	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40369800-40375800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr19:40369800-40402600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr19:40369800-40404000	Weak transcription	Colonic Mucosa	Colon
4	chr19:40371200-40402800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr19:40371200-40404000	Weak transcription	Primary T cells from cord blood	blood
6	chr19:40371400-40391000	Weak transcription	Fetal Intestine Small	intestine
7	chr19:40372800-40377800	Weak transcription	HepG2	liver
8	chr19:40377800-40378000	Enhancers	HepG2	liver
9	chr19:40388200-40389600	Enhancers	HepG2	liver
10	chr19:40388400-40388800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr19:40388400-40388800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr19:40388400-40388800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr19:40388400-40388800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:40388800-40399000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:40389400-40389800	Enhancers	Fetal Muscle Trunk	muscle
16	chr19:40389600-40391200	Weak transcription	HepG2	liver
17	chr19:40391000-40392000	Strong transcription	Fetal Intestine Small	intestine
18	chr19:40391200-40393000	Enhancers	HepG2	liver
19	chr19:40392000-40402800	Weak transcription	Fetal Intestine Small	intestine
20	chr19:40393000-40393200	Flanking Active TSS	HepG2	liver
21	chr19:40393000-40393800	Enhancers	Fetal Intestine Large	intestine
22	chr19:40393200-40393600	Enhancers	HepG2	liver
23	chr19:40393600-40393800	Active TSS	HepG2	liver
24	chr19:40393800-40404000	Weak transcription	Fetal Intestine Large	intestine

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