Variant report

Variant	nsv828540
Chromosome Location	chr19:35851614-35864301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr19:35851866-35852079	K562	blood:	n/a	n/a
2	CEBPB	chr19:35861320-35861547	K562	blood:	n/a	chr19:35861400-35861411
3	CEBPB	chr19:35861294-35861521	HepG2	liver:	n/a	chr19:35861400-35861411
4	CEBPB	chr19:35861291-35861545	IMR90	lung:	n/a	chr19:35861400-35861411
5	CEBPB	chr19:35861266-35861524	A549	lung:	n/a	chr19:35861400-35861411
6	CTCF	chr19:35862417-35862550	GM13977	blood:	n/a	n/a
7	CTCF	chr19:35862431-35862518	GM13976	blood:	n/a	n/a
8	CTCF	chr19:35862626-35862782	GM12891	blood:	n/a	n/a
9	CTCF	chr19:35862259-35862545	GM12891	blood:	n/a	n/a
10	CTCF	chr19:35862640-35862675	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr19:35862115-35862183	GM13976	blood:	n/a	n/a
12	CTCF	chr19:35862387-35862486	MCF-7	breast:	n/a	n/a
13	CTCF	chr19:35862319-35862524	Gliobla	brain:	n/a	n/a
14	CTCF	chr19:35862487-35862490	MCF-7	breast:	n/a	n/a
15	CTCF	chr19:35862328-35862517	Fibrobl	skin:	n/a	n/a
16	CTCF	chr19:35862198-35862537	K562	blood:	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	chr19:35862440-35862488	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr19:35862100-35862172	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr19:35862323-35862373	GM20000	blood:	n/a	n/a
22	CTCF	chr19:35862524-35862566	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr19:35862340-35862508	A549	lung:	n/a	n/a
24	CTCF	chr19:35862518-35862521	Fibrobl	skin:	n/a	n/a
25	CTCF	chr19:35862296-35862574	GM19239	blood:	n/a	n/a
26	CTCF	chr19:35862357-35862469	NHEK	skin:	n/a	n/a
27	CTCF	chr19:35862297-35862532	MCF-7	breast:	n/a	n/a
28	CTCF	chr19:35862332-35862460	GM12878	blood:	n/a	n/a
29	CTCF	chr19:35862354-35862478	MCF-7	breast:	n/a	n/a
30	CTCF	chr19:35862351-35862447	HepG2	liver:	n/a	n/a
31	CTCF	chr19:35862329-35862490	GM19238	blood:	n/a	n/a
32	CTCF	chr19:35862336-35862493	MCF-7	breast:	n/a	n/a
33	CTCF	chr19:35862400-35862454	GM20000	blood:	n/a	n/a
34	CTCF	chr19:35862308-35862525	GM12892	blood:	n/a	n/a
35	CTCF	chr19:35862354-35862464	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr19:35862239-35862573	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr19:35862313-35862536	GM19240	blood:	n/a	n/a
38	CTCF	chr19:35862325-35862487	K562	blood:	n/a	n/a
39	EBF1	chr19:35862613-35862922	GM12878	blood:	n/a	n/a
40	EBF1	chr19:35852044-35852291	GM12878	blood:	n/a	chr19:35852258-35852267 chr19:35852075-35852086
41	IRF1	chr19:35860617-35860724	K562	blood:	n/a	n/a
42	IRF1	chr19:35860626-35860666	K562	blood:	n/a	n/a
43	MAFF	chr19:35851842-35852200	HepG2	liver:	n/a	chr19:35851964-35851982
44	MAFF	chr19:35851839-35852229	K562	blood:	n/a	chr19:35851964-35851982
45	MAFK	chr19:35851852-35852274	K562	blood:	n/a	chr19:35851970-35851981 chr19:35851970-35851981 chr19:35852152-35852166 chr19:35852154-35852165 chr19:35851969-35851980 chr19:35851965-35851981 chr19:35852153-35852164 chr19:35852154-35852165
46	MAFK	chr19:35851841-35852323	HepG2	liver:	n/a	chr19:35851970-35851981 chr19:35851970-35851981 chr19:35852152-35852166 chr19:35852154-35852165 chr19:35851969-35851980 chr19:35851965-35851981 chr19:35852153-35852164 chr19:35852154-35852165
47	MAFK	chr19:35851953-35852164	Hela-S3	cervix:	n/a	chr19:35851970-35851981 chr19:35851970-35851981 chr19:35851969-35851980 chr19:35851965-35851981 chr19:35852153-35852164
48	MAFK	chr19:35851820-35852313	HepG2	liver:	n/a	chr19:35851970-35851981 chr19:35851970-35851981 chr19:35852152-35852166 chr19:35852154-35852165 chr19:35851969-35851980 chr19:35851965-35851981 chr19:35852153-35852164 chr19:35852154-35852165
49	MAFK	chr19:35851894-35852324	IMR90	lung:	n/a	chr19:35851970-35851981 chr19:35851970-35851981 chr19:35852152-35852166 chr19:35852154-35852165 chr19:35851969-35851980 chr19:35851965-35851981 chr19:35852153-35852164 chr19:35852154-35852165
50	MYC	chr19:35862478-35862505	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:35861862-35861912	PFSK-1	brain:	n/a
2	chr19:35861862-35861912	AG04450	lung:	fetal
3	chr19:35861862-35861912	HRCEpiC	kidney:	n/a
