Variant report

Variant	nsv1058051
Chromosome Location	chr19:41497274-41558271
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:403)
CpG islands
(count:918)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	ATF1	chr19:41551132-41551364	K562	blood:	n/a	n/a
4	ATF3	chr19:41506267-41506508	K562	blood:	n/a	n/a
5	ATF3	chr19:41506140-41506734	HCT-116	colon:	n/a	n/a
6	ATF3	chr19:41506069-41506786	HCT-116	colon:	n/a	n/a
7	ATF3	chr19:41545692-41546096	K562	blood:	n/a	n/a
8	BACH1	chr19:41545740-41546031	K562	blood:	n/a	n/a
9	BACH1	chr19:41545723-41546056	H1-hESC	embryonic stem cell:	n/a	n/a
10	BHLHE40	chr19:41507420-41507421	K562	blood:	n/a	n/a
11	CBX3	chr19:41505993-41506787	HCT-116	colon:	n/a	n/a
12	CBX3	chr19:41545744-41546043	K562	blood:	n/a	n/a
13	CBX3	chr19:41545730-41546088	K562	blood:	n/a	n/a
14	CEBPB	chr19:41506189-41507135	A549	lung:	n/a	chr19:41506435-41506446
15	CEBPB	chr19:41506068-41507138	HCT-116	colon:	n/a	chr19:41506435-41506446
16	CEBPB	chr19:41506205-41506669	MCF-7	breast:	n/a	chr19:41506435-41506446
17	CEBPB	chr19:41548015-41548148	A549	lung:	n/a	n/a
18	CEBPB	chr19:41506884-41506987	IMR90	lung:	n/a	n/a
19	CEBPB	chr19:41537723-41538348	MCF-7	breast:	n/a	chr19:41537946-41537958
20	CEBPB	chr19:41537932-41538128	Hela-S3	cervix:	n/a	chr19:41537946-41537958
21	CEBPB	chr19:41507207-41507407	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr19:41506268-41506934	HepG2	liver:	n/a	chr19:41506435-41506446
23	CEBPB	chr19:41506263-41507465	K562	blood:	n/a	chr19:41506435-41506446
24	CEBPB	chr19:41505976-41507518	HCT-116	colon:	n/a	chr19:41506435-41506446
25	CEBPB	chr19:41506244-41506603	ECC-1	luminal epithelium:	n/a	chr19:41506435-41506446
26	CEBPB	chr19:41506284-41507442	A549	lung:	n/a	chr19:41506435-41506446
27	CEBPB	chr19:41506256-41506628	Hela-S3	cervix:	n/a	chr19:41506435-41506446
28	CEBPB	chr19:41507152-41507489	K562	blood:	n/a	n/a
29	CEBPB	chr19:41506208-41506618	A549	lung:	n/a	chr19:41506435-41506446
30	CEBPB	chr19:41537730-41538295	MCF-7	breast:	n/a	chr19:41537946-41537958
31	CREB1	chr19:41507218-41507529	K562	blood:	n/a	n/a
32	CTCF	chr19:41536720-41536870	HVMF	connective:	n/a	n/a
33	CTCF	chr19:41529253-41529338	MCF-7	breast:	n/a	n/a
34	CTCF	chr19:41529198-41529382	A549	lung:	n/a	n/a
35	CTCF	chr19:41507240-41507390	A549	lung:	n/a	n/a
36	CTCF	chr19:41529256-41529363	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr19:41510420-41510570	K562	blood:	n/a	n/a
38	CTCF	chr19:41507180-41507330	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr19:41529118-41529455	A549	lung:	n/a	n/a
40	CTCF	chr19:41507200-41507350	RPTEC	kidney:	n/a	n/a
41	CTCF	chr19:41507280-41507430	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr19:41507260-41507410	K562	blood:	n/a	n/a
43	CTCF	chr19:41507305-41507354	GM12891	blood:	n/a	n/a
44	CTCF	chr19:41507226-41507461	MCF-7	breast:	n/a	n/a
45	CTCF	chr19:41507142-41507427	K562	blood:	n/a	n/a
46	CTCF	chr19:41557934-41557963	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr19:41536680-41536830	BJ	skin:	n/a	n/a
48	CTCF	chr19:41507241-41507483	MCF-7	breast:	n/a	n/a
49	CTCF	chr19:41529248-41529370	MCF-7	breast:	n/a	n/a
50	CTCF	chr19:41529260-41529410	HCT-116	colon:	n/a	n/a

