Variant report

Variant	nsv963025
Chromosome Location	chr19:21742797-21754765
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	BHLHE40	chr19:21748929-21749238	K562	blood:	n/a	chr19:21749052-21749073 chr19:21749056-21749069
2	CEBPB	chr19:21750808-21751049	K562	blood:	n/a	n/a
3	CEBPB	chr19:21750847-21750982	K562	blood:	n/a	n/a
4	CHD2	chr19:21752031-21752238	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr19:21753960-21754110	GM12865	blood:	n/a	n/a
6	E2F4	chr19:21750186-21750225	MCF10A-Er-Src	breast:	n/a	n/a
7	ELF1	chr19:21751768-21752387	MCF-7	breast:	n/a	n/a
8	ELF1	chr19:21751794-21752441	MCF-7	breast:	n/a	n/a
9	EP300	chr19:21749022-21749165	K562	blood:	n/a	n/a
10	FOS	chr19:21748977-21749159	MCF10A-Er-Src	breast:	n/a	n/a
11	FOXA2	chr19:21750825-21751193	A549	lung:	n/a	n/a
12	GABPA	chr19:21751741-21752336	MCF-7	breast:	n/a	n/a
13	GABPA	chr19:21751655-21752522	MCF-7	breast:	n/a	n/a
14	HEY1	chr19:21751841-21751988	HepG2	liver:	n/a	n/a
15	HEY1	chr19:21751782-21752096	K562	blood:	n/a	n/a
16	HEY1	chr19:21751803-21752127	HepG2	liver:	n/a	n/a
17	HEY1	chr19:21751817-21752053	K562	blood:	n/a	n/a
18	JUN	chr19:21748886-21749378	K562	blood:	n/a	chr19:21749301-21749310
19	JUND	chr19:21748948-21749163	K562	blood:	n/a	n/a
20	MAFF	chr19:21747359-21747568	K562	blood:	n/a	n/a
21	MAFK	chr19:21753996-21754009	K562	blood:	n/a	n/a
22	MAFK	chr19:21747309-21747516	HepG2	liver:	n/a	n/a
23	MAX	chr19:21752172-21752173	NB4	blood:	n/a	n/a
24	MAZ	chr19:21751797-21752330	IMR90	lung:	n/a	n/a
25	MAZ	chr19:21749027-21749222	K562	blood:	n/a	chr19:21749058-21749067 chr19:21749057-21749066
26	NFYA	chr19:21751948-21752166	K562	blood:	n/a	chr19:21752106-21752119 chr19:21752107-21752117 chr19:21752078-21752088 chr19:21752100-21752118 chr19:21752105-21752119
27	NFYB	chr19:21749004-21749204	K562	blood:	n/a	n/a
28	NFYB	chr19:21751859-21752289	K562	blood:	n/a	chr19:21752106-21752119 chr19:21752107-21752117 chr19:21752078-21752088 chr19:21752105-21752119
29	NFYB	chr19:21751951-21752188	GM12878	blood:	n/a	chr19:21752106-21752119 chr19:21752107-21752117 chr19:21752078-21752088 chr19:21752105-21752119
30	POLR2A	chr19:21751712-21752114	ProgFib	skin:	n/a	n/a
31	POLR2A	chr19:21751785-21752030	GM12892	blood:	n/a	n/a
32	POLR2A	chr19:21751776-21752042	GM12878	blood:	n/a	n/a
33	POLR2A	chr19:21751759-21752117	GM12891	blood:	n/a	n/a
34	POLR2A	chr19:21751706-21752653	MCF-7	breast:	n/a	n/a
35	POLR2A	chr19:21751712-21752254	MCF-7	breast:	n/a	n/a
36	POLR2A	chr19:21751771-21752191	GM12892	blood:	n/a	n/a
37	POLR2A	chr19:21751697-21752184	GM12891	blood:	n/a	n/a
38	POLR2A	chr19:21751779-21752078	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr19:21751828-21751988	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr19:21751475-21752310	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr19:21752117-21752311	GM12891	blood:	n/a	n/a
42	POLR2A	chr19:21752137-21752281	ProgFib	skin:	n/a	n/a
43	POLR2A	chr19:21751812-21752372	Raji	blood:	n/a	n/a
44	POLR2A	chr19:21751845-21751977	HepG2	liver:	n/a	n/a
45	POLR2A	chr19:21751780-21752008	GM12878	blood:	n/a	n/a
46	POLR2A	chr19:21751702-21752696	PFSK-1	brain:	n/a	n/a
47	POLR2A	chr19:21751548-21752730	PBDE	blood:	n/a	n/a
48	POLR2A	chr19:21751832-21751986	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr19:21751841-21752007	GM12878	blood:	n/a	n/a
50	POLR2A	chr19:21752460-21752495	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21687245..21689707-chr19:21740240..21743085,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF100-2	chr19:21754050-21754341	NONHSAT063727
2	lnc-ZNF100-3	chr19:21748631-21748673	XLOC_013263
3	lnc-ZNF100-3	chr19:21751906-21752039	ENSG00000268081.1
4	lnc-ZNF100-2	chr19:21753139-21754341	ENSG00000249473
5	lnc-ZNF100-2	chr19:21753624-21754341	ENSG00000268555.1
6	lnc-ZNF100-2	chr19:21752904-21754341	NONHSAT063726
7	lnc-ZNF100-3	chr19:21747057-21747283	XLOC_013263
8	lnc-ZNF100-3	chr19:21744136-21747283	XLOC_013263
9	lnc-ZNF100-3	chr19:21751906-21752048	XLOC_013263

