Variant report

Variant	nsv1060617
Chromosome Location	chr19:40358986-40393809
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:693)
CpG islands
(count:1346)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:693 , 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	chr19:40388564-40388584	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:40372209-40372386	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:40377903-40377918	HepG2	liver:	n/a	n/a
4	ATF1	chr19:40372283-40372483	K562	blood:	n/a	n/a
5	ATF2	chr19:40372203-40372491	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr19:40372199-40372449	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL11A	chr19:40372229-40372663	GM12878	blood:	n/a	chr19:40372417-40372430
8	BHLHE40	chr19:40372174-40372382	GM12878	blood:	n/a	n/a
9	BHLHE40	chr19:40378004-40378342	HepG2	liver:	n/a	n/a
10	BHLHE40	chr19:40372341-40372378	HepG2	liver:	n/a	n/a
11	BHLHE40	chr19:40393689-40394027	HepG2	liver:	n/a	n/a
12	BHLHE40	chr19:40372310-40372375	K562	blood:	n/a	n/a
13	CBX3	chr19:40372094-40372533	K562	blood:	n/a	n/a
14	CEBPB	chr19:40369307-40369516	HepG2	liver:	n/a	n/a
15	CEBPB	chr19:40388532-40388555	Hela-S3	cervix:	n/a	n/a
16	CHD2	chr19:40388541-40388748	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr19:40372280-40372430	GM12866	blood:	n/a	n/a
18	CTCF	chr19:40372280-40372430	HVMF	connective:	n/a	n/a
19	CTCF	chr19:40388500-40388650	K562	blood:	n/a	n/a
20	CTCF	chr19:40388471-40388692	NHEK	skin:	n/a	n/a
21	CTCF	chr19:40388500-40388650	GM12875	blood:	n/a	n/a
22	CTCF	chr19:40372235-40372423	T-47D	breast:	n/a	n/a
23	CTCF	chr19:40372212-40372474	GM19239	blood:	n/a	chr19:40372450-40372463
24	CTCF	chr19:40388500-40388650	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr19:40382607-40382730	K562	blood:	n/a	n/a
26	CTCF	chr19:40372134-40372555	A549	lung:	n/a	chr19:40372450-40372463
27	CTCF	chr19:40388733-40388735	LNCaP	prostate:	n/a	n/a
28	CTCF	chr19:40372240-40372390	BJ	skin:	n/a	n/a
29	CTCF	chr19:40372178-40372518	GM10266	blood:	n/a	chr19:40372450-40372463
30	CTCF	chr19:40372280-40372430	GM06990	blood:	n/a	n/a
31	CTCF	chr19:40388473-40388765	LNCaP	prostate:	n/a	n/a
32	CTCF	chr19:40372640-40372790	GM06990	blood:	n/a	n/a
33	CTCF	chr19:40382398-40382766	K562	blood:	n/a	n/a
34	CTCF	chr19:40388500-40388650	NHEK	skin:	n/a	n/a
35	CTCF	chr19:40372240-40372390	SAEC	small airway:	n/a	n/a
36	CTCF	chr19:40372280-40372430	GM12865	blood:	n/a	n/a
37	CTCF	chr19:40372280-40372430	GM12873	blood:	n/a	n/a
38	CTCF	chr19:40388500-40388650	HEEpiC	esophagus:	n/a	n/a
39	CTCF	chr19:40388478-40388688	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr19:40388773-40388789	GM10248	blood:	n/a	n/a
41	CTCF	chr19:40372210-40372497	GM13977	blood:	n/a	chr19:40372450-40372463
42	CTCF	chr19:40388270-40388904	A549	lung:	n/a	n/a
43	CTCF	chr19:40372224-40372474	GM13976	blood:	n/a	chr19:40372450-40372463
44	CTCF	chr19:40388480-40388693	K562	blood:	n/a	n/a
45	CTCF	chr19:40388500-40388650	HMEC	breast:	n/a	n/a
46	CTCF	chr19:40372260-40372410	AG10803	skin:	n/a	n/a
47	CTCF	chr19:40372300-40372450	A549	lung:	n/a	n/a
48	CTCF	chr19:40372123-40372643	K562	blood:	n/a	chr19:40372450-40372463
49	CTCF	chr19:40388760-40388910	RPTEC	kidney:	n/a	n/a
50	CTCF	chr19:40388426-40388881	K562	blood:	n/a	n/a