(count:918 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41531805-41531855	HAEpiC	amniotic membrane:	n/a
2	chr19:41510059-41510109	AG09309	skin:	n/a
3	chr19:41510285-41510335	AG04449	skin:	fetal
4	chr19:41531805-41531855	HAEpiC	amniotic membrane:	n/a
5	chr19:41510059-41510109	AG09309	skin:	n/a
6	chr19:41510285-41510335	AG04449	skin:	fetal
7	chr19:41531805-41531855	A549	lung:	n/a
8	chr19:41524298-41524348	NH-A	brain:	n/a
9	chr19:41524298-41524348	MCF-7	breast:	n/a
10	chr19:41510285-41510335	HUVEC	blood vessel:	n/a
11	chr19:41524298-41524348	HCF	heart:	n/a
12	chr19:41533888-41533938	HCF	heart:	n/a
13	chr19:41510026-41510076	HL-60	blood:	n/a
14	chr19:41510059-41510109	AG04450	lung:	fetal
15	chr19:41524298-41524348	GM12878	blood:	n/a
16	chr19:41533888-41533938	GM12892	blood:	n/a
17	chr19:41510037-41510087	Hepatocyte	liver:	n/a
18	chr19:41510026-41510076	HCPEpiC	choroid plexus:	n/a
19	chr19:41510285-41510335	K562	blood:	n/a
20	chr19:41510243-41510293	ovcar-3	ovarian:	n/a
21	chr19:41524298-41524348	HEEpiC	esophagus:	n/a
22	chr19:41510037-41510087	NH-A	brain:	n/a
23	chr19:41531916-41531966	ECC-1	luminal epithelium:	n/a
24	chr19:41510243-41510293	SKMC	muscle:	n/a
25	chr19:41533888-41533938	BE2_C	brain:	n/a
26	chr19:41510098-41510148	GM06990	blood:	n/a
27	chr19:41535072-41535122	HCM	heart:	n/a
28	chr19:41510272-41510322	IMR90	lung:	fetal
29	chr19:41533888-41533938	ProgFib	skin:	n/a
30	chr19:41527828-41527878	GM19239	blood:	n/a
31	chr19:41535072-41535122	SK-N-MC	brain:	n/a
32	chr19:41531634-41531684	HMEC	breast:	n/a
33	chr19:41510098-41510148	HepG2	liver:	n/a
34	chr19:41531976-41532026	AG10803	skin:	n/a
35	chr19:41510243-41510293	PANC-1	pancreas:	n/a
36	chr19:41510285-41510335	H1-hESC	embryonic stem cell:	embryo
37	chr19:41510243-41510293	Hela-S3	cervix:	n/a
38	chr19:41510098-41510148	ProgFib	skin:	n/a
39	chr19:41510059-41510109	HCF	heart:	n/a
40	chr19:41510272-41510322	SK-N-MC	brain:	n/a
41	chr19:41531634-41531684	AG10803	skin:	n/a
42	chr19:41533888-41533938	AG04449	skin:	fetal
43	chr19:41510243-41510293	HNPCEpiC	eye:	n/a
44	chr19:41533888-41533938	AG10803	skin:	n/a
45	chr19:41531634-41531684	GM19239	blood:	n/a
46	chr19:41510243-41510293	SK-N-SH	brain:	n/a
47	chr19:41527828-41527878	MCF10A-Er-Src	breast:	n/a
48	chr19:41510026-41510076	AoSMC	blood vessel:	n/a
49	chr19:41510059-41510109	A549	lung:	n/a
50	chr19:41533888-41533938	HCM	heart:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41426562..41427465-chr19:41557958..41558773,3	MCF-7	breast:
2	chr19:41528977..41530590-chr19:41532130..41533740,2	K562	blood:
3	chr19:41558214..41561207-chr19:41573889..41576480,2	K562	blood:

(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
CYP2A7P1	TF binding region
CYP2B6	CpG island
CYP2A7P1	CpG island
ENSG00000213908	chromatin interactions

