Variant report

Variant	nsv963019
Chromosome Location	chr19:19788392-19789561
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	chr19:19788383-19788489	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr19:19788811-19788976	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr19:19788450-19788479	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19787138..19789132-chr19:19790779..19792628,2	K562	blood:
2	chr19:19779580..19781317-chr19:19788331..19791225,2	MCF-7	breast:

Variant related genes	Relation type
ZNF101	TF binding region
ENSG00000181896	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573363022	chr19:19788461-19788462	ZNF genes & repeats Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs184086037	chr19:19788532-19788533	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187358075	chr19:19788533-19788534	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs201310050	chr19:19788534-19788535	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs148969546	chr19:19788538-19788539	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs138951574	chr19:19788539-19788540	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs67639280	chr19:19788540-19788541	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs71172512	chr19:19788541-19788542	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370624894	chr19:19788542-19788543	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs187252885	chr19:19788549-19788550	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs145713637	chr19:19788551-19788552	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs148939492	chr19:19788586-19788587	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs143174737	chr19:19788587-19788588	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs185051673	chr19:19788590-19788591	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540501797	chr19:19788595-19788596	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs370504980	chr19:19788627-19788628	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs373976201	chr19:19788630-19788631	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs190290939	chr19:19788638-19788639	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs529113509	chr19:19788643-19788644	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs549168615	chr19:19788645-19788646	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs562164882	chr19:19788652-19788653	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs202048078	chr19:19788662-19788663	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs140042609	chr19:19788681-19788682	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs191820490	chr19:19788703-19788704	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs61732588	chr19:19788711-19788712	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371479494	chr19:19788729-19788730	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs377242228	chr19:19788747-19788748	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs551033773	chr19:19788767-19788768	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs150949920	chr19:19788768-19788769	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs369819591	chr19:19788780-19788781	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs193014623	chr19:19788783-19788784	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs372036831	chr19:19788794-19788795	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs139507931	chr19:19788795-19788796	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs148281977	chr19:19788811-19788812	ZNF genes & repeats Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs200635559	chr19:19788841-19788842	ZNF genes & repeats Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs372448819	chr19:19788844-19788845	ZNF genes & repeats Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs16996227	chr19:19788845-19788846	ZNF genes & repeats Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs555500115	chr19:19788916-19788917	ZNF genes & repeats Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs141299754	chr19:19788933-19788934	ZNF genes & repeats Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs537546464	chr19:19788967-19788968	ZNF genes & repeats Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs557498827	chr19:19788968-19788969	ZNF genes & repeats Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs577553483	chr19:19788979-19788980	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539815873	chr19:19789032-19789033	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs200595140	chr19:19789034-19789035	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs375473498	chr19:19789038-19789039	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs560416089	chr19:19789058-19789059	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs10407741	chr19:19789083-19789084	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs542851512	chr19:19789149-19789150	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs189504657	chr19:19789156-19789157	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs531072945	chr19:19789178-19789179	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	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
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19780200-19789800	Weak transcription	Fetal Brain Male	brain
2	chr19:19780200-19790000	Weak transcription	Fetal Heart	heart
3	chr19:19780600-19788800	Weak transcription	Fetal Kidney	kidney
4	chr19:19780600-19788800	Weak transcription	HSMMtube	muscle
5	chr19:19780600-19790000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr19:19780600-19795000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:19780800-19789800	Weak transcription	Psoas Muscle	Psoas
8	chr19:19780800-19790000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr19:19780800-19795000	ZNF genes & repeats	Fetal Thymus	thymus
10	chr19:19780800-19795000	ZNF genes & repeats	Thymus	Thymus
11	chr19:19781000-19788400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr19:19781000-19788400	Weak transcription	Fetal Lung	lung
13	chr19:19781000-19788400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr19:19781000-19789600	Weak transcription	Fetal Brain Female	brain
15	chr19:19781000-19789800	Weak transcription	Brain Substantia Nigra	brain
16	chr19:19781000-19792600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:19781200-19789800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr19:19781200-19790000	Weak transcription	Colon Smooth Muscle	Colon
19	chr19:19781200-19795800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr19:19781400-19790000	Weak transcription	Right Ventricle	heart
21	chr19:19781400-19792800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
22	chr19:19781400-19793000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
23	chr19:19781400-19793400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:19781600-19789200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr19:19781600-19795000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
26	chr19:19781800-19794400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
27	chr19:19782000-19795000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:19782000-19795600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr19:19782000-19798200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:19782200-19789800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr19:19782200-19789800	Weak transcription	Brain Germinal Matrix	brain
32	chr19:19782600-19793800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:19782800-19795000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
34	chr19:19783000-19789000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:19783000-19791200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
36	chr19:19783000-19791600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
37	chr19:19783000-19792200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
38	chr19:19783000-19793400	ZNF genes & repeats	Primary B cells from cord blood	blood
39	chr19:19783000-19795000	ZNF genes & repeats	Primary T cells from cord blood	blood
40	chr19:19783200-19789800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr19:19783400-19795000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr19:19783600-19790200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr19:19784800-19789800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr19:19784800-19792600	ZNF genes & repeats	GM12878-XiMat	blood
45	chr19:19784800-19792800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
46	chr19:19785000-19791200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
47	chr19:19785000-19792200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:19785000-19792600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr19:19785000-19792600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
50	chr19:19785000-19792600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood

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