(count:1346 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40368363-40368413	SKMC	muscle:	n/a
2	chr19:40372977-40373027	HepG2	liver:	n/a
3	chr19:40377434-40377484	GM19239	blood:	n/a
4	chr19:40388677-40388727	MCF10A-Er-Src	breast:	n/a
5	chr19:40368363-40368413	SKMC	muscle:	n/a
6	chr19:40372977-40373027	HepG2	liver:	n/a
7	chr19:40377434-40377484	GM19239	blood:	n/a
8	chr19:40388677-40388727	MCF10A-Er-Src	breast:	n/a
9	chr19:40380319-40380369	IMR90	lung:	fetal
10	chr19:40380319-40380369	HRCEpiC	kidney:	n/a
11	chr19:40375973-40376023	BE2_C	brain:	n/a
12	chr19:40380853-40380903	SK-N-SH_RA	brain:	n/a
13	chr19:40368363-40368413	GM12892	blood:	n/a
14	chr19:40362773-40362823	ProgFib	skin:	n/a
15	chr19:40388677-40388727	GM12892	blood:	n/a
16	chr19:40359249-40359299	NB4	blood:	n/a
17	chr19:40388677-40388727	SKMC	muscle:	n/a
18	chr19:40376883-40376933	CMK	blood:	n/a
19	chr19:40380319-40380369	Caco-2	colon:	n/a
20	chr19:40362928-40362978	PANC-1	pancreas:	n/a
21	chr19:40359249-40359299	GM12892	blood:	n/a
22	chr19:40366394-40366444	AG09319	gingival:	n/a
23	chr19:40392568-40392618	U87	brain:	n/a
24	chr19:40359249-40359299	AG10803	skin:	n/a
25	chr19:40366607-40366657	SK-N-MC	brain:	n/a
26	chr19:40362773-40362823	GM12891	blood:	n/a
27	chr19:40392568-40392618	Caco-2	colon:	n/a
28	chr19:40380319-40380369	HEK293	kidney:	embryo
29	chr19:40359249-40359299	HL-60	blood:	n/a
30	chr19:40368830-40368880	SK-N-SH_RA	brain:	n/a
31	chr19:40366088-40366138	RPTEC	kidney:	n/a
32	chr19:40359249-40359299	ProgFib	skin:	n/a
33	chr19:40366607-40366657	IMR90	lung:	fetal
34	chr19:40393119-40393169	ovcar-3	ovarian:	n/a
35	chr19:40377434-40377484	BE2_C	brain:	n/a
36	chr19:40393119-40393169	H1-hESC	embryonic stem cell:	embryo
37	chr19:40366088-40366138	MCF-7	breast:	n/a
38	chr19:40368363-40368413	PANC-1	pancreas:	n/a
39	chr19:40362928-40362978	HRCEpiC	kidney:	n/a
40	chr19:40380853-40380903	SAEC	small airway:	n/a
41	chr19:40377434-40377484	ECC-1	luminal epithelium:	n/a
42	chr19:40368363-40368413	NHDF-neo	bronchial:	n/a
43	chr19:40362773-40362823	AG04449	skin:	fetal
44	chr19:40366088-40366138	H1-hESC	embryonic stem cell:	embryo
45	chr19:40376883-40376933	U87	brain:	n/a
46	chr19:40376883-40376933	GM12878	blood:	n/a
47	chr19:40377434-40377484	AoSMC	blood vessel:	n/a
48	chr19:40364151-40364201	GM12891	blood:	n/a
49	chr19:40377434-40377484	HNPCEpiC	eye:	n/a
50	chr19:40362773-40362823	SK-N-SH_RA	brain:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40357371..40360227-chr19:40360263..40362766,2	MCF-7	breast:
2	chr19:40371890..40372866-chr19:40388384..40389142,3	MCF-7	breast:
3	chr19:40371890..40372866-chr19:40388384..40389142,3	MCF-7	breast:
4	chr19:40371880..40372846-chr19:40476486..40477439,2	MCF-7	breast:
5	chr19:40357371..40360227-chr19:40360263..40362766,2	MCF-7	breast:

No data

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

Extended variants
information (count: 1473 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1473 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200334589	chr19:40359017-40359018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12985924	chr19:40359028-40359029	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs558801781	chr19:40359070-40359071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28613207	chr19:40359071-40359072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547926373	chr19:40359144-40359145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35653410	chr19:40359169-40359170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371575920	chr19:40359171-40359172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563020768	chr19:40359172-40359173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377477192	chr19:40359174-40359175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370931506	chr19:40359178-40359179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs36122083	chr19:40359220-40359221	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs562298790	chr19:40359249-40359250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537530169	chr19:40359250-40359251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4803301	chr19:40359276-40359277	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs531873421	chr19:40359279-40359280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34747505	chr19:40359288-40359289	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566118141	chr19:40359300-40359301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536627576	chr19:40359376-40359377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555136504	chr19:40359420-40359421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576625772	chr19:40359431-40359432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537121933	chr19:40359441-40359442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141690562	chr19:40359530-40359531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7252463	chr19:40359556-40359557	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs58606131	chr19:40359573-40359574	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs559613077	chr19:40359655-40359656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551971240	chr19:40359798-40359799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541406532	chr19:40359823-40359824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6508917	chr19:40359830-40359831	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs530651118	chr19:40359836-40359837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540956719	chr19:40359844-40359845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112845311	chr19:40359871-40359872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150080556	chr19:40359872-40359873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554128909	chr19:40359878-40359879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138665668	chr19:40359926-40359927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528262803	chr19:40359946-40359947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375152911	chr19:40359963-40359964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376511115	chr19:40359968-40359969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539868272	chr19:40359969-40359970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546902005	chr19:40359973-40359974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71171537	chr19:40359984-40359985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79991921	chr19:40359985-40359986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144055518	chr19:40359998-40359999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535714416	chr19:40360027-40360028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112194806	chr19:40360036-40360037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548625775	chr19:40360079-40360080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570021032	chr19:40360083-40360084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367654562	chr19:40360091-40360092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147323953	chr19:40360108-40360109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558776173	chr19:40360110-40360111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141070016	chr19:40360111-40360112	Weak transcription Strong 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:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40349800-40369000	Weak transcription	Brain Anterior Caudate	brain
2	chr19:40350400-40372200	Weak transcription	Dnd41	blood
3	chr19:40350600-40365200	Weak transcription	Placenta	Placenta
4	chr19:40351000-40361000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr19:40352000-40363200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr19:40352000-40364200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr19:40352000-40372600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr19:40352400-40372400	Weak transcription	Fetal Intestine Large	intestine
9	chr19:40352600-40364000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr19:40352800-40360600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:40352800-40360600	Weak transcription	Spleen	Spleen
12	chr19:40353400-40366000	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr19:40353600-40360000	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr19:40354200-40370800	Weak transcription	Fetal Brain Female	brain
15	chr19:40354400-40362600	Weak transcription	Gastric	stomach
16	chr19:40354600-40362800	Weak transcription	Stomach Mucosa	stomach
17	chr19:40354600-40372200	Weak transcription	HepG2	liver
18	chr19:40355200-40372200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr19:40355800-40367200	Strong transcription	Primary T cells from cord blood	blood
20	chr19:40356000-40359000	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr19:40356200-40364400	Strong transcription	Fetal Intestine Small	intestine
22	chr19:40356200-40364600	Strong transcription	Colonic Mucosa	Colon
23	chr19:40356200-40365800	Strong transcription	Fetal Stomach	stomach
24	chr19:40357000-40362600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr19:40357200-40359800	Strong transcription	Fetal Muscle Leg	muscle
26	chr19:40358000-40364000	Weak transcription	Primary B cells from cord blood	blood
27	chr19:40358200-40360600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr19:40358400-40372200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:40358600-40360600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:40358600-40363800	Weak transcription	Right Atrium	heart
31	chr19:40358800-40360400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr19:40359000-40360400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr19:40359800-40369600	Weak transcription	Fetal Muscle Leg	muscle
34	chr19:40360000-40361600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr19:40360400-40360600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr19:40360400-40363200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr19:40360400-40367000	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr19:40360600-40360800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr19:40360600-40360800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr19:40360600-40360800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
41	chr19:40360600-40360800	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr19:40360600-40361000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr19:40360600-40361200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr19:40360600-40361200	ZNF genes & repeats	Spleen	Spleen
45	chr19:40360600-40361400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr19:40360600-40361400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr19:40360600-40361400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:40360600-40361400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:40360600-40366200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr19:40360800-40361000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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