Variant report

Variant	nsv1058924
Chromosome Location	chr19:41345146-41370933
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:302)
CpG islands
(count:307)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:302 , 50 per page) page: 1 2 3 4 5 6 7

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	ATF1	chr19:41370536-41370948	K562	blood:	n/a	n/a
3	ATF3	chr19:41370620-41370877	K562	blood:	n/a	n/a
4	CBX3	chr19:41347915-41348277	K562	blood:	n/a	n/a
5	CBX3	chr19:41370123-41371107	K562	blood:	n/a	n/a
6	CBX3	chr19:41349182-41350047	K562	blood:	n/a	n/a
7	CBX3	chr19:41347938-41348304	K562	blood:	n/a	n/a
8	CCNT2	chr19:41370582-41370786	K562	blood:	n/a	n/a
9	CEBPB	chr19:41367289-41367476	A549	lung:	n/a	n/a
10	CEBPB	chr19:41368416-41368601	K562	blood:	n/a	n/a
11	CEBPB	chr19:41370305-41370801	K562	blood:	n/a	chr19:41370433-41370441
12	CEBPB	chr19:41368761-41369068	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr19:41362024-41362201	K562	blood:	n/a	n/a
14	CEBPB	chr19:41370209-41371189	K562	blood:	n/a	chr19:41370433-41370441
15	CEBPB	chr19:41368480-41368982	A549	lung:	n/a	n/a
16	CEBPB	chr19:41370543-41370910	K562	blood:	n/a	n/a
17	CEBPD	chr19:41370661-41370862	K562	blood:	n/a	n/a
18	CEBPD	chr19:41370295-41371143	K562	blood:	n/a	n/a
19	CTCF	chr19:41354459-41354759	K562	blood:	n/a	chr19:41354699-41354709
20	CTCF	chr19:41351581-41351616	Lung_OC	lung:	n/a	n/a
21	CTCF	chr19:41354359-41354806	A549	lung:	n/a	chr19:41354699-41354709
22	CTCF	chr19:41354488-41354703	IMR90	lung:	n/a	n/a
23	CTCF	chr19:41354547-41354639	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr19:41354520-41354670	HMF	breast:	n/a	n/a
25	CTCF	chr19:41354610-41354641	GM20000	blood:	n/a	n/a
26	CTCF	chr19:41368140-41368290	NHDF-neo	bronchial:	n/a	n/a
27	CTCF	chr19:41368360-41368510	AG10803	skin:	n/a	n/a
28	CTCF	chr19:41364037-41364460	MCF-7	breast:	n/a	n/a
29	CTCF	chr19:41354520-41354670	BJ	skin:	n/a	n/a
30	CTCF	chr19:41364190-41364227	MCF-7	breast:	n/a	n/a
31	CTCF	chr19:41354500-41354650	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr19:41364080-41364230	A549	lung:	n/a	n/a
33	CTCF	chr19:41354480-41354630	AG04450	lung:	n/a	n/a
34	CTCF	chr19:41354302-41354800	A549	lung:	n/a	chr19:41354699-41354709
35	CTCF	chr19:41354521-41354653	ProgFib	skin:	n/a	n/a
36	CTCF	chr19:41368340-41368490	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr19:41367560-41367710	K562	blood:	n/a	n/a
38	CTCF	chr19:41350447-41350531	GM20000	blood:	n/a	chr19:41350484-41350497 chr19:41350488-41350497
39	CTCF	chr19:41364147-41364298	K562	blood:	n/a	n/a
40	CTCF	chr19:41354540-41354690	AG09319	gingival:	n/a	n/a
41	CTCF	chr19:41354511-41354642	K562	blood:	n/a	n/a
42	CTCF	chr19:41359824-41359874	LNCaP	prostate:	n/a	n/a
43	CTCF	chr19:41367440-41367590	K562	blood:	n/a	n/a
44	CTCF	chr19:41354549-41354665	K562	blood:	n/a	n/a
45	CTCF	chr19:41368380-41368530	HEK293	kidney:	n/a	n/a
46	CTCF	chr19:41349663-41349752	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr19:41364222-41364240	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr19:41354520-41354670	HCFaa	heart:	n/a	n/a
49	CTCF	chr19:41354520-41354670	HMEC	breast:	n/a	n/a
50	CTCF	chr19:41354480-41354686	Pancreas_OC	pancreas:	n/a	n/a

