Variant report

Variant	nsv1060498
Chromosome Location	chr19:41498733-41518773
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:156)
CpG islands
(count:428)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:156 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:41507311-41507499	K562	blood:	n/a	n/a
2	ARID3A	chr19:41506351-41506450	HepG2	liver:	n/a	n/a
3	ATF3	chr19:41506267-41506508	K562	blood:	n/a	n/a
4	ATF3	chr19:41506140-41506734	HCT-116	colon:	n/a	n/a
5	ATF3	chr19:41506069-41506786	HCT-116	colon:	n/a	n/a
6	BHLHE40	chr19:41507420-41507421	K562	blood:	n/a	n/a
7	CBX3	chr19:41505993-41506787	HCT-116	colon:	n/a	n/a
8	CEBPB	chr19:41506208-41506618	A549	lung:	n/a	chr19:41506435-41506446
9	CEBPB	chr19:41507152-41507489	K562	blood:	n/a	n/a
10	CEBPB	chr19:41506205-41506669	MCF-7	breast:	n/a	chr19:41506435-41506446
11	CEBPB	chr19:41506068-41507138	HCT-116	colon:	n/a	chr19:41506435-41506446
12	CEBPB	chr19:41506884-41506987	IMR90	lung:	n/a	n/a
13	CEBPB	chr19:41506189-41507135	A549	lung:	n/a	chr19:41506435-41506446
14	CEBPB	chr19:41507207-41507407	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr19:41506268-41506934	HepG2	liver:	n/a	chr19:41506435-41506446
16	CEBPB	chr19:41506256-41506628	Hela-S3	cervix:	n/a	chr19:41506435-41506446
17	CEBPB	chr19:41505976-41507518	HCT-116	colon:	n/a	chr19:41506435-41506446
18	CEBPB	chr19:41506263-41507465	K562	blood:	n/a	chr19:41506435-41506446
19	CEBPB	chr19:41506284-41507442	A549	lung:	n/a	chr19:41506435-41506446
20	CEBPB	chr19:41506244-41506603	ECC-1	luminal epithelium:	n/a	chr19:41506435-41506446
21	CREB1	chr19:41507218-41507529	K562	blood:	n/a	n/a
22	CTCF	chr19:41507249-41507410	MCF-7	breast:	n/a	n/a
23	CTCF	chr19:41507274-41507367	GM19240	blood:	n/a	n/a
24	CTCF	chr19:41507241-41507483	MCF-7	breast:	n/a	n/a
25	CTCF	chr19:41507222-41507435	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr19:41507297-41507364	NHEK	skin:	n/a	n/a
27	CTCF	chr19:41507248-41507425	MCF-7	breast:	n/a	n/a
28	CTCF	chr19:41507151-41507395	A549	lung:	n/a	n/a
29	CTCF	chr19:41507200-41507350	RPTEC	kidney:	n/a	n/a
30	CTCF	chr19:41507300-41507450	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr19:41515005-41515098	MCF-7	breast:	n/a	n/a
32	CTCF	chr19:41507302-41507365	A549	lung:	n/a	n/a
33	CTCF	chr19:41518660-41518829	MCF-7	breast:	n/a	chr19:41518752-41518762 chr19:41518750-41518763 chr19:41518747-41518765
34	CTCF	chr19:41507194-41507507	MCF-7	breast:	n/a	n/a
35	CTCF	chr19:41507260-41507410	K562	blood:	n/a	n/a
36	CTCF	chr19:41507215-41507476	K562	blood:	n/a	n/a
37	CTCF	chr19:41507196-41507510	K562	blood:	n/a	n/a
38	CTCF	chr19:41507134-41507522	A549	lung:	n/a	n/a
39	CTCF	chr19:41507142-41507427	K562	blood:	n/a	n/a
40	CTCF	chr19:41507320-41507470	HepG2	liver:	n/a	n/a
41	CTCF	chr19:41518640-41518790	MCF-7	breast:	n/a	chr19:41518752-41518762 chr19:41518750-41518763 chr19:41518747-41518765
42	CTCF	chr19:41507280-41507430	GM12873	blood:	n/a	n/a
43	CTCF	chr19:41507220-41507370	K562	blood:	n/a	n/a
44	CTCF	chr19:41507340-41507490	BE2_C	brain:	n/a	n/a
45	CTCF	chr19:41507280-41507430	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr19:41507226-41507461	MCF-7	breast:	n/a	n/a
47	CTCF	chr19:41507200-41507350	A549	lung:	n/a	n/a
48	CTCF	chr19:41507300-41507450	HEK293	kidney:	n/a	n/a
49	CTCF	chr19:41507220-41507370	MCF-7	breast:	n/a	n/a
50	CTCF	chr19:41507246-41507415	Gliobla	brain:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41510026-41510076	GM12878	blood:	n/a
2	chr19:41510026-41510076	GM12878	blood:	n/a
3	chr19:41510285-41510335	HIPEpiC	eye:	n/a
4	chr19:41510037-41510087	RPTEC	kidney:	n/a
5	chr19:41510285-41510335	AG09309	skin:	n/a
6	chr19:41510272-41510322	HMEC	breast:	n/a
7	chr19:41510285-41510335	NHBE	bronchial:	n/a
8	chr19:41510243-41510293	PrEC	prostate:	n/a
9	chr19:41510026-41510076	AG09309	skin:	n/a
10	chr19:41510059-41510109	AG09309	skin:	n/a
11	chr19:41510243-41510293	PFSK-1	brain:	n/a
12	chr19:41510285-41510335	HRE	kidney:	n/a
13	chr19:41510059-41510109	AoSMC	blood vessel:	n/a
14	chr19:41510272-41510322	GM12878	blood:	n/a
15	chr19:41510272-41510322	IMR90	lung:	fetal
16	chr19:41510059-41510109	RPTEC	kidney:	n/a
17	chr19:41510272-41510322	Caco-2	colon:	n/a
18	chr19:41510272-41510322	GM06990	blood:	n/a
19	chr19:41510037-41510087	U87	brain:	n/a
20	chr19:41510285-41510335	MCF10A-Er-Src	breast:	n/a
21	chr19:41510026-41510076	GM06990	blood:	n/a
22	chr19:41510285-41510335	A549	lung:	n/a
23	chr19:41510272-41510322	Hepatocyte	liver:	n/a
24	chr19:41510059-41510109	NH-A	brain:	n/a
25	chr19:41510037-41510087	GM19239	blood:	n/a
26	chr19:41510098-41510148	NHDF-neo	bronchial:	n/a
27	chr19:41510272-41510322	GM19239	blood:	n/a
