Variant report

Variant	nsv911739
Chromosome Location	chr19:41341589-41383828
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:393)
CpG islands
(count:366)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:393 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:41370633-41370945	K562	blood:	n/a	n/a
2	ARID3A	chr19:41378197-41378436	K562	blood:	n/a	n/a
3	ATF1	chr19:41378237-41378485	K562	blood:	n/a	n/a
4	ATF1	chr19:41370536-41370948	K562	blood:	n/a	n/a
5	ATF3	chr19:41370620-41370877	K562	blood:	n/a	n/a
6	ATF3	chr19:41378141-41378430	K562	blood:	n/a	n/a
7	CBX3	chr19:41379769-41380227	K562	blood:	n/a	n/a
8	CBX3	chr19:41379821-41380148	K562	blood:	n/a	n/a
9	CBX3	chr19:41347938-41348304	K562	blood:	n/a	n/a
10	CBX3	chr19:41381255-41381833	K562	blood:	n/a	n/a
11	CBX3	chr19:41347915-41348277	K562	blood:	n/a	n/a
12	CBX3	chr19:41349182-41350047	K562	blood:	n/a	n/a
13	CBX3	chr19:41370123-41371107	K562	blood:	n/a	n/a
14	CCNT2	chr19:41370582-41370786	K562	blood:	n/a	n/a
15	CEBPB	chr19:41370543-41370910	K562	blood:	n/a	n/a
16	CEBPB	chr19:41373920-41374208	K562	blood:	n/a	n/a
17	CEBPB	chr19:41342862-41343338	A549	lung:	n/a	chr19:41343121-41343132
18	CEBPB	chr19:41370209-41371189	K562	blood:	n/a	chr19:41370433-41370441
19	CEBPB	chr19:41343006-41343268	IMR90	lung:	n/a	chr19:41343121-41343132
20	CEBPB	chr19:41368480-41368982	A549	lung:	n/a	n/a
21	CEBPB	chr19:41370305-41370801	K562	blood:	n/a	chr19:41370433-41370441
22	CEBPB	chr19:41343053-41343247	H1-hESC	embryonic stem cell:	n/a	chr19:41343121-41343132
23	CEBPB	chr19:41343058-41343265	A549	lung:	n/a	chr19:41343121-41343132
24	CEBPB	chr19:41343011-41343287	HepG2	liver:	n/a	chr19:41343121-41343132
25	CEBPB	chr19:41362024-41362201	K562	blood:	n/a	n/a
26	CEBPB	chr19:41367289-41367476	A549	lung:	n/a	n/a
27	CEBPB	chr19:41374056-41374100	A549	lung:	n/a	n/a
28	CEBPB	chr19:41342957-41343295	K562	blood:	n/a	chr19:41343121-41343132
29	CEBPB	chr19:41368416-41368601	K562	blood:	n/a	n/a
30	CEBPB	chr19:41373834-41374300	A549	lung:	n/a	n/a
31	CEBPB	chr19:41378139-41378466	K562	blood:	n/a	n/a
32	CEBPB	chr19:41368761-41369068	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr19:41378202-41378474	K562	blood:	n/a	n/a
34	CEBPD	chr19:41370661-41370862	K562	blood:	n/a	n/a
35	CEBPD	chr19:41370295-41371143	K562	blood:	n/a	n/a
36	CTCF	chr19:41354520-41354670	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr19:41364100-41364250	HEK293	kidney:	n/a	n/a
38	CTCF	chr19:41364120-41364270	K562	blood:	n/a	n/a
39	CTCF	chr19:41368360-41368510	K562	blood:	n/a	n/a
40	CTCF	chr19:41354442-41354722	A549	lung:	n/a	chr19:41354699-41354709
41	CTCF	chr19:41364113-41364398	K562	blood:	n/a	n/a
42	CTCF	chr19:41354521-41354653	ProgFib	skin:	n/a	n/a
43	CTCF	chr19:41354580-41354730	BE2_C	brain:	n/a	chr19:41354699-41354709
44	CTCF	chr19:41354511-41354675	NHEK	skin:	n/a	n/a
45	CTCF	chr19:41354459-41354759	K562	blood:	n/a	chr19:41354699-41354709
46	CTCF	chr19:41354547-41354639	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr19:41354440-41354590	HEK293	kidney:	n/a	n/a
48	CTCF	chr19:41368340-41368490	AoAF	blood vessel:	n/a	n/a
49	CTCF	chr19:41354520-41354670	AG09309	skin:	n/a	n/a
50	CTCF	chr19:41367560-41367710	HEK293	kidney:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41354682-41354732	AG09309	skin:	n/a
2	chr19:41354553-41354603	GM19239	blood:	n/a
3	chr19:41354142-41354192	SK-N-SH_RA	brain:	n/a
4	chr19:41354682-41354732	U87	brain:	n/a
5	chr19:41354682-41354732	SK-N-SH_RA	brain:	n/a
6	chr19:41354682-41354732	IMR90	lung:	fetal
7	chr19:41383654-41383704	HCT-116	colon:	n/a
8	chr19:41383654-41383704	HL-60	blood:	n/a
9	chr19:41354682-41354732	SK-N-MC	brain:	n/a
10	chr19:41354553-41354603	GM06990	blood:	n/a
11	chr19:41355973-41356023	HepG2	liver:	n/a
12	chr19:41354553-41354603	GM12878	blood:	n/a
13	chr19:41355973-41356023	HIPEpiC	eye:	n/a
14	chr19:41383654-41383704	RPTEC	kidney:	n/a
15	chr19:41355973-41356023	IMR90	lung:	fetal
16	chr19:41354142-41354192	HL-60	blood:	n/a
17	chr19:41355973-41356023	SKMC	muscle:	n/a
18	chr19:41354553-41354603	HepG2	liver:	n/a
19	chr19:41355973-41356023	SAEC	small airway:	n/a
20	chr19:41383654-41383704	PANC-1	pancreas:	n/a
21	chr19:41383654-41383704	NT2-D1	testis:	n/a
22	chr19:41355973-41356023	GM06990	blood:	n/a
23	chr19:41354142-41354192	U87	brain:	n/a
24	chr19:41383654-41383704	AG04450	lung:	fetal
25	chr19:41354142-41354192	AG04449	skin:	fetal
26	chr19:41355973-41356023	H1-hESC	embryonic stem cell:	embryo
27	chr19:41355973-41356023	Jurkat	blood:	n/a
28	chr19:41383654-41383704	K562	blood:	n/a
29	chr19:41354553-41354603	ovcar-3	ovarian:	n/a
30	chr19:41354553-41354603	HNPCEpiC	eye:	n/a
31	chr19:41354682-41354732	T-47D	breast:	n/a
32	chr19:41354682-41354732	SK-N-SH	brain:	n/a
33	chr19:41354142-41354192	IMR90	lung:	fetal
