Variant report

Variant	esv3319139
Chromosome Location	chr19:40374295-40390282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:284)
CpG islands
(count:427)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:284 , 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	ARID3A	chr19:40377903-40377918	HepG2	liver:	n/a	n/a
3	BHLHE40	chr19:40378004-40378342	HepG2	liver:	n/a	n/a
4	CEBPB	chr19:40388532-40388555	Hela-S3	cervix:	n/a	n/a
5	CHD2	chr19:40388541-40388748	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr19:40388482-40388695	ECC-1	luminal epithelium:	n/a	n/a
7	CTCF	chr19:40388471-40388692	NHEK	skin:	n/a	n/a
8	CTCF	chr19:40388500-40388650	BJ	skin:	n/a	n/a
9	CTCF	chr19:40388500-40388650	GM12865	blood:	n/a	n/a
10	CTCF	chr19:40382647-40382771	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr19:40388500-40388650	HMF	breast:	n/a	n/a
12	CTCF	chr19:40388540-40388690	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr19:40388500-40388650	AG04449	skin:	n/a	n/a
14	CTCF	chr19:40388356-40388875	SK-N-SH	brain:	n/a	n/a
15	CTCF	chr19:40388540-40388690	NHDF-neo	bronchial:	n/a	n/a
16	CTCF	chr19:40388520-40388670	NHDF-neo	bronchial:	n/a	n/a
17	CTCF	chr19:40388484-40388694	GM12891	blood:	n/a	n/a
18	CTCF	chr19:40388478-40388693	Medullo	brain:	n/a	n/a
19	CTCF	chr19:40388366-40388805	A549	lung:	n/a	n/a
20	CTCF	chr19:40388496-40388723	GM13976	blood:	n/a	n/a
21	CTCF	chr19:40388493-40388679	GM20000	blood:	n/a	n/a
22	CTCF	chr19:40388454-40388720	GM19238	blood:	n/a	n/a
23	CTCF	chr19:40388487-40388716	Lung_OC	lung:	n/a	n/a
24	CTCF	chr19:40388700-40388850	HepG2	liver:	n/a	n/a
25	CTCF	chr19:40388478-40388688	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr19:40388502-40388779	GM10266	blood:	n/a	n/a
27	CTCF	chr19:40377762-40377797	LNCaP	prostate:	n/a	n/a
28	CTCF	chr19:40388482-40388685	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr19:40382607-40382730	K562	blood:	n/a	n/a
30	CTCF	chr19:40388500-40388650	HAc	cerebellar:	n/a	n/a
31	CTCF	chr19:40388460-40388610	GM12869	blood:	n/a	n/a
32	CTCF	chr19:40388500-40388650	HA-sp	spinal cord:	n/a	n/a
33	CTCF	chr19:40388490-40388697	MCF-7	breast:	n/a	n/a
34	CTCF	chr19:40388500-40388650	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr19:40388500-40388650	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr19:40388500-40388650	NHLF	lung:	n/a	n/a
37	CTCF	chr19:40388540-40388690	NB4	blood:	n/a	n/a
38	CTCF	chr19:40388500-40388650	GM12873	blood:	n/a	n/a
39	CTCF	chr19:40388500-40388650	AG09309	skin:	n/a	n/a
40	CTCF	chr19:40388470-40388695	A549	lung:	n/a	n/a
41	CTCF	chr19:40388500-40388650	HepG2	liver:	n/a	n/a
42	CTCF	chr19:40388773-40388789	GM10248	blood:	n/a	n/a
43	CTCF	chr19:40388500-40388650	HEK293	kidney:	n/a	n/a
44	CTCF	chr19:40388500-40388650	HEEpiC	esophagus:	n/a	n/a
45	CTCF	chr19:40387947-40388016	GM13976	blood:	n/a	n/a
46	CTCF	chr19:40388487-40388722	LNCaP	prostate:	n/a	n/a
47	CTCF	chr19:40388503-40388714	Pancreas_OC	pancreas:	n/a	n/a
48	CTCF	chr19:40388740-40388890	HCM	heart:	n/a	n/a
49	CTCF	chr19:40388520-40388681	Fibrobl	skin:	n/a	n/a
50	CTCF	chr19:40388434-40388916	K562	blood:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40376883-40376933	GM06990	blood:	n/a
2	chr19:40380319-40380369	AG04449	skin:	fetal
3	chr19:40377434-40377484	CMK	blood:	n/a
4	chr19:40377434-40377484	U87	brain:	n/a
5	chr19:40377434-40377484	BE2_C	brain:	n/a
6	chr19:40376883-40376933	HCM	heart:	n/a
7	chr19:40380319-40380369	LNCaP	prostate:	n/a
8	chr19:40375973-40376023	PANC-1	pancreas:	n/a
9	chr19:40377434-40377484	Jurkat	blood:	n/a
10	chr19:40380319-40380369	GM12891	blood:	n/a
11	chr19:40375973-40376023	T-47D	breast:	n/a
12	chr19:40375973-40376023	GM12891	blood:	n/a
13	chr19:40375973-40376023	HRE	kidney:	n/a
14	chr19:40377434-40377484	AG10803	skin:	n/a
15	chr19:40379680-40379730	NB4	blood:	n/a
16	chr19:40375973-40376023	HRCEpiC	kidney:	n/a
17	chr19:40379680-40379730	AG04449	skin:	fetal
18	chr19:40379680-40379730	HCF	heart:	n/a
19	chr19:40380853-40380903	Hepatocyte	liver:	n/a
20	chr19:40380853-40380903	NH-A	brain:	n/a
21	chr19:40377434-40377484	HCM	heart:	n/a
22	chr19:40375973-40376023	SKMC	muscle:	n/a
23	chr19:40379680-40379730	HCT-116	colon:	n/a
24	chr19:40376883-40376933	SK-N-SH_RA	brain:	n/a
25	chr19:40375973-40376023	BJ	skin:	n/a
26	chr19:40388677-40388727	CMK	blood:	n/a
27	chr19:40380853-40380903	AG09319	gingival:	n/a
28	chr19:40375973-40376023	NT2-D1	testis:	n/a
29	chr19:40388677-40388727	SK-N-SH_RA	brain:	n/a
30	chr19:40380853-40380903	ovcar-3	ovarian:	n/a
31	chr19:40379680-40379730	PrEC	prostate:	n/a
32	chr19:40377434-40377484	NH-A	brain:	n/a
33	chr19:40380319-40380369	BE2_C	brain:	n/a
34	chr19:40380319-40380369	AG09309	skin:	n/a
35	chr19:40377434-40377484	HNPCEpiC	eye:	n/a
36	chr19:40380853-40380903	RPTEC	kidney:	n/a
37	chr19:40377434-40377484	GM12891	blood:	n/a
38	chr19:40376883-40376933	HepG2	liver:	n/a
39	chr19:40375973-40376023	AoSMC	blood vessel:	n/a
40	chr19:40388677-40388727	AG09309	skin:	n/a
41	chr19:40376883-40376933	AG09309	skin:	n/a
