Variant report

Variant	nsv1061566
Chromosome Location	chr19:35855341-35866942
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:159)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:159 , 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	chr19:35865850-35866169	K562	blood:	n/a	n/a
2	ATF1	chr19:35865921-35866194	K562	blood:	n/a	n/a
3	ATF3	chr19:35865963-35866126	K562	blood:	n/a	n/a
4	ATF3	chr19:35865822-35866257	K562	blood:	n/a	n/a
5	BHLHE40	chr19:35865883-35866242	K562	blood:	n/a	n/a
6	BHLHE40	chr19:35865989-35866016	GM12878	blood:	n/a	n/a
7	CBX3	chr19:35865901-35866279	K562	blood:	n/a	n/a
8	CEBPB	chr19:35864499-35864730	K562	blood:	n/a	n/a
9	CEBPB	chr19:35866839-35866916	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr19:35861320-35861547	K562	blood:	n/a	chr19:35861400-35861411
11	CEBPB	chr19:35861266-35861524	A549	lung:	n/a	chr19:35861400-35861411
12	CEBPB	chr19:35864457-35864718	HepG2	liver:	n/a	n/a
13	CEBPB	chr19:35861291-35861545	IMR90	lung:	n/a	chr19:35861400-35861411
14	CEBPB	chr19:35861294-35861521	HepG2	liver:	n/a	chr19:35861400-35861411
15	CTCF	chr19:35862524-35862566	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr19:35862440-35862488	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr19:35862244-35862528	K562	blood:	n/a	n/a
18	CTCF	chr19:35862361-35862470	MCF-7	breast:	n/a	n/a
19	CTCF	chr19:35862431-35862518	GM13976	blood:	n/a	n/a
20	CTCF	chr19:35862329-35862490	GM19238	blood:	n/a	n/a
21	CTCF	chr19:35866861-35867078	GM12878	blood:	n/a	n/a
22	CTCF	chr19:35862259-35862545	GM12891	blood:	n/a	n/a
23	CTCF	chr19:35862325-35862487	K562	blood:	n/a	n/a
24	CTCF	chr19:35862417-35862550	GM13977	blood:	n/a	n/a
25	CTCF	chr19:35866940-35867090	HEK293	kidney:	n/a	n/a
26	CTCF	chr19:35862332-35862460	GM12878	blood:	n/a	n/a
27	CTCF	chr19:35862387-35862486	MCF-7	breast:	n/a	n/a
28	CTCF	chr19:35862297-35862532	MCF-7	breast:	n/a	n/a
29	CTCF	chr19:35862354-35862464	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr19:35862328-35862517	Fibrobl	skin:	n/a	n/a
31	CTCF	chr19:35862308-35862525	GM12892	blood:	n/a	n/a
32	CTCF	chr19:35862518-35862521	Fibrobl	skin:	n/a	n/a
33	CTCF	chr19:35862354-35862478	MCF-7	breast:	n/a	n/a
34	CTCF	chr19:35862351-35862447	HepG2	liver:	n/a	n/a
35	CTCF	chr19:35862400-35862454	GM20000	blood:	n/a	n/a
36	CTCF	chr19:35862115-35862183	GM13976	blood:	n/a	n/a
37	CTCF	chr19:35862626-35862782	GM12891	blood:	n/a	n/a
38	CTCF	chr19:35865920-35866070	HRE	kidney:	n/a	n/a
39	CTCF	chr19:35862340-35862508	A549	lung:	n/a	n/a
40	CTCF	chr19:35862323-35862373	GM20000	blood:	n/a	n/a
41	CTCF	chr19:35862313-35862536	GM19240	blood:	n/a	n/a
42	CTCF	chr19:35862239-35862573	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr19:35862336-35862493	MCF-7	breast:	n/a	n/a
44	CTCF	chr19:35862296-35862574	GM19239	blood:	n/a	n/a
45	CTCF	chr19:35862487-35862490	MCF-7	breast:	n/a	n/a
46	CTCF	chr19:35862198-35862537	K562	blood:	n/a	n/a
47	CTCF	chr19:35862319-35862524	Gliobla	brain:	n/a	n/a
48	CTCF	chr19:35862357-35862469	NHEK	skin:	n/a	n/a
49	CTCF	chr19:35862100-35862172	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr19:35862640-35862675	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:35861862-35861912	SK-N-MC	brain:	n/a
2	chr19:35861862-35861912	MCF-7	breast:	n/a
3	chr19:35861862-35861912	SAEC	small airway:	n/a
4	chr19:35861862-35861912	GM12878	blood:	n/a
5	chr19:35861862-35861912	H1-hESC	embryonic stem cell:	embryo
6	chr19:35861862-35861912	A549	lung:	n/a
7	chr19:35861862-35861912	HEK293	kidney:	embryo
8	chr19:35861862-35861912	Hela-S3	cervix:	n/a
9	chr19:35861862-35861912	BJ	skin:	n/a
10	chr19:35861862-35861912	SK-N-SH	brain:	n/a
11	chr19:35861862-35861912	AG09309	skin:	n/a
12	chr19:35861862-35861912	SKMC	muscle:	n/a
13	chr19:35861862-35861912	HCF	heart:	n/a
14	chr19:35861862-35861912	U87	brain:	n/a
15	chr19:35861862-35861912	NT2-D1	testis:	n/a
16	chr19:35861862-35861912	CMK	blood:	n/a
17	chr19:35861862-35861912	AG04450	lung:	fetal
18	chr19:35861862-35861912	HRCEpiC	kidney:	n/a
19	chr19:35861862-35861912	PANC-1	pancreas:	n/a
20	chr19:35861862-35861912	Jurkat	blood:	n/a
21	chr19:35861862-35861912	GM19239	blood:	n/a