4	chr19:35861862-35861912	GM12878	blood:	n/a
5	chr19:35861862-35861912	U87	brain:	n/a
6	chr19:35861862-35861912	AG10803	skin:	n/a
7	chr19:35861862-35861912	K562	blood:	n/a
8	chr19:35861862-35861912	Hela-S3	cervix:	n/a
9	chr19:35861862-35861912	GM12892	blood:	n/a
10	chr19:35861862-35861912	HCM	heart:	n/a
11	chr19:35861862-35861912	AoSMC	blood vessel:	n/a
12	chr19:35861862-35861912	NB4	blood:	n/a
13	chr19:35861862-35861912	ProgFib	skin:	n/a
14	chr19:35861862-35861912	AG09309	skin:	n/a
15	chr19:35861862-35861912	SAEC	small airway:	n/a
16	chr19:35861862-35861912	SK-N-SH	brain:	n/a
17	chr19:35861862-35861912	NHDF-neo	bronchial:	n/a
18	chr19:35861862-35861912	HL-60	blood:	n/a
19	chr19:35861862-35861912	NT2-D1	testis:	n/a
20	chr19:35861862-35861912	HepG2	liver:	n/a
21	chr19:35861862-35861912	Jurkat	blood:	n/a
22	chr19:35861862-35861912	ovcar-3	ovarian:	n/a
23	chr19:35861862-35861912	HEK293	kidney:	embryo
24	chr19:35861862-35861912	MCF10A-Er-Src	breast:	n/a
25	chr19:35861862-35861912	ECC-1	luminal epithelium:	n/a
26	chr19:35861862-35861912	AG09319	gingival:	n/a
27	chr19:35861862-35861912	HPAEpiC	pulmonary alveolar:	n/a
28	chr19:35861862-35861912	MCF-7	breast:	n/a
29	chr19:35861862-35861912	GM19239	blood:	n/a
30	chr19:35861862-35861912	Caco-2	colon:	n/a
31	chr19:35861862-35861912	BJ	skin:	n/a
32	chr19:35861862-35861912	HRE	kidney:	n/a
33	chr19:35861862-35861912	IMR90	lung:	fetal
34	chr19:35861862-35861912	BE2_C	brain:	n/a
35	chr19:35861862-35861912	HEEpiC	esophagus:	n/a
36	chr19:35861862-35861912	T-47D	breast:	n/a
37	chr19:35861862-35861912	HAEpiC	amniotic membrane:	n/a
38	chr19:35861862-35861912	GM12891	blood:	n/a
39	chr19:35861862-35861912	NH-A	brain:	n/a
40	chr19:35861862-35861912	HCT-116	colon:	n/a
41	chr19:35861862-35861912	PANC-1	pancreas:	n/a
42	chr19:35861862-35861912	PrEC	prostate:	n/a
43	chr19:35861862-35861912	HCF	heart:	n/a
44	chr19:35861862-35861912	NHBE	bronchial:	n/a
45	chr19:35861862-35861912	GM06990	blood:	n/a
46	chr19:35861862-35861912	HCPEpiC	choroid plexus:	n/a
47	chr19:35861862-35861912	H1-hESC	embryonic stem cell:	embryo
48	chr19:35861862-35861912	HNPCEpiC	eye:	n/a
49	chr19:35861862-35861912	LNCaP	prostate:	n/a
50	chr19:35861862-35861912	A549	lung:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:35847716..35849933-chr19:35855045..35856568,2	MCF-7	breast:

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

Extended variants
information (count: 228 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:228 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10407548	chr19:35851615-35851616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75269464	chr19:35851619-35851620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs403862	chr19:35851675-35851676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538114454	chr19:35851682-35851683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs446226	chr19:35851684-35851685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554823291	chr19:35851777-35851778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184214974	chr19:35851781-35851782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563945445	chr19:35851814-35851815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188838880	chr19:35851859-35851860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111383401	chr19:35851873-35851874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553636090	chr19:35851885-35851886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs756901	chr19:35851894-35851895	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs545516637	chr19:35851948-35851949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149541517	chr19:35851965-35851966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116540068	chr19:35851967-35851968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544469533	chr19:35851968-35851969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561155709	chr19:35852102-35852103	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs756902	chr19:35852103-35852104	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs181339284	