(count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41354682-41354732	PrEC	prostate:	n/a
2	chr19:41354142-41354192	K562	blood:	n/a
3	chr19:41354682-41354732	PrEC	prostate:	n/a
4	chr19:41354142-41354192	K562	blood:	n/a
5	chr19:41354142-41354192	GM06990	blood:	n/a
6	chr19:41355973-41356023	HCM	heart:	n/a
7	chr19:41354142-41354192	GM12891	blood:	n/a
8	chr19:41351924-41351974	HL-60	blood:	n/a
9	chr19:41355973-41356023	AG04449	skin:	fetal
10	chr19:41355973-41356023	NH-A	brain:	n/a
11	chr19:41354553-41354603	A549	lung:	n/a
12	chr19:41354682-41354732	HCM	heart:	n/a
13	chr19:41354553-41354603	SAEC	small airway:	n/a
14	chr19:41355973-41356023	AG04450	lung:	fetal
15	chr19:41355973-41356023	H1-hESC	embryonic stem cell:	embryo
16	chr19:41354553-41354603	HIPEpiC	eye:	n/a
17	chr19:41354553-41354603	HCPEpiC	choroid plexus:	n/a
18	chr19:41355973-41356023	MCF10A-Er-Src	breast:	n/a
19	chr19:41354553-41354603	HAEpiC	amniotic membrane:	n/a
20	chr19:41355973-41356023	GM12878	blood:	n/a
21	chr19:41354682-41354732	HRE	kidney:	n/a
22	chr19:41355973-41356023	GM06990	blood:	n/a
23	chr19:41354553-41354603	AG09319	gingival:	n/a
24	chr19:41355973-41356023	CMK	blood:	n/a
25	chr19:41354553-41354603	AG04450	lung:	fetal
26	chr19:41354553-41354603	GM06990	blood:	n/a
27	chr19:41355973-41356023	HRE	kidney:	n/a
28	chr19:41354553-41354603	CMK	blood:	n/a
29	chr19:41351924-41351974	BE2_C	brain:	n/a
30	chr19:41354682-41354732	Hepatocyte	liver:	n/a
31	chr19:41354553-41354603	HEK293	kidney:	embryo
32	chr19:41354142-41354192	Hela-S3	cervix:	n/a
33	chr19:41354682-41354732	HRPEpiC	eye:	n/a
34	chr19:41351924-41351974	AG04449	skin:	fetal
35	chr19:41355973-41356023	U87	brain:	n/a
36	chr19:41355973-41356023	LNCaP	prostate:	n/a
37	chr19:41354682-41354732	AoSMC	blood vessel:	n/a
38	chr19:41351924-41351974	HCPEpiC	choroid plexus:	n/a
39	chr19:41351924-41351974	AG10803	skin:	n/a
40	chr19:41351924-41351974	HPAEpiC	pulmonary alveolar:	n/a
41	chr19:41355973-41356023	Hela-S3	cervix:	n/a
42	chr19:41354682-41354732	HUVEC	blood vessel:	n/a
43	chr19:41354553-41354603	SK-N-SH_RA	brain:	n/a
44	chr19:41354553-41354603	NB4	blood:	n/a
45	chr19:41354142-41354192	HIPEpiC	eye:	n/a
46	chr19:41355973-41356023	GM12891	blood:	n/a
47	chr19:41354682-41354732	NB4	blood:	n/a
48	chr19:41351924-41351974	AoSMC	blood vessel:	n/a
49	chr19:41351924-41351974	ECC-1	luminal epithelium:	n/a
50	chr19:41354682-41354732	MCF10A-Er-Src	breast:	n/a

