Variant report

Variant	nsv978799
Chromosome Location	chr19:24346876-24348513
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	JUND	chr19:24347791-24347922	HepG2	liver:	n/a	chr19:24347867-24347874 chr19:24347864-24347875 chr19:24347865-24347874
2	MAFK	chr19:24348122-24348193	IMR90	lung:	n/a	n/a
3	POLR2A	chr19:24347908-24347973	HUVEC	blood vessel:	n/a	n/a
4	STAT3	chr19:24346827-24346994	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
HAVCR1P1	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546131256	chr19:24346880-24346881	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs539512743	chr19:24346916-24346917	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs142187502	chr19:24346935-24346936	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs34939730	chr19:24346972-24346973	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs111358422	chr19:24346997-24346998	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs189456455	chr19:24347001-24347002	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs567999930	chr19:24347004-24347005	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs79814627	chr19:24347021-24347022	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs138329981	chr19:24347036-24347037	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs553326231	chr19:24347050-24347051	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs578136468	chr19:24347083-24347084	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs545245714	chr19:24347086-24347087	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs559654222	chr19:24347114-24347115	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs192360522	chr19:24347136-24347137	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs575296928	chr19:24347168-24347169	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs149446475	chr19:24347228-24347229	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs143880176	chr19:24347229-24347230	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs529199178	chr19:24347281-24347282	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs560925241	chr19:24347314-24347315	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs140370742	chr19:24347337-24347338	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs559349142	chr19:24347341-24347342	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs533172419	chr19:24347372-24347373	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs531405219	chr19:24347377-24347378	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs371311463	chr19:24347393-24347394	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs75342017	chr19:24347428-24347429	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs530612085	chr19:24347442-24347443	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs183833459	chr19:24347464-24347465	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs567237780	chr19:24347471-24347472	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs144283520	chr19:24347486-24347487	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs547294457	chr19:24347540-24347541	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs77021506	chr19:24347566-24347567	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs538858665	chr19:24347598-24347599	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs557126057	chr19:24347621-24347622	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs575382606	chr19:24347641-24347642	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs536322221	chr19:24347643-24347644	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs369493692	chr19:24347652-24347653	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs528319244	chr19:24347658-24347659	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs188147768	chr19:24347672-24347673	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs371758252	chr19:24347676-24347677	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs181474994	chr19:24347681-24347682	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs549625090	chr19:24347735-24347736	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs559601069	chr19:24347801-24347802	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs577819217	chr19:24347838-24347839	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs545263670	chr19:24347853-24347854	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs563469057	chr19:24347864-24347865	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs35954946	chr19:24347917-24347918	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs530657689	chr19:24347953-24347954	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs114590018	chr19:24347966-24347967	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs368493909	chr19:24347978-24347979	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs528094428	chr19:24347989-24347990	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	21248843	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24320800-24349200	Weak transcription	Right Ventricle	heart
2	chr19:24321200-24347800	Weak transcription	NH-A	brain
3	chr19:24322200-24348400	Weak transcription	HSMMtube	muscle
4	chr19:24328600-24349400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:24334400-24349000	Weak transcription	Fetal Heart	heart
6	chr19:24337000-24359200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:24339400-24351200	Weak transcription	HSMM	muscle
8	chr19:24344000-24348000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:24344200-24347400	ZNF genes & repeats	Fetal Brain Female	brain
10	chr19:24344400-24354800	Weak transcription	Dnd41	blood
11	chr19:24345000-24347200	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr19:24345000-24347800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr19:24345200-24347000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:24345400-24347000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
15	chr19:24345800-24349200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:24346000-24357200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr19:24346200-24348200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr19:24346400-24357200	Weak transcription	Left Ventricle	heart
19	chr19:24346800-24350000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:24347000-24348600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr19:24347800-24348200	ZNF genes & repeats	Fetal Muscle Leg	muscle
22	chr19:24347800-24357000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:24348000-24348800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:24348400-24350000	Enhancers	HSMMtube	muscle

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