28	chr19:41510243-41510293	AG09309	skin:	n/a
29	chr19:41510026-41510076	Caco-2	colon:	n/a
30	chr19:41510285-41510335	HCT-116	colon:	n/a
31	chr19:41510037-41510087	K562	blood:	n/a
32	chr19:41510098-41510148	Caco-2	colon:	n/a
33	chr19:41510272-41510322	HRE	kidney:	n/a
34	chr19:41510026-41510076	AoSMC	blood vessel:	n/a
35	chr19:41510059-41510109	SK-N-MC	brain:	n/a
36	chr19:41510059-41510109	AG04449	skin:	fetal
37	chr19:41510026-41510076	HPAEpiC	pulmonary alveolar:	n/a
38	chr19:41510272-41510322	AG04450	lung:	fetal
39	chr19:41510285-41510335	LNCaP	prostate:	n/a
40	chr19:41510026-41510076	HIPEpiC	eye:	n/a
41	chr19:41510272-41510322	ProgFib	skin:	n/a
42	chr19:41510243-41510293	ovcar-3	ovarian:	n/a
43	chr19:41510098-41510148	GM12892	blood:	n/a
44	chr19:41510285-41510335	BJ	skin:	n/a
45	chr19:41510243-41510293	ProgFib	skin:	n/a
46	chr19:41510272-41510322	SAEC	small airway:	n/a
47	chr19:41510098-41510148	AG09319	gingival:	n/a
48	chr19:41510059-41510109	HRCEpiC	kidney:	n/a
49	chr19:41510098-41510148	IMR90	lung:	fetal
50	chr19:41510285-41510335	T-47D	breast:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP2B6-1	chr19:41503762-41503928	l_1687_chr19:41492503-41503928_testes

No data

Variant related genes	Relation type
CYP2B6	TF binding region
CYP2B6	CpG island

Extended variants
information (count: 1176 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1176 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6508963	chr19:41498733-41498734	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528745412	chr19:41498757-41498758	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547337854	chr19:41498764-41498765	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373766689	chr19:41498788-41498789	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs60479290	chr19:41498805-41498806	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs16974790	chr19:41498946-41498947	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs115734479	chr19:41498975-41498976	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147426303	chr19:41498982-41498983	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188030678	chr19:41498983-41498984	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551415430	chr19:41498988-41498989	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539922228	chr19:41499011-41499012	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73933721	chr19:41499028-41499029	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs139730146	chr19:41499077-41499078	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs16974794	chr19:41499094-41499095	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs191502868	chr19:41499102-41499103	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145308182	chr19:41499132-41499133	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371247052	chr19:41499139-41499140	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369071898	chr19:41499168-41499169	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73559241	chr19:41499193-41499194	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs112692941	chr19:41499225-41499226	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577618663	chr19:41499254-41499255	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571264358	chr19:41499262-41499263	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183657353	chr19:41499298-41499299	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144975801	chr19:41499312-41499313	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149087913	chr19:41499328-41499329	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540861470	chr19:41499351-41499352	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374202511	chr19:41499370-41499371	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186804901	chr19:41499396-41499397	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529658326	chr19:41499452-41499453	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34529386	chr19:41499453-41499454	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200229848	chr19:41499467-41499468	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550944057	chr19:41499477-41499478	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142110274	chr19:41499490-41499491	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567699888	chr19:41499515-41499516	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528475071	chr19:41499522-41499523	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551875435	chr19:41499539-41499540	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151181975	chr19:41499649-41499650	