Variant report

Variant	nsv961199
Chromosome Location	chr19:23305832-23307391
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	CEBPB	chr19:23307308-23307376	HepG2	liver:	n/a	chr19:23307325-23307336
2	POLR2A	chr19:23306803-23307014	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr19:23306629-23306729	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:23305214..23307140-chr19:23310499..23313073,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF724P-4	chr19:23305990-23306890	NONHSAT063861

Variant related genes	Relation type
ENSG00000268105	TF binding region
ENSG00000270479	TF binding region
ENSG00000267920	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570573414	chr19:23305855-23305856	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs538411888	chr19:23305859-23305860	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs112663657	chr19:23305945-23305946	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs185506421	chr19:23306028-23306029	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs369460928	chr19:23306068-23306069	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs575058105	chr19:23306080-23306081	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs542184247	chr19:23306083-23306084	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs368599264	chr19:23306151-23306152	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs528468727	chr19:23306198-23306199	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs554133358	chr19:23306199-23306200	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs572388655	chr19:23306233-23306234	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs542554183	chr19:23306277-23306278	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs564193858	chr19:23306301-23306302	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs370768208	chr19:23306311-23306312	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs529810063	chr19:23306327-23306328	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs543970560	chr19:23306359-23306360	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs535326114	chr19:23306380-23306381	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs79201247	chr19:23306381-23306382	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs562378243	chr19:23306388-23306389	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs529980474	chr19:23306392-23306393	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs548238208	chr19:23306448-23306449	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs202195409	chr19:23306453-23306454	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs200239391	chr19:23306454-23306455	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs146807352	chr19:23306455-23306456	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs397785358	chr19:23306462-23306463	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs201000082	chr19:23306463-23306464	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs188320612	chr19:23306526-23306527	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs372057646	chr19:23306533-23306534	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs73031422	chr19:23306671-23306672	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs150120773	chr19:23306703-23306704	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs138432683	chr19:23306733-23306734	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs537972038	chr19:23306743-23306744	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs1037993	chr19:23306806-23306807	Strong transcription ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs6511407	chr19:23306822-23306823	Strong transcription ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs149253376	chr19:23306829-23306830	Strong transcription ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs551154347	chr19:23306886-23306887	Strong transcription ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs554130189	chr19:23306891-23306892	Strong transcription ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs180833468	chr19:23306994-23306995	Strong transcription ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs538963528	chr19:23306997-23306998	Strong transcription ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs539421629	chr19:23307034-23307035	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs1037994	chr19:23307043-23307044	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs2169589	chr19:23307136-23307137	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs371318739	chr19:23307149-23307150	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs543538098	chr19:23307153-23307154	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs184016392	chr19:23307154-23307155	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs1037995	chr19:23307155-23307156	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs542019075	chr19:23307243-23307244	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs559065720	chr19:23307244-23307245	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs146178983	chr19:23307247-23307248	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs114911836	chr19:23307254-23307255	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
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	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23300400-23306800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:23300600-23306600	Weak transcription	Ovary	ovary
3	chr19:23300600-23306800	Weak transcription	Thymus	Thymus
4	chr19:23300600-23310400	Weak transcription	Right Atrium	heart
5	chr19:23300800-23306200	Weak transcription	Primary B cells from cord blood	blood
6	chr19:23301000-23306800	Weak transcription	NH-A	brain
7	chr19:23301000-23310200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:23301000-23310600	Weak transcription	Fetal Kidney	kidney
9	chr19:23301000-23310800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr19:23301400-23307400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:23301400-23307800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr19:23301400-23310200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr19:23301400-23317000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:23301600-23306800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr19:23301800-23308000	ZNF genes & repeats	Dnd41	blood
16	chr19:23301800-23317000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:23302800-23309600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr19:23302800-23312200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:23303000-23306800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr19:23303400-23306400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:23303600-23312200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr19:23304000-23306000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr19:23304000-23306600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:23304000-23311200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr19:23304600-23307000	Weak transcription	HSMM	muscle
26	chr19:23305000-23307600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
27	chr19:23305200-23306400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:23305200-23311400	ZNF genes & repeats	Brain Germinal Matrix	brain
29	chr19:23305400-23306200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:23305400-23308400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:23305600-23306600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr19:23305600-23309800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr19:23305800-23306000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
34	chr19:23305800-23306000	ZNF genes & repeats	Fetal Lung	lung
35	chr19:23305800-23308400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr19:23306000-23307200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr19:23306400-23308200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:23306600-23307600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr19:23306600-23312400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr19:23306800-23307000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr19:23306800-23307000	ZNF genes & repeats	NHLF	lung
42	chr19:23306800-23307200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr19:23306800-23307200	ZNF genes & repeats	Thymus	Thymus
44	chr19:23306800-23307200	ZNF genes & repeats	NH-A	brain
45	chr19:23306800-23308000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:23306800-23310600	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr19:23306800-23311400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
48	chr19:23306800-23311400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
49	chr19:23307000-23307200	ZNF genes & repeats	HSMM	muscle
50	chr19:23307000-23310000	Weak transcription	NHLF	lung

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