Variant report

Variant	nsv978809
Chromosome Location	chr19:36985082-36988525
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	CTCF	chr19:36987952-36987975	MCF-7	breast:	n/a	n/a
2	CTCF	chr19:36987800-36987950	GM06990	blood:	n/a	n/a
3	CTCF	chr19:36987886-36987980	MCF-7	breast:	n/a	n/a
4	MAFF	chr19:36987967-36988245	HepG2	liver:	n/a	chr19:36988036-36988054 chr19:36988110-36988128
5	MAFK	chr19:36987936-36988252	HepG2	liver:	n/a	chr19:36988116-36988130 chr19:36988038-36988053 chr19:36988038-36988054 chr19:36988115-36988131
6	MAFK	chr19:36988109-36988134	K562	blood:	n/a	chr19:36988116-36988130 chr19:36988115-36988131
7	MAFK	chr19:36987884-36988283	HepG2	liver:	n/a	chr19:36988116-36988130 chr19:36988038-36988053 chr19:36988038-36988054 chr19:36988115-36988131
8	MYC	chr19:36987900-36987984	MCF-7	breast:	n/a	n/a
9	MYC	chr19:36988004-36988149	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:36987983-36987988	MCF-7	breast:	n/a	n/a
11	POLR2A	chr19:36987836-36987987	MCF-7	breast:	n/a	n/a
12	POLR2A	chr19:36987923-36987982	MCF-7	breast:	n/a	n/a
13	POLR2A	chr19:36987253-36987262	HepG2	liver:	n/a	n/a
14	SPI1	chr19:36986426-36986613	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36978237..36981428-chr19:36988174..36990245,3	K562	blood:
2	chr19:36977221..36979834-chr19:36983552..36985787,2	K562	blood:
3	chr19:36978237..36981071-chr19:36988174..36990152,2	K562	blood:

Variant related genes	Relation type
ZNF566	TF binding region
ENSG00000186017	chromatin interactions
ENSG00000267309	chromatin interactions

Extended variants
information (count: 125 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548126318	chr19:36985125-36985126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141876322	chr19:36985177-36985178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569594324	chr19:36985192-36985193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11671587	chr19:36985242-36985243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150647836	chr19:36985369-36985370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534284166	chr19:36985441-36985442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552306381	chr19:36985445-36985446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570799818	chr19:36985510-36985511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552659121	chr19:36985521-36985522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189493704	chr19:36985560-36985561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368014944	chr19:36985577-36985578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35679451	chr19:36985595-36985596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200522595	chr19:36985644-36985645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2912427	chr19:36985645-36985646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs12971760	chr19:36985740-36985741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs146244901	chr19:36985747-36985748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535896771	chr19:36985766-36985767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557720158	chr19:36985771-36985772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139371643	chr19:36985788-36985789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546491081	chr19:36985825-36985826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144159909	chr19:36985834-36985835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112487880	chr19:36985843-36985844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192863658	chr19:36985866-36985867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200508816	chr19:36985892-36985893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12978182	chr19:36985908-36985909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs529868545	chr19:36985909-36985910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541610891	chr19:36985910-36985911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372375908	chr19:36985965-36985966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184396520	chr19:36985994-36985995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188790431	chr19:36986009-36986010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79724687	chr19:36986025-36986026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117717666	chr19:36986056-36986057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34664029	chr19:36986063-36986064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs117479285	chr19:36986081-36986082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577094381	chr19:36986099-36986100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74597160	chr19:36986102-36986103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs118151292	chr19:36986109-36986110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181892432	chr19:36986113-36986114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186250845	chr19:36986115-36986116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539754385	chr19:36986136-36986137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558419631	chr19:36986163-36986164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs8111192	chr19:36986167-36986168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs111302174	chr19:36986247-36986248	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
44	rs12979018	chr19:36986250-36986251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552829281	chr19:36986253-36986254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568000622	chr19:36986256-36986257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2967468	chr19:36986257-36986258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs563148225	chr19:36986289-36986290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530607104	chr19:36986331-36986332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545823210	chr19:36986350-36986351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36981400-36987800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:36987600-36989000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:36987800-36988400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr19:36988400-36989000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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