22	chr19:35861862-35861912	RPTEC	kidney:	n/a
23	chr19:35861862-35861912	PFSK-1	brain:	n/a
24	chr19:35861862-35861912	HRE	kidney:	n/a
25	chr19:35861862-35861912	HEEpiC	esophagus:	n/a
26	chr19:35861862-35861912	PrEC	prostate:	n/a
27	chr19:35861862-35861912	MCF10A-Er-Src	breast:	n/a
28	chr19:35861862-35861912	K562	blood:	n/a
29	chr19:35861862-35861912	HepG2	liver:	n/a
30	chr19:35861862-35861912	HAEpiC	amniotic membrane:	n/a
31	chr19:35861862-35861912	HPAEpiC	pulmonary alveolar:	n/a
32	chr19:35861862-35861912	HCM	heart:	n/a
33	chr19:35861862-35861912	AG09319	gingival:	n/a
34	chr19:35861862-35861912	AoSMC	blood vessel:	n/a
35	chr19:35861862-35861912	ovcar-3	ovarian:	n/a
36	chr19:35861862-35861912	Caco-2	colon:	n/a
37	chr19:35861862-35861912	IMR90	lung:	fetal
38	chr19:35861862-35861912	NB4	blood:	n/a
39	chr19:35861862-35861912	HCT-116	colon:	n/a
40	chr19:35861862-35861912	HCPEpiC	choroid plexus:	n/a
41	chr19:35861862-35861912	NHBE	bronchial:	n/a
42	chr19:35861862-35861912	GM12892	blood:	n/a
43	chr19:35861862-35861912	ProgFib	skin:	n/a
44	chr19:35861862-35861912	BE2_C	brain:	n/a
45	chr19:35861862-35861912	Hepatocyte	liver:	n/a
46	chr19:35861862-35861912	GM06990	blood:	n/a
47	chr19:35861862-35861912	HNPCEpiC	eye:	n/a
48	chr19:35861862-35861912	SK-N-SH_RA	brain:	n/a
49	chr19:35861862-35861912	NH-A	brain:	n/a
50	chr19:35861862-35861912	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr19:35866654..35868491-chr19:35868954..35871337,2	K562	blood:
2	chr19:35865310..35868154-chr19:35869837..35872073,2	K562	blood:
3	chr19:35864467..35867206-chr19:35939200..35941045,2	MCF-7	breast:
4	chr19:35847716..35849933-chr19:35855045..35856568,2	MCF-7	breast:

No data

Variant related genes	Relation type
GPR42	TF binding region
GPR42	CpG island
ENSG00000126262	chromatin interactions
ENSG00000185897	chromatin interactions

Extended variants
information (count: 301 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528742064	chr19:35855341-35855342	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs551584357	chr19:35855436-35855437	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs115672730	chr19:35855453-35855454	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs60668646	chr19:35855476-35855477	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549231453	chr19:35855488-35855489	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs35366440	chr19:35855492-35855493	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145641296	chr19:35855493-35855494	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs398079844	chr19:35855502-35855503	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567746182	chr19:35855503-35855504	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs74597582	chr19:35855581-35855582	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536290466	chr19:35855587-35855588	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546958949	chr19:35855594-35855595	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs79651266	chr19:35855625-35855626	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs7255538	chr19:35855635-35855636	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs538905904	chr19:35855658-35855659	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs558800295	chr19:35855680-35855681	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs201638104	chr19:35855692-35855693	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs77991987	chr19:35855693-35855694	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs398101192	chr19:35855695-35855696	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs59899190	chr19:35855698-35855699	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs537941645	chr19:35855788-35855789	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs138418727	chr19:35855791-35855792	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs35918989	chr19:35855793-35855794	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs398059695	chr19:35855796-35855797	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs4806134	chr19:35855823-35855824	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs372076812	