Variant report

Variant	nsv471484
Chromosome Location	chr19:40373268-40404709
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:697)
CpG islands
(count:916)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:697 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

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	BCL11A	chr19:40404210-40404647	GM12878	blood:	n/a	chr19:40404401-40404414
4	BHLHE40	chr19:40393689-40394027	HepG2	liver:	n/a	n/a
5	BHLHE40	chr19:40378004-40378342	HepG2	liver:	n/a	n/a
6	BHLHE40	chr19:40404194-40404362	GM12878	blood:	n/a	n/a
7	CBX3	chr19:40404078-40404473	K562	blood:	n/a	n/a
8	CEBPB	chr19:40402571-40402768	K562	blood:	n/a	chr19:40402707-40402718
9	CEBPB	chr19:40402641-40402841	A549	lung:	n/a	chr19:40402707-40402718
10	CEBPB	chr19:40402564-40402888	HepG2	liver:	n/a	chr19:40402707-40402718
11	CEBPB	chr19:40388532-40388555	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr19:40402703-40402726	H1-hESC	embryonic stem cell:	n/a	chr19:40402707-40402718
13	CEBPB	chr19:40402580-40402849	IMR90	lung:	n/a	chr19:40402707-40402718
14	CHD2	chr19:40404120-40404312	GM12878	blood:	n/a	n/a
15	CHD2	chr19:40388541-40388748	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr19:40404260-40404410	RPTEC	kidney:	n/a	n/a
17	CTCF	chr19:40404240-40404390	AG04450	lung:	n/a	n/a
18	CTCF	chr19:40388493-40388679	GM20000	blood:	n/a	n/a
19	CTCF	chr19:40388491-40388735	GM13977	blood:	n/a	n/a
20	CTCF	chr19:40388470-40388695	A549	lung:	n/a	n/a
21	CTCF	chr19:40404231-40404659	HCT-116	colon:	n/a	n/a
22	CTCF	chr19:40404220-40404370	GM12875	blood:	n/a	n/a
23	CTCF	chr19:40404146-40404541	K562	blood:	n/a	n/a
24	CTCF	chr19:40404000-40404150	HMF	breast:	n/a	n/a
25	CTCF	chr19:40404060-40404210	GM12872	blood:	n/a	n/a
26	CTCF	chr19:40404200-40404350	GM12864	blood:	n/a	n/a
27	CTCF	chr19:40388540-40388690	BE2_C	brain:	n/a	n/a
28	CTCF	chr19:40404240-40404390	AoAF	blood vessel:	n/a	n/a
29	CTCF	chr19:40404240-40404390	AG10803	skin:	n/a	n/a
30	CTCF	chr19:40388500-40388650	NHEK	skin:	n/a	n/a
31	CTCF	chr19:40388479-40388687	MCF-7	breast:	n/a	n/a
32	CTCF	chr19:40404236-40404436	MCF-7	breast:	n/a	n/a
33	CTCF	chr19:40404220-40404370	AG09309	skin:	n/a	n/a
34	CTCF	chr19:40404220-40404370	HCFaa	heart:	n/a	n/a
35	CTCF	chr19:40404520-40404670	RPTEC	kidney:	n/a	n/a
36	CTCF	chr19:40388500-40388650	SAEC	small airway:	n/a	n/a
37	CTCF	chr19:40388500-40388650	HCFaa	heart:	n/a	n/a
38	CTCF	chr19:40404245-40404595	MCF-7	breast:	n/a	n/a
39	CTCF	chr19:40388500-40388650	HAc	cerebellar:	n/a	n/a
40	CTCF	chr19:40404240-40404390	HA-sp	spinal cord:	n/a	n/a
41	CTCF	chr19:40404240-40404390	HPF	lung:	n/a	n/a
42	CTCF	chr19:40388540-40388690	GM12871	blood:	n/a	n/a
43	CTCF	chr19:40388520-40388670	HMEC	breast:	n/a	n/a
44	CTCF	chr19:40401740-40401871	GM10266	blood:	n/a	n/a
45	CTCF	chr19:40398280-40398318	K562	blood:	n/a	n/a
46	CTCF	chr19:40404240-40404390	HepG2	liver:	n/a	n/a
47	CTCF	chr19:40388500-40388650	AG09319	gingival:	n/a	n/a
48	CTCF	chr19:40404260-40404410	GM12866	blood:	n/a	n/a
49	CTCF	chr19:40404060-40404210	HMEC	breast:	n/a	n/a
50	CTCF	chr19:40404217-40404475	GM19239	blood:	n/a	n/a