42	chr19:40380319-40380369	AG10803	skin:	n/a
43	chr19:40377434-40377484	MCF10A-Er-Src	breast:	n/a
44	chr19:40376883-40376933	U87	brain:	n/a
45	chr19:40388677-40388727	HAEpiC	amniotic membrane:	n/a
46	chr19:40376883-40376933	A549	lung:	n/a
47	chr19:40377434-40377484	NHDF-neo	bronchial:	n/a
48	chr19:40380853-40380903	NT2-D1	testis:	n/a
49	chr19:40380319-40380369	HIPEpiC	eye:	n/a
50	chr19:40377434-40377484	HCF	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: 451 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:451 , 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	rs576292551	chr19:40374317-40374318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536668964	chr19:40374328-40374329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558082938	chr19:40374370-40374371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2436548	chr19:40374374-40374375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7256043	chr19:40374418-40374419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62106955	chr19:40374472-40374473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541108927	chr19:40374473-40374474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185084639	chr19:40374562-40374563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2262803	chr19:40374564-40374565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188801239	chr19:40374580-40374581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542181173	chr19:40374592-40374593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563593430	chr19:40374594-40374595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530800179	chr19:40374637-40374638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550205743	chr19:40374751-40374752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565239899	chr19:40374789-40374790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532538755	chr19:40374797-40374798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547867992	chr19:40374842-40374843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575228856	chr19:40374845-40374846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs60739834	chr19:40374857-40374858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs60520569	chr19:40374861-40374862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566172021	chr19:40374869-40374870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536867337	chr19:40374873-40374874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199950215	chr19:40374874-40374875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570016505	chr19:40374903-40374904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62106956	chr19:40374977-40374978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537306817	chr19:40374996-40374997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374998834	chr19:40375110-40375111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558168720	chr19:40375130-40375131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576766886	chr19:40375258-40375259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376311988	chr19:40375263-40375264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1821298	chr19:40375274-40375275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142084769	chr19:40375276-40375277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574417001	chr19:40375295-40375296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs55770411	chr19:40375331-40375332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554562189	chr19:40375366-40375367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575622415	chr19:40375402-40375403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546111080	chr19:40375436-40375437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368838728	chr19:40375454-40375455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572975558	chr19:40375495-40375496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116301307	chr19:40375502-40375503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201255020	chr19:40375522-40375523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540376638	chr19:40375558-40375559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141448762	chr19:40375561-40375562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113453087	chr19:40375621-40375622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559817942	chr19:40375635-40375636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11878215	chr19:40375645-40375646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548382784	chr19:40375660-40375661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147092589	chr19:40375730-40375731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569905920	chr19:40375744-40375745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531152513	chr19:40375757-40375758	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:16 , 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

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