34	chr19:41355973-41356023	MCF-7	breast:	n/a
35	chr19:41355973-41356023	SK-N-SH_RA	brain:	n/a
36	chr19:41351924-41351974	IMR90	lung:	fetal
37	chr19:41383654-41383704	HUVEC	blood vessel:	n/a
38	chr19:41355973-41356023	RPTEC	kidney:	n/a
39	chr19:41355973-41356023	HL-60	blood:	n/a
40	chr19:41354142-41354192	HCPEpiC	choroid plexus:	n/a
41	chr19:41355973-41356023	ovcar-3	ovarian:	n/a
42	chr19:41383654-41383704	A549	lung:	n/a
43	chr19:41355973-41356023	LNCaP	prostate:	n/a
44	chr19:41355973-41356023	Hepatocyte	liver:	n/a
45	chr19:41355973-41356023	AoSMC	blood vessel:	n/a
46	chr19:41354553-41354603	Caco-2	colon:	n/a
47	chr19:41354553-41354603	HCPEpiC	choroid plexus:	n/a
48	chr19:41351924-41351974	GM19239	blood:	n/a
49	chr19:41383654-41383704	MCF-7	breast:	n/a
50	chr19:41383654-41383704	GM06990	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:4474827..4477394-chr19:41351022..41353007,2	MCF-7	breast:
2	chr19:41369230..41371017-chr19:41372027..41374078,2	K562	blood:
3	chr19:41195484..41197379-chr19:41368669..41371255,2	K562	blood:
4	chr19:41369230..41371017-chr19:41372027..41374078,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP2A6-1	chr19:41342991-41343115	ENSG00000269843.1

No data

Variant related genes	Relation type
ENSG00000269843	TF binding region
CYP2A6	TF binding region
CYP2A7	TF binding region
ENSG00000269843	CpG island
CYP2A6	CpG island
CYP2A7	CpG island
ENSG00000262246	chromatin interactions
ENSG00000103423	chromatin interactions
ENSG00000105245	chromatin interactions

Extended variants
information (count: 2145 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2145 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7251418	chr19:41341589-41341590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115337625	chr19:41341599-41341600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569235315	chr19:41341623-41341624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530166755	chr19:41341653-41341654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367739647	chr19:41341676-41341677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370309730	chr19:41341680-41341681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568500162	chr19:41341692-41341693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7251570	chr19:41341750-41341751	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs551650521	chr19:41341764-41341765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566604250	chr19:41341816-41341817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150719694	chr19:41341818-41341819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2545779	chr19:41341850-41341851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555241839	chr19:41341874-41341875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117593859	chr19:41341934-41341935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369191068	chr19:41341997-41341998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535937068	chr19:41342024-41342025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186051747	chr19:41342042-41342043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2644895	chr19:41342078-41342079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571490955	chr19:41342080-41342081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149441971	chr19:41342088-41342089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545829441	chr19:41342202-41342203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367835591	chr19:41342233-41342234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2545780	chr19:41342234-41342235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573426622	chr19:41342289-41342290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540845414	chr19:41342381-41342382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190527434	chr19:41342398-41342399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371595520	chr19:41342401-41342402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528992136	chr19:41342417-41342418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550252127	chr19:41342419-41342420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs3865454	chr19:41342459-41342460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532769999	chr19:41342505-41342506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144778339	chr19:41342510-41342511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532082565	chr19:41342524-41342525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552639150	chr19:41342527-41342528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140114469	chr19:41342588-41342589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567459149	chr19:41342695-41342696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181866972	