Variant report

Variant	nsv960839
Chromosome Location	chr19:41985342-42006102
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:41985894-41986022	K562	blood:	n/a	n/a
2	ATF1	chr19:41985515-41985820	K562	blood:	n/a	n/a
3	BACH1	chr19:41985825-41985834	K562	blood:	n/a	n/a
4	BHLHE40	chr19:41985631-41985823	K562	blood:	n/a	n/a
5	BHLHE40	chr19:41986254-41986585	K562	blood:	n/a	n/a
6	CBX3	chr19:41985547-41986099	K562	blood:	n/a	n/a
7	CEBPB	chr19:41992465-41992478	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr19:41992260-41992553	A549	lung:	n/a	n/a
9	CEBPB	chr19:41992919-41993068	HepG2	liver:	n/a	n/a
10	CEBPB	chr19:41992290-41992562	HepG2	liver:	n/a	n/a
11	CEBPB	chr19:41992947-41993198	A549	lung:	n/a	chr19:41993068-41993079
12	CEBPB	chr19:41992986-41993092	IMR90	lung:	n/a	chr19:41993068-41993079
13	CEBPB	chr19:41992890-41993261	HepG2	liver:	n/a	chr19:41993068-41993079
14	CTCF	chr19:41992387-41992397	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr19:41990980-41991130	A549	lung:	n/a	n/a
16	E2F6	chr19:41986216-41986489	K562	blood:	n/a	n/a
17	E2F6	chr19:41986291-41986500	K562	blood:	n/a	n/a
18	E2F6	chr19:41985892-41986040	K562	blood:	n/a	n/a
19	EP300	chr19:41985848-41986019	K562	blood:	n/a	n/a
20	FOS	chr19:41984858-41986274	HUVEC	blood vessel:	n/a	chr19:41985971-41985982 chr19:41985559-41985568
21	FOS	chr19:41985864-41986064	MCF10A-Er-Src	breast:	n/a	chr19:41985971-41985982
22	FOS	chr19:41985798-41986124	MCF10A-Er-Src	breast:	n/a	chr19:41985971-41985982
23	FOS	chr19:41985870-41986108	MCF10A-Er-Src	breast:	n/a	chr19:41985971-41985982
24	FOS	chr19:41985833-41986024	MCF10A-Er-Src	breast:	n/a	chr19:41985971-41985982
25	FOXA1	chr19:41992948-41993177	HepG2	liver:	n/a	n/a
26	FOXA1	chr19:41992958-41993164	HepG2	liver:	n/a	n/a
27	FOXA2	chr19:41992925-41993149	HepG2	liver:	n/a	n/a
28	GATA2	chr19:41984810-41986322	HUVEC	blood vessel:	n/a	chr19:41985224-41985238 chr19:41985225-41985234 chr19:41985222-41985238
29	HCFC1	chr19:41985853-41986038	K562	blood:	n/a	n/a
30	HEY1	chr19:41985909-41986152	K562	blood:	n/a	n/a
31	JUN	chr19:41985371-41986377	K562	blood:	n/a	chr19:41985559-41985568
32	JUN	chr19:41985022-41986193	HUVEC	blood vessel:	n/a	chr19:41985559-41985568
33	JUND	chr19:41985816-41986158	K562	blood:	n/a	n/a
34	MAFK	chr19:41985846-41986110	K562	blood:	n/a	n/a
35	MAFK	chr19:41993012-41993058	HepG2	liver:	n/a	n/a
36	MAX	chr19:41985658-41985683	K562	blood:	n/a	n/a
37	MAX	chr19:41985511-41986176	K562	blood:	n/a	n/a
38	MAX	chr19:41986225-41986567	K562	blood:	n/a	n/a
39	MAX	chr19:41986236-41986626	ECC-1	luminal epithelium:	n/a	n/a
40	MYC	chr19:41985639-41986039	K562	blood:	n/a	n/a
41	MYC	chr19:41985676-41986052	HUVEC	blood vessel:	n/a	n/a
42	MYC	chr19:41985915-41986064	MCF10A-Er-Src	breast:	n/a	n/a
43	MYC	chr19:41985219-41985419	HUVEC	blood vessel:	n/a	n/a
44	NFYB	chr19:41985587-41986019	K562	blood:	n/a	n/a
45	POLR2A	chr19:41985606-41986167	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr19:41999009-41999032	MCF-7	breast:	n/a	n/a
47	POLR2A	chr19:41985428-41986569	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr19:41984248-41986563	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr19:41983961-41985402	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr19:41984279-41986381	HUVEC	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:41944280..41946189-chr19:42004239..42006678,2	K562	blood:
2	chr19:41945911..41947481-chr19:41988789..41990689,2	K562	blood:
3	chr19:41944061..41946977-chr19:42000429..42002001,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP5SL-1	chr19:42001210-42001335	NONHSAT066458
2	lnc-ATP5SL-1	chr19:42001210-42001338	NONHSAT066459
3	lnc-ATP5SL-1	chr19:42000448-42001335	ENSG00000267107.2
4	lnc-ATP5SL-1	chr19:42001210-42001335	ENSG00000267107.2
5	lnc-ATP5SL-1	chr19:42001210-42001335	NONHSAT066451
6	lnc-ATP5SL-1	chr19:42000448-42001335	ENSG00000249527

No data

Variant related genes	Relation type
ENSG00000267107	TF binding region
ENSG00000105341	chromatin interactions
CHST11	miRNA target sites