chr19:35855827-35855828	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs574462421	chr19:35855852-35855853	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs4806135	chr19:35855853-35855854	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs560069842	chr19:35855857-35855858	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs573218777	chr19:35855884-35855885	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs568960511	chr19:35855885-35855886	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs545257105	chr19:35855886-35855887	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565142690	chr19:35855887-35855888	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs536415883	chr19:35855908-35855909	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs114109112	chr19:35855945-35855946	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs551144845	chr19:35855986-35855987	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs148027602	chr19:35855994-35855995	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs189369145	chr19:35855998-35855999	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs181417268	chr19:35856078-35856079	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs75612249	chr19:35856086-35856087	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs141751353	chr19:35856104-35856105	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs552453181	chr19:35856149-35856150	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs569168451	chr19:35856214-35856215	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs538075845	chr19:35856225-35856226	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs4805122	chr19:35856272-35856273	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs574473864	chr19:35856281-35856282	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs374759333	chr19:35856304-35856305	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs533853283	chr19:35856306-35856307	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs538003297	chr19:35856307-35856308	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs115813317	chr19:35856332-35856333	Inactive region	Chromatin interactive region	1 gene(s)	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
Pleomorphic liposarcoma	18784837	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	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	CNVD
Disorders of sex development	21048976	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
Gastric cancer	21811585	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35856400-35856600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
2	chr19:35864200-35864400	Enhancers	GM12878-XiMat	blood
3	chr19:35864200-35865800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr19:35864400-35864600	Bivalent Enhancer	K562	blood
5	chr19:35864400-35865400	Weak transcription	GM12878-XiMat	blood
6	chr19:35865000-35867200	Enhancers	K562	blood
7	chr19:35865200-35866000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
8	chr19:35865200-35866600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr19:35865400-35867200	Enhancers	Stomach Mucosa	stomach
10	chr19:35865400-35869000	Enhancers	GM12878-XiMat	blood
11	chr19:35865600-35866200	Enhancers	Ovary	ovary
12	chr19:35865600-35866400	Enhancers	HepG2	liver
13	chr19:35865800-35866000	Bivalent Enhancer	A549	lung
14	chr19:35865800-35870200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr19:35866000-35867000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr19:35866200-35866800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:35866400-35866800	Weak transcription	HepG2	liver
18	chr19:35866400-35868400	Enhancers	Primary B cells from peripheral blood	blood
19	chr19:35866800-35867000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:35866800-35867000	Enhancers	HepG2	liver
21	chr19:35866800-35867200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr19:35866800-35867200	Enhancers	Lung	lung
23	chr19:35866800-35867800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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