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368924129	chr19:41499650-41499651	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140071764	chr19:41499677-41499678	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567222010	chr19:41499748-41499749	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537753170	chr19:41499749-41499750	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10426235	chr19:41499816-41499817	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs77654948	chr19:41499862-41499863	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2014141	chr19:41499989-41499990	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs111700983	chr19:41500015-41500016	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs8192710	chr19:41500044-41500045	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs191276512	chr19:41500045-41500046	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs16974703	chr19:41500049-41500050	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs8192711	chr19:41500057-41500058	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs185670000	chr19:41500112-41500113	Active TSS Transcr. at gene 5' and 3' 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
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	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41496800-41499200	Enhancers	Fetal Intestine Small	intestine
2	chr19:41497000-41499400	Active TSS	Liver	Liver
3	chr19:41497400-41500200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:41499200-41501600	Weak transcription	Fetal Intestine Small	intestine
5	chr19:41499400-41499600	Flanking Active TSS	Liver	Liver
6	chr19:41499600-41501400	Transcr. at gene 5' and 3'	Liver	Liver
7	chr19:41501400-41502200	Active TSS	Liver	Liver
8	chr19:41501600-41502400	Enhancers	Fetal Intestine Small	intestine
9	chr19:41502200-41503600	Weak transcription	Liver	Liver
10	chr19:41502400-41505600	Weak transcription	Fetal Intestine Small	intestine
11	chr19:41503600-41504200	Genic enhancers	Liver	Liver
12	chr19:41504200-41505600	Weak transcription	Liver	Liver
13	chr19:41505600-41506200	Enhancers	Stomach Mucosa	stomach
14	chr19:41505600-41508000	Genic enhancers	Liver	Liver
15	chr19:41505600-41509400	Enhancers	Fetal Intestine Small	intestine
16	chr19:41505800-41506400	Enhancers	Duodenum Mucosa	Duodenum
17	chr19:41505800-41506400	Flanking Active TSS	A549	lung
18	chr19:41505800-41506600	Enhancers	HMEC	breast
19	chr19:41505800-41507400	Enhancers	Fetal Intestine Large	intestine
20	chr19:41506000-41506200	Bivalent Enhancer	Small Intestine	intestine
21	chr19:41506000-41506400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr19:41506000-41506400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:41506200-41506400	Enhancers	K562	blood
24	chr19:41506200-41506600	Enhancers	Hela-S3	cervix
25	chr19:41506400-41506600	Enhancers	A549	lung
26	chr19:41506400-41507600	Weak transcription	K562	blood
27	chr19:41506400-41509000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:41506400-41509200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr19:41506600-41509400	Weak transcription	A549	lung
30	chr19:41506800-41507000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr19:41507000-41507200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr19:41507400-41509000	Weak transcription	Fetal Intestine Large	intestine
33	chr19:41507400-41529200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr19:41507600-41507800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr19:41507600-41508000	Enhancers	K562	blood
36	chr19:41508000-41511800	Strong transcription	Liver	Liver
37	chr19:41508000-41522400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:41508200-41509400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr19:41509000-41509200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr19:41509000-41510400	Enhancers	Fetal Intestine Large	intestine
41	chr19:41509200-41509400	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr19:41509200-41509600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr19:41509200-41509800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr19:41509200-41509800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr19:41509200-41510400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr19:41509400-41509600	Enhancers	Colonic Mucosa	Colon
47	chr19:41509400-41509600	Enhancers	Duodenum Mucosa	Duodenum
48	chr19:41509400-41509600	Enhancers	Fetal Kidney	kidney
49	chr19:41509400-41509800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr19:41509400-41509800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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