chr19:41342727-41342728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535997249	chr19:41342744-41342745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186184252	chr19:41342761-41342762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377631521	chr19:41342765-41342766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571586347	chr19:41342780-41342781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371878456	chr19:41342804-41342805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569331445	chr19:41342806-41342807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145580088	chr19:41342842-41342843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575161112	chr19:41342870-41342871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147685108	chr19:41342950-41342951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140828840	chr19:41343009-41343010	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs142250066	chr19:41343071-41343072	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs373455089	chr19:41343081-41343082	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs148689760	chr19:41343107-41343108	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41330200-41349400	Weak transcription	Right Ventricle	heart
2	chr19:41333600-41349400	Weak transcription	Left Ventricle	heart
3	chr19:41338600-41344000	Weak transcription	A549	lung
4	chr19:41339600-41349400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:41340200-41341800	Enhancers	K562	blood
6	chr19:41341800-41349400	Weak transcription	K562	blood
7	chr19:41344000-41344400	Enhancers	A549	lung
8	chr19:41347600-41347800	Enhancers	Lung	lung
9	chr19:41347800-41349000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:41347800-41349800	Weak transcription	Lung	lung
11	chr19:41348800-41349000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr19:41348800-41349000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr19:41349000-41349200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr19:41349000-41349200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr19:41349000-41349200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr19:41349000-41349200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr19:41349000-41349200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr19:41349000-41349200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr19:41349000-41349200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:41349000-41349200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr19:41349000-41349200	Enhancers	Duodenum Mucosa	Duodenum
22	chr19:41349000-41349400	Enhancers	Primary B cells from peripheral blood	blood
23	chr19:41349200-41349400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr19:41349200-41349400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr19:41349200-41349400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
26	chr19:41349200-41349400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr19:41349200-41349400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr19:41349200-41349400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr19:41349200-41349400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr19:41349200-41349400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr19:41349200-41349400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr19:41349200-41349400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:41349200-41349400	Enhancers	Fetal Intestine Large	intestine
34	chr19:41349200-41349400	Enhancers	Fetal Thymus	thymus
35	chr19:41349200-41349400	Enhancers	GM12878-XiMat	blood
36	chr19:41349200-41349400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr19:41349200-41349600	Active TSS	Primary hematopoietic stem cells	blood
38	chr19:41349200-41349600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr19:41349200-41349600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr19:41349200-41349600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:41349200-41349600	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr19:41349200-41349600	Enhancers	Esophagus	oesophagus
43	chr19:41349200-41349600	Enhancers	Placenta	Placenta
44	chr19:41349200-41349600	Enhancers	Small Intestine	intestine
45	chr19:41349200-41349800	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr19:41349200-41349800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr19:41349200-41349800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr19:41349200-41349800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:41349200-41350000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr19:41349200-41350000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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