Variant report

Variant	nsv177
Chromosome Location	chr19:40373577-40389255
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	chr19:40377903-40377918	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:40388564-40388584	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	chr19:40388500-40388650	AG10803	skin:	n/a	n/a
7	CTCF	chr19:40388495-40388693	GM19239	blood:	n/a	n/a
8	CTCF	chr19:40388448-40388745	K562	blood:	n/a	n/a
9	CTCF	chr19:40388520-40388670	HA-sp	spinal cord:	n/a	n/a
10	CTCF	chr19:40388500-40388650	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr19:40388520-40388670	WI-38	lung:	n/a	n/a
12	CTCF	chr19:40388478-40388688	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr19:40388511-40388672	Kidney_OC	kidney:	n/a	n/a
14	CTCF	chr19:40388489-40388685	MCF-7	breast:	n/a	n/a
15	CTCF	chr19:40388473-40388709	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr19:40388520-40388670	GM12868	blood:	n/a	n/a
17	CTCF	chr19:40388773-40388789	GM10248	blood:	n/a	n/a
18	CTCF	chr19:40388500-40388650	HCFaa	heart:	n/a	n/a
19	CTCF	chr19:40388511-40388709	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr19:40388540-40388690	GM12868	blood:	n/a	n/a
21	CTCF	chr19:40388540-40388690	HCT-116	colon:	n/a	n/a
22	CTCF	chr19:40388503-40388714	Pancreas_OC	pancreas:	n/a	n/a
23	CTCF	chr19:40388420-40388570	HL-60	blood:	n/a	n/a
24	CTCF	chr19:40388500-40388650	HCPEpiC	choroid plexus:	n/a	n/a
25	CTCF	chr19:40388500-40388650	GM12865	blood:	n/a	n/a
26	CTCF	chr19:40388481-40388696	GM19240	blood:	n/a	n/a
27	CTCF	chr19:40388443-40388766	GM12878	blood:	n/a	n/a
28	CTCF	chr19:40388500-40388650	K562	blood:	n/a	n/a
29	CTCF	chr19:40388426-40388881	K562	blood:	n/a	n/a
30	CTCF	chr19:40388480-40388693	K562	blood:	n/a	n/a
31	CTCF	chr19:40388480-40388630	GM12878	blood:	n/a	n/a
32	CTCF	chr19:40388820-40388970	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr19:40388720-40388870	HBMEC	blood vessel:	n/a	n/a
34	CTCF	chr19:40388365-40388850	A549	lung:	n/a	n/a
35	CTCF	chr19:40388500-40388650	AG09319	gingival:	n/a	n/a
36	CTCF	chr19:40388491-40388735	GM13977	blood:	n/a	n/a
37	CTCF	chr19:40388507-40388677	HepG2	liver:	n/a	n/a
38	CTCF	chr19:40388522-40388673	ProgFib	skin:	n/a	n/a
39	CTCF	chr19:40388712-40388768	GM10248	blood:	n/a	n/a
40	CTCF	chr19:40388520-40388681	Fibrobl	skin:	n/a	n/a
41	CTCF	chr19:40387947-40388016	GM13976	blood:	n/a	n/a
42	CTCF	chr19:40388500-40388650	SAEC	small airway:	n/a	n/a
43	CTCF	chr19:40388500-40388650	GM12878	blood:	n/a	n/a
44	CTCF	chr19:40388478-40388693	Medullo	brain:	n/a	n/a
45	CTCF	chr19:40388493-40388679	GM20000	blood:	n/a	n/a
46	CTCF	chr19:40388500-40388650	GM12874	blood:	n/a	n/a
47	CTCF	chr19:40388500-40388650	WERI-Rb-1	eye:	n/a	n/a
48	CTCF	chr19:40388500-40388650	GM06990	blood:	n/a	n/a
49	CTCF	chr19:40388479-40388687	MCF-7	breast:	n/a	n/a
50	CTCF	chr19:40388500-40388650	HUVEC	blood vessel:	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	Jurkat	blood:	n/a
2	chr19:40375973-40376023	GM12892	blood:	n/a
3	chr19:40379680-40379730	Hela-S3	cervix:	n/a
4	chr19:40380853-40380903	A549	lung:	n/a
5	chr19:40376883-40376933	MCF10A-Er-Src	breast:	n/a
6	chr19:40375973-40376023	RPTEC	kidney:	n/a
7	chr19:40388677-40388727	PANC-1	pancreas:	n/a
8	chr19:40379680-40379730	PFSK-1	brain:	n/a
9	chr19:40377434-40377484	LNCaP	prostate:	n/a
10	chr19:40380853-40380903	BJ	skin:	n/a
11	chr19:40380853-40380903	HNPCEpiC	eye:	n/a
12	chr19:40379680-40379730	K562	blood:	n/a
13	chr19:40388677-40388727	AG04450	lung:	fetal
14	chr19:40375973-40376023	NHDF-neo	bronchial:	n/a
15	chr19:40380853-40380903	K562	blood:	n/a
16	chr19:40379680-40379730	GM12892	blood:	n/a
17	chr19:40380319-40380369	H1-hESC	embryonic stem cell:	embryo
18	chr19:40380319-40380369	Hepatocyte	liver:	n/a
19	chr19:40376883-40376933	SKMC	muscle:	n/a
20	chr19:40380319-40380369	GM12891	blood:	n/a
21	chr19:40375973-40376023	H1-hESC	embryonic stem cell:	embryo
22	chr19:40380319-40380369	NT2-D1	testis:	n/a
23	chr19:40376883-40376933	K562	blood:	n/a
24	chr19:40375973-40376023	PANC-1	pancreas:	n/a
25	chr19:40377434-40377484	SK-N-SH_RA	brain:	n/a
26	chr19:40379680-40379730	HCPEpiC	choroid plexus:	n/a
27	chr19:40388677-40388727	SKMC	muscle:	n/a
28	chr19:40380319-40380369	ProgFib	skin:	n/a
29	chr19:40379680-40379730	AG09319	gingival:	n/a
30	chr19:40380853-40380903	AG04449	skin:	fetal
31	chr19:40388677-40388727	CMK	blood:	n/a
32	chr19:40376883-40376933	HCPEpiC	choroid plexus:	n/a
33	chr19:40379680-40379730	SK-N-SH	brain:	n/a
34	chr19:40379680-40379730	GM12891	blood:	n/a
35	chr19:40380853-40380903	AG09309	skin:	n/a
36	chr19:40380853-40380903	NT2-D1	testis:	n/a
37	chr19:40388677-40388727	HepG2	liver:	n/a
38	chr19:40375973-40376023	SK-N-SH	brain:	n/a
39	chr19:40388677-40388727	GM12892	blood:	n/a
40	chr19:40380319-40380369	ECC-1	luminal epithelium:	n/a
41	chr19:40380319-40380369	LNCaP	prostate:	n/a
42	chr19:40377434-40377484	HRE	kidney:	n/a
43	chr19:40388677-40388727	MCF-7	breast:	n/a
44	chr19:40380319-40380369	RPTEC	kidney:	n/a
45	chr19:40380853-40380903	SKMC	muscle:	n/a
46	chr19:40380853-40380903	HRE	kidney:	n/a
47	chr19:40380853-40380903	HUVEC	blood vessel:	n/a
48	chr19:40375973-40376023	MCF10A-Er-Src	breast:	n/a
49	chr19:40377434-40377484	SK-N-MC	brain:	n/a