chr19:35852113-35852114	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs560421773	chr19:35852115-35852116	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs532621514	chr19:35852121-35852122	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs552629745	chr19:35852143-35852144	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs186890508	chr19:35852229-35852230	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs2312585	chr19:35852234-35852235	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs35329095	chr19:35852261-35852262	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs545176329	chr19:35852277-35852278	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs548460972	chr19:35852292-35852293	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs191693852	chr19:35852324-35852325	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs533790827	chr19:35852331-35852332	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs74637637	chr19:35852333-35852334	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs144170972	chr19:35852343-35852344	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs539492403	chr19:35852411-35852412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555756400	chr19:35852415-35852416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575592678	chr19:35852421-35852422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34216531	chr19:35852442-35852443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544506292	chr19:35852471-35852472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377653272	chr19:35852496-35852497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561292971	chr19:35852504-35852505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565340491	chr19:35852514-35852515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370972820	chr19:35852538-35852539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374883710	chr19:35852582-35852583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76154507	chr19:35852585-35852586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565875543	chr19:35852596-35852597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539210357	chr19:35852638-35852639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs756903	chr19:35852693-35852694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532518601	chr19:35852694-35852695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552666485	chr19:35852751-35852752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562876406	chr19:35852783-35852784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531788980	chr19:35852784-35852785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182208795	chr19:35852803-35852804	Enhancers	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
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
Multiple myeloma	17550852	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35847200-35852000	Weak transcription	GM12878-XiMat	blood
2	chr19:35849400-35851800	Weak transcription	HepG2	liver
3	chr19:35849600-35851800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr19:35849600-35852000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:35851600-35853000	Enhancers	Pancreas	Pancrea
6	chr19:35851800-35852200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr19:35851800-35852200	Enhancers	HepG2	liver
8	chr19:35852000-35852400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr19:35852000-35852400	Enhancers	GM12878-XiMat	blood
10	chr19:35852000-35852600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:35852200-35852400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr19:35853200-35853400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:35854400-35855000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:35856400-35856600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
15	chr19:35864200-35864400	Enhancers	GM12878-XiMat	blood
16	chr19:35864200-35865800	Enhancers	Placenta Amnion	Placenta Amnion

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