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

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

No data

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

Extended variants
information (count: 1277 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1277 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377158518	chr19:41345147-41345148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527819998	chr19:41345187-41345188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs58081257	chr19:41345196-41345197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549062598	chr19:41345203-41345204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7245507	chr19:41345224-41345225	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
6	rs140171649	chr19:41345227-41345228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531603823	chr19:41345230-41345231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550111502	chr19:41345353-41345354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571866707	chr19:41345373-41345374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532816796	chr19:41345374-41345375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7246742	chr19:41345395-41345396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566255563	chr19:41345443-41345444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371299659	chr19:41345508-41345509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28816404	chr19:41345525-41345526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554710953	chr19:41345564-41345565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112292570	chr19:41345586-41345587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537059648	chr19:41345634-41345635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs137989811	chr19:41345641-41345642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577092712	chr19:41345686-41345687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541308220	chr19:41345811-41345812	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs552937797	chr19:41345891-41345892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574295373	chr19:41345909-41345910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145769295	chr19:41345935-41345936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35755165	chr19:41345989-41345990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs7249723	chr19:41345991-41345992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs543479916	chr19:41346020-41346021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565265251	chr19:41346036-41346037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532736302	chr19:41346061-41346062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11083571	chr19:41346099-41346100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs181891841	chr19:41346102-41346103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530327584	chr19:41346106-41346107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144135542	chr19:41346120-41346121	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs111895050	chr19:41346121-41346122	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs147294032	chr19:41346150-41346151	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs560504323	chr19:41346201-41346202	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs539873728	chr19:41346340-41346341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537129978	chr19:41346432-41346433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11879110	chr19:41346491-41346492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572437813	chr19:41346492-41346493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11881708	chr19:41346497-41346498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558304380	chr19:41346503-41346504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570422229	chr19:41346504-41346505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11881646	chr19:41346509-41346510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186916929	chr19:41346568-41346569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11881716	chr19:41346569-41346570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574355880	chr19:41346581-41346582	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs541643701	chr19:41346587-41346588	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs556715097	chr19:41346676-41346677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576162199	chr19:41346716-41346717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191315363	chr19:41346726-41346727	Weak transcription	n/a	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:305 , 50 per page) page: 1 2 3 4 5 6 7

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	chr19:41339600-41349400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:41341800-41349400	Weak transcription	K562	blood
5	chr19:41347600-41347800	Enhancers	Lung	lung
6	chr19:41347800-41349000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:41347800-41349800	Weak transcription	Lung	lung
8	chr19:41348800-41349000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr19:41348800-41349000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr19:41349000-41349200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr19:41349000-41349200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr19:41349000-41349200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr19:41349000-41349200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr19:41349000-41349200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr19:41349000-41349200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr19:41349000-41349200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:41349000-41349200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:41349000-41349200	Enhancers	Duodenum Mucosa	Duodenum
19	chr19:41349000-41349400	Enhancers	Primary B cells from peripheral blood	blood
20	chr19:41349200-41349400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr19:41349200-41349400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr19:41349200-41349400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
23	chr19:41349200-41349400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr19:41349200-41349400	Enhancers	Primary T cells fromperipheralblood	blood
25	chr19:41349200-41349400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr19:41349200-41349400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr19:41349200-41349400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr19:41349200-41349400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:41349200-41349400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:41349200-41349400	Enhancers	Fetal Intestine Large	intestine
31	chr19:41349200-41349400	Enhancers	Fetal Thymus	thymus
32	chr19:41349200-41349400	Enhancers	GM12878-XiMat	blood
33	chr19:41349200-41349400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr19:41349200-41349600	Active TSS	Primary hematopoietic stem cells	blood
35	chr19:41349200-41349600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr19:41349200-41349600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr19:41349200-41349600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:41349200-41349600	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr19:41349200-41349600	Enhancers	Esophagus	oesophagus
40	chr19:41349200-41349600	Enhancers	Placenta	Placenta
41	chr19:41349200-41349600	Enhancers	Small Intestine	intestine
42	chr19:41349200-41349800	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr19:41349200-41349800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr19:41349200-41349800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr19:41349200-41349800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:41349200-41350000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr19:41349200-41350000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr19:41349200-41350200	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr19:41349200-41350200	Active TSS	Primary B cells from cord blood	blood
50	chr19:41349200-41350200	Enhancers	Primary T cells from cord blood	blood

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