Extended variants
information (count: 2778 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:2778 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8192709	chr19:41497274-41497275	Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375553471	chr19:41497275-41497276	Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs33973337	chr19:41497286-41497287	Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs139980085	chr19:41497288-41497289	Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs386809310	chr19:41497293-41497294	Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs33926104	chr19:41497295-41497296	Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs34284776	chr19:41497296-41497297	Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs200768609	chr19:41497309-41497310	Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs35303484	chr19:41497346-41497347	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs531379847	chr19:41497349-41497350	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs151274228	chr19:41497365-41497366	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs541486480	chr19:41497367-41497368	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs553168900	chr19:41497375-41497376	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs575020216	chr19:41497395-41497396	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs542036091	chr19:41497406-41497407	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369365045	chr19:41497416-41497417	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563477465	chr19:41497437-41497438	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530785815	chr19:41497460-41497461	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545796268	chr19:41497476-41497477	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28399484	chr19:41497507-41497508	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528055545	chr19:41497524-41497525	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148835109	chr19:41497538-41497539	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs28739581	chr19:41497575-41497576	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs116548898	chr19:41497601-41497602	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548325476	chr19:41497631-41497632	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569922403	chr19:41497637-41497638	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537311056	chr19:41497641-41497642	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183537694	chr19:41497804-41497805	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189038770	chr19:41497816-41497817	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534693051	chr19:41497825-41497826	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553372149	chr19:41497840-41497841	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375269180	chr19:41497873-41497874	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574939032	chr19:41497883-41497884	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542352504	chr19:41497922-41497923	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562671969	chr19:41497963-41497964	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572235797	chr19:41497966-41497967	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145161040	chr19:41497982-41497983	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1872122	chr19:41497997-41497998	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs573134183	chr19:41498042-41498043	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75206322	chr19:41498106-41498107	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561830421	chr19:41498107-41498108	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558073721	chr19:41498216-41498217	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139031137	chr19:41498268-41498269	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561353283	chr19:41498328-41498329	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2099361	chr19:41498348-41498349	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs550278614	chr19:41498391-41498392	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563513071	chr19:41498439-41498440	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200438031	chr19:41498440-41498441	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530991804	chr19:41498441-41498442	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552771838	chr19:41498489-41498490	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41495800-41497800	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr19:41496400-41497800	Enhancers	Duodenum Mucosa	Duodenum
3	chr19:41496600-41498200	Enhancers	Stomach Mucosa	stomach
4	chr19:41496800-41499200	Enhancers	Fetal Intestine Small	intestine
5	chr19:41497000-41499400	Active TSS	Liver	Liver
6	chr19:41497200-41497400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr19:41497200-41497600	Enhancers	Colonic Mucosa	Colon
8	chr19:41497400-41497600	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr19:41497400-41497800	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr19:41497400-41500200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:41499200-41501600	Weak transcription	Fetal Intestine Small	intestine
12	chr19:41499400-41499600	Flanking Active TSS	Liver	Liver
13	chr19:41499600-41501400	Transcr. at gene 5' and 3'	Liver	Liver
14	chr19:41501400-41502200	Active TSS	Liver	Liver
15	chr19:41501600-41502400	Enhancers	Fetal Intestine Small	intestine
16	chr19:41502200-41503600	Weak transcription	Liver	Liver
17	chr19:41502400-41505600	Weak transcription	Fetal Intestine Small	intestine
18	chr19:41503600-41504200	Genic enhancers	Liver	Liver
19	chr19:41504200-41505600	Weak transcription	Liver	Liver
20	chr19:41505600-41506200	Enhancers	Stomach Mucosa	stomach
21	chr19:41505600-41508000	Genic enhancers	Liver	Liver
22	chr19:41505600-41509400	Enhancers	Fetal Intestine Small	intestine
23	chr19:41505800-41506400	Enhancers	Duodenum Mucosa	Duodenum
24	chr19:41505800-41506400	Flanking Active TSS	A549	lung
25	chr19:41505800-41506600	Enhancers	HMEC	breast
26	chr19:41505800-41507400	Enhancers	Fetal Intestine Large	intestine
27	chr19:41506000-41506200	Bivalent Enhancer	Small Intestine	intestine
28	chr19:41506000-41506400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:41506000-41506400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:41506200-41506400	Enhancers	K562	blood
31	chr19:41506200-41506600	Enhancers	Hela-S3	cervix
32	chr19:41506400-41506600	Enhancers	A549	lung
33	chr19:41506400-41507600	Weak transcription	K562	blood
34	chr19:41506400-41509000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr19:41506400-41509200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr19:41506600-41509400	Weak transcription	A549	lung
37	chr19:41506800-41507000	Enhancers	H9 Cell Line	embryonic stem cell
38	chr19:41507000-41507200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr19:41507400-41509000	Weak transcription	Fetal Intestine Large	intestine
40	chr19:41507400-41529200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr19:41507600-41507800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr19:41507600-41508000	Enhancers	K562	blood
43	chr19:41508000-41511800	Strong transcription	Liver	Liver
44	chr19:41508000-41522400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr19:41508200-41509400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr19:41509000-41509200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:41509000-41510400	Enhancers	Fetal Intestine Large	intestine
48	chr19:41509200-41509400	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr19:41509200-41509600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr19:41509200-41509800	Enhancers	HUES48 Cell Line	embryonic stem cell

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