50	chr19:40375973-40376023	NT2-D1	testis:	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: 442 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:442 , 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	rs543105692	chr19:40373609-40373610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564786227	chr19:40373625-40373626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532158600	chr19:40373647-40373648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547533788	chr19:40373690-40373691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1975182	chr19:40373697-40373698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529952938	chr19:40373707-40373708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549116296	chr19:40373711-40373712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs3845206	chr19:40373714-40373715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538387313	chr19:40373728-40373729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556675120	chr19:40373750-40373751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571905935	chr19:40373768-40373769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538877684	chr19:40373798-40373799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554317396	chr19:40373835-40373836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141566292	chr19:40373838-40373839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543264674	chr19:40373846-40373847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554186048	chr19:40373865-40373866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75805471	chr19:40373874-40373875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575629865	chr19:40373889-40373890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543146061	chr19:40373890-40373891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564653756	chr19:40373891-40373892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147898702	chr19:40373893-40373894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371315513	chr19:40373928-40373929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200958848	chr19:40373950-40373951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375546770	chr19:40373952-40373953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529982841	chr19:40373954-40373955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150558644	chr19:40373955-40373956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78698767	chr19:40373973-40373974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561293450	chr19:40374023-40374024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531723632	chr19:40374025-40374026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138587194	chr19:40374034-40374035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550167067	chr19:40374056-40374057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147259660	chr19:40374072-40374073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571794043	chr19:40374085-40374086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539079341	chr19:40374094-40374095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79395881	chr19:40374186-40374187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566255210	chr19:40374202-40374203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62106954	chr19:40374216-40374217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201934809	chr19:40374229-40374230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200348234	chr19:40374286-40374287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576292551	chr19:40374317-40374318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536668964	chr19:40374328-40374329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558082938	chr19:40374370-40374371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2436548	chr19:40374374-40374375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7256043	chr19:40374418-40374419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62106955	chr19:40374472-40374473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541108927	chr19:40374473-40374474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185084639	chr19:40374562-40374563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2262803	chr19:40374564-40374565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188801239	chr19:40374580-40374581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542181173	chr19:40374592-40374593	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40361200-40374000	Weak transcription	Pancreas	Pancrea
2	chr19:40369800-40375800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr19:40369800-40402600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr19:40369800-40404000	Weak transcription	Colonic Mucosa	Colon
5	chr19:40371200-40402800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr19:40371200-40404000	Weak transcription	Primary T cells from cord blood	blood
7	chr19:40371400-40391000	Weak transcription	Fetal Intestine Small	intestine
8	chr19:40372800-40377800	Weak transcription	HepG2	liver
9	chr19:40377800-40378000	Enhancers	HepG2	liver
10	chr19:40388200-40389600	Enhancers	HepG2	liver
11	chr19:40388400-40388800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr19:40388400-40388800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr19:40388400-40388800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr19:40388400-40388800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:40388800-40399000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links