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40375973-40376023	HPAEpiC	pulmonary alveolar:	n/a
2	chr19:40375973-40376023	HPAEpiC	pulmonary alveolar:	n/a
3	chr19:40397977-40398027	NH-A	brain:	n/a
4	chr19:40391320-40391370	RPTEC	kidney:	n/a
5	chr19:40396538-40396588	Caco-2	colon:	n/a
6	chr19:40399454-40399504	Hela-S3	cervix:	n/a
7	chr19:40388677-40388727	SKMC	muscle:	n/a
8	chr19:40391320-40391370	NH-A	brain:	n/a
9	chr19:40377434-40377484	NH-A	brain:	n/a
10	chr19:40377434-40377484	ECC-1	luminal epithelium:	n/a
11	chr19:40377434-40377484	SKMC	muscle:	n/a
12	chr19:40380319-40380369	HCT-116	colon:	n/a
13	chr19:40398384-40398434	SK-N-SH	brain:	n/a
14	chr19:40393119-40393169	K562	blood:	n/a
15	chr19:40388677-40388727	PrEC	prostate:	n/a
16	chr19:40377434-40377484	HAEpiC	amniotic membrane:	n/a
17	chr19:40380319-40380369	HNPCEpiC	eye:	n/a
18	chr19:40399454-40399504	GM12891	blood:	n/a
19	chr19:40393119-40393169	AG04449	skin:	fetal
20	chr19:40380319-40380369	NHBE	bronchial:	n/a
21	chr19:40380853-40380903	HAEpiC	amniotic membrane:	n/a
22	chr19:40396032-40396082	K562	blood:	n/a
23	chr19:40391320-40391370	AG09309	skin:	n/a
24	chr19:40375973-40376023	SK-N-SH	brain:	n/a
25	chr19:40393119-40393169	AG09309	skin:	n/a
26	chr19:40391320-40391370	HCM	heart:	n/a
27	chr19:40391320-40391370	AG09319	gingival:	n/a
28	chr19:40380853-40380903	HRPEpiC	eye:	n/a
29	chr19:40396032-40396082	MCF10A-Er-Src	breast:	n/a
30	chr19:40393119-40393169	MCF10A-Er-Src	breast:	n/a
31	chr19:40380319-40380369	HCPEpiC	choroid plexus:	n/a
32	chr19:40397977-40398027	HCM	heart:	n/a
33	chr19:40396538-40396588	AG04449	skin:	fetal
34	chr19:40398384-40398434	NHBE	bronchial:	n/a
35	chr19:40375973-40376023	ProgFib	skin:	n/a
36	chr19:40376883-40376933	HRPEpiC	eye:	n/a
37	chr19:40379680-40379730	PFSK-1	brain:	n/a
38	chr19:40379680-40379730	Hepatocyte	liver:	n/a
39	chr19:40398384-40398434	HRE	kidney:	n/a
40	chr19:40399454-40399504	AG10803	skin:	n/a
41	chr19:40396032-40396082	BE2_C	brain:	n/a
42	chr19:40392568-40392618	PANC-1	pancreas:	n/a
43	chr19:40376883-40376933	GM12891	blood:	n/a
44	chr19:40380319-40380369	HCF	heart:	n/a
45	chr19:40392568-40392618	PrEC	prostate:	n/a
46	chr19:40380853-40380903	HCT-116	colon:	n/a
47	chr19:40380853-40380903	Jurkat	blood:	n/a
48	chr19:40397977-40398027	NT2-D1	testis:	n/a
49	chr19:40391320-40391370	GM19239	blood:	n/a
50	chr19:40392568-40392618	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40403844..40404724-chr19:40476336..40477181,3	MCF-7	breast:
2	chr19:40371890..40372866-chr19:40388384..40389142,3	MCF-7	breast:

No data

Variant related genes	Relation type
FCGBP	TF binding region
FCGBP	CpG island
ENSG00000013275	chromatin interactions