Extended variants
information (count: 846 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:846 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587748789	chr19:41985404-41985405	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs587652347	chr19:41985427-41985428	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs587717971	chr19:41985484-41985485	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs148256369	chr19:41985491-41985492	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs587701763	chr19:41985496-41985497	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs187983444	chr19:41985503-41985504	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs587631066	chr19:41985512-41985513	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs149532569	chr19:41985540-41985541	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs8111154	chr19:41985553-41985554	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs192853767	chr19:41985580-41985581	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs11672691	chr19:41985587-41985588	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
12	rs114445797	chr19:41985596-41985597	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs887391	chr19:41985624-41985625	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs370033473	chr19:41985637-41985638	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs184398955	chr19:41985639-41985640	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs144187574	chr19:41985641-41985642	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs587709032	chr19:41985644-41985645	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs587764601	chr19:41985686-41985687	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs189582932	chr19:41985689-41985690	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs587717430	chr19:41985701-41985702	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs148663927	chr19:41985738-41985739	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs587643335	chr19:41985770-41985771	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs887392	chr19:41985802-41985803	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs144365829	chr19:41985816-41985817	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs191203767	chr19:41985840-41985841	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs587716329	chr19:41985855-41985856	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs587612811	chr19:41985907-41985908	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs587646825	chr19:41985917-41985918	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs11673591	chr19:41985931-41985932	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs147827949	chr19:41985981-41985982	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs587602395	chr19:41985982-41985983	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs587671815	chr19:41985991-41985992	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs372684025	chr19:41986009-41986010	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs184878603	chr19:41986057-41986058	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs587604222	chr19:41986105-41986106	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs189293677	chr19:41986106-41986107	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs181580306	chr19:41986158-41986159	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs587684737	chr19:41986182-41986183	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs587764455	chr19:41986183-41986184	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs587637689	chr19:41986191-41986192	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs186782325	chr19:41986214-41986215	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs2079811	chr19:41986217-41986218	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs587627800	chr19:41986246-41986247	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs117788287	chr19:41986291-41986292	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs189675020	chr19:41986302-41986303	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs587614094	chr19:41986362-41986363	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs587693662	chr19:41986385-41986386	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs587770368	chr19:41986408-41986409	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs587646682	chr19:41986410-41986411	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs10401413	chr19:41986443-41986444	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41983000-41986400	Weak transcription	Spleen	Spleen
2	chr19:41983400-41986400	Flanking Active TSS	HUVEC	blood vessel
3	chr19:41984200-41985600	Active TSS	Right Atrium	heart
4	chr19:41984200-41986400	Active TSS	Ovary	ovary
5	chr19:41985000-41985400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr19:41985000-41986200	Weak transcription	Left Ventricle	heart
7	chr19:41985000-41986600	Enhancers	Adipose Nuclei	Adipose
8	chr19:41985000-41986600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr19:41985200-41985600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr19:41985200-41986800	Weak transcription	Lung	lung
11	chr19:41985400-41986000	Enhancers	Fetal Heart	heart
12	chr19:41985400-41986200	Flanking Active TSS	K562	blood
13	chr19:41985400-41986400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr19:41985600-41986600	Weak transcription	Right Atrium	heart
15	chr19:41986200-41986400	Active TSS	Left Ventricle	heart
16	chr19:41986200-41986800	Enhancers	K562	blood
17	chr19:41986400-41986800	Enhancers	Spleen	Spleen
18	chr19:41986400-41987000	Flanking Active TSS	Left Ventricle	heart
19	chr19:41986400-41987000	Enhancers	HUVEC	blood vessel
20	chr19:41986400-41987400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr19:41986600-41986800	Bivalent Enhancer	Adipose Nuclei	Adipose
22	chr19:41986600-41987000	Enhancers	Right Atrium	heart
23	chr19:41986600-41987000	Enhancers	Right Ventricle	heart
24	chr19:41986600-41987200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr19:41986800-41987000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
26	chr19:41986800-41987400	Enhancers	Lung	lung
27	chr19:41986800-41988400	Weak transcription	Spleen	Spleen
28	chr19:41987000-41987200	Bivalent Enhancer	Adipose Nuclei	Adipose
29	chr19:41987000-41987200	Enhancers	Fetal Muscle Trunk	muscle
30	chr19:41987000-41988000	Weak transcription	Left Ventricle	heart
31	chr19:41987000-41988400	Weak transcription	Right Ventricle	heart
32	chr19:41987400-41987800	Weak transcription	Lung	lung
33	chr19:41987800-41988800	Enhancers	Lung	lung
34	chr19:41988000-41988200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr19:41988000-41988600	Enhancers	Left Ventricle	heart
36	chr19:41988400-41988600	Bivalent Enhancer	Placenta	Placenta
37	chr19:41988400-41988600	Enhancers	Right Ventricle	heart
38	chr19:41988400-41988600	Enhancers	Spleen	Spleen
39	chr19:41988400-41988800	ZNF genes & repeats	Esophagus	oesophagus
40	chr19:41988600-41992200	Weak transcription	Spleen	Spleen
41	chr19:41988800-41989400	Weak transcription	Lung	lung
42	chr19:41989400-41990200	Enhancers	Lung	lung
43	chr19:41989600-41989800	Bivalent Enhancer	Left Ventricle	heart
44	chr19:41992200-41992800	ZNF genes & repeats	Spleen	Spleen
45	chr19:41992600-41993200	ZNF genes & repeats	Lung	lung
46	chr19:41992800-42001800	Weak transcription	Spleen	Spleen
47	chr19:41993200-42000200	Weak transcription	Lung	lung
48	chr19:41998800-41999000	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr19:41999000-42001600	Weak transcription	Adipose Nuclei	Adipose
50	chr19:41999600-42000600	Weak transcription	Left Ventricle	heart

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