Extended variants
information (count: 1016 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1016 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531278123	chr19:40373268-40373269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7252449	chr19:40373271-40373272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs571070064	chr19:40373272-40373273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532313874	chr19:40373300-40373301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62106953	chr19:40373301-40373302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs2116957	chr19:40373302-40373303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566890668	chr19:40373318-40373319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139230954	chr19:40373333-40373334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555704227	chr19:40373361-40373362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370066067	chr19:40373372-40373373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2569771	chr19:40373417-40373418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs60338952	chr19:40373426-40373427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs5019525	chr19:40373458-40373459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs5019526	chr19:40373461-40373462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374420455	chr19:40373465-40373466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554156724	chr19:40373481-40373482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386809223	chr19:40373493-40373494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145318439	chr19:40373494-40373495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376977343	chr19:40373515-40373516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147870869	chr19:40373534-40373535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531314480	chr19:40373546-40373547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543105692	chr19:40373609-40373610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564786227	chr19:40373625-40373626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532158600	chr19:40373647-40373648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547533788	chr19:40373690-40373691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1975182	chr19:40373697-40373698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs529952938	chr19:40373707-40373708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549116296	chr19:40373711-40373712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs3845206	chr19:40373714-40373715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538387313	chr19:40373728-40373729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556675120	chr19:40373750-40373751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571905935	chr19:40373768-40373769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538877684	chr19:40373798-40373799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554317396	chr19:40373835-40373836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141566292	chr19:40373838-40373839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543264674	chr19:40373846-40373847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554186048	chr19:40373865-40373866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75805471	chr19:40373874-40373875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575629865	chr19:40373889-40373890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543146061	chr19:40373890-40373891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564653756	chr19:40373891-40373892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147898702	chr19:40373893-40373894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371315513	chr19:40373928-40373929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200958848	chr19:40373950-40373951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375546770	chr19:40373952-40373953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529982841	chr19:40373954-40373955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150558644	chr19:40373955-40373956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78698767	chr19:40373973-40373974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561293450	chr19:40374023-40374024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531723632	chr19:40374025-40374026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40361200-40374000	Weak transcription	Pancreas	Pancrea
2	chr19:40367000-40373400	Weak transcription	Fetal Stomach	stomach
3	chr19:40369800-40375800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr19:40369800-40402600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr19:40369800-40404000	Weak transcription	Colonic Mucosa	Colon
6	chr19:40371200-40402800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr19:40371200-40404000	Weak transcription	Primary T cells from cord blood	blood
8	chr19:40371400-40391000	Weak transcription	Fetal Intestine Small	intestine
9	chr19:40372800-40377800	Weak transcription	HepG2	liver
10	chr19:40377800-40378000	Enhancers	HepG2	liver
11	chr19:40388200-40389600	Enhancers	HepG2	liver
12	chr19:40388400-40388800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr19:40388400-40388800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr19:40388400-40388800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr19:40388400-40388800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:40388800-40399000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:40389400-40389800	Enhancers	Fetal Muscle Trunk	muscle
18	chr19:40389600-40391200	Weak transcription	HepG2	liver
19	chr19:40391000-40392000	Strong transcription	Fetal Intestine Small	intestine
20	chr19:40391200-40393000	Enhancers	HepG2	liver
21	chr19:40392000-40402800	Weak transcription	Fetal Intestine Small	intestine
22	chr19:40393000-40393200	Flanking Active TSS	HepG2	liver
23	chr19:40393000-40393800	Enhancers	Fetal Intestine Large	intestine
24	chr19:40393200-40393600	Enhancers	HepG2	liver
25	chr19:40393600-40393800	Active TSS	HepG2	liver
26	chr19:40393800-40404000	Weak transcription	Fetal Intestine Large	intestine
27	chr19:40396400-40404400	Weak transcription	Stomach Mucosa	stomach
28	chr19:40397400-40397800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr19:40397600-40397800	Weak transcription	Spleen	Spleen
30	chr19:40397600-40398000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:40397800-40398000	Enhancers	Fetal Muscle Trunk	muscle
32	chr19:40397800-40398000	Enhancers	Spleen	Spleen
33	chr19:40398000-40398800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr19:40398000-40402800	Weak transcription	Spleen	Spleen
35	chr19:40398000-40404000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:40399000-40399200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr19:40399000-40399200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:40399000-40399200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr19:40399000-40399200	Enhancers	Fetal Muscle Trunk	muscle
40	chr19:40399200-40399400	Active TSS	Primary T cells fromperipheralblood	blood
41	chr19:40399200-40403800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:40399200-40404000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr19:40399200-40411800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr19:40399400-40403800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr19:40400200-40410600	Weak transcription	Fetal Stomach	stomach
46	chr19:40401600-40403000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr19:40402000-40404000	Weak transcription	Placenta	Placenta
48	chr19:40402000-40419600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr19:40402600-40403600	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr19:40402600-40404000	Enhancers	HepG2	liver

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