Variant related genes	Relation type
ENSG00000268081	TF binding region
ENSG00000197013	chromatin interactions

Extended variants
information (count: 735 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572760163	chr19:21742801-21742802	Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs533573381	chr19:21742819-21742820	Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs58001930	chr19:21742863-21742864	Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs529630021	chr19:21742892-21742893	Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113660455	chr19:21742899-21742900	Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs199970453	chr19:21742913-21742914	Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs199539298	chr19:21742925-21742926	Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs367737437	chr19:21742939-21742940	Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs544418785	chr19:21742951-21742952	Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs183106534	chr19:21742965-21742966	Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200399937	chr19:21742985-21742986	Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201143193	chr19:21742986-21742987	Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113129842	chr19:21742989-21742990	Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs77454378	chr19:21743000-21743001	Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs113442115	chr19:21743017-21743018	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542111679	chr19:21743019-21743020	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs201538449	chr19:21743053-21743054	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs538551698	chr19:21743085-21743086	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs376607791	chr19:21743113-21743114	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7248097	chr19:21743168-21743169	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs187741909	chr19:21743197-21743198	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116648213	chr19:21743213-21743214	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs7247918	chr19:21743220-21743221	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs371021908	chr19:21743223-21743224	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs117249025	chr19:21743227-21743228	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs549939882	chr19:21743248-21743249	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs112585505	chr19:21743261-21743262	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs543381488	chr19:21743267-21743268	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs568349166	chr19:21743275-21743276	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs568717147	chr19:21743290-21743291	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs111402177	chr19:21743322-21743323	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs373503767	chr19:21743336-21743337	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs566244727	chr19:21743358-21743359	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs146104755	chr19:21743359-21743360	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs193285574	chr19:21743391-21743392	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs11881834	chr19:21743404-21743405	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs537976200	chr19:21743405-21743406	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs184215490	chr19:21743421-21743422	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs542619876	chr19:21743440-21743441	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs574656902	chr19:21743454-21743455	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs532673820	chr19:21743459-21743460	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs377669061	chr19:21743480-21743481	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs556529648	chr19:21743541-21743542	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs542050415	chr19:21743595-21743596	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs553994473	chr19:21743607-21743608	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs576763885	chr19:21743691-21743692	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs140070496	chr19:21743789-21743790	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs145260222	chr19:21743868-21743869	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs142289308	chr19:21743883-21743884	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs200232724	chr19:21743888-21743889	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:38)

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

Chromatin state (count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21735800-21744800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:21736400-21743000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:21737200-21743000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr19:21737200-21747200	ZNF genes & repeats	Fetal Intestine Small	intestine
5	chr19:21738000-21749400	Weak transcription	Left Ventricle	heart
6	chr19:21738000-21751400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr19:21738600-21751600	Weak transcription	Osteobl	bone
8	chr19:21738800-21746000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr19:21738800-21746400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:21739000-21742800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr19:21739400-21751200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr19:21740200-21743000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
13	chr19:21740200-21746400	ZNF genes & repeats	Fetal Intestine Large	intestine
14	chr19:21740600-21743000	ZNF genes & repeats	Fetal Lung	lung
15	chr19:21740600-21750600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:21740800-21742800	ZNF genes & repeats	Lung	lung
17	chr19:21741000-21743000	ZNF genes & repeats	Fetal Stomach	stomach
18	chr19:21741000-21743200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
19	chr19:21741600-21746000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr19:21742200-21742800	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
21	chr19:21742200-21742800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
22	chr19:21742200-21743200	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr19:21742200-21743200	Strong transcription	Fetal Kidney	kidney
24	chr19:21742200-21745200	ZNF genes & repeats	Liver	Liver
25	chr19:21742400-21742800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr19:21742400-21742800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr19:21742400-21742800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr19:21742400-21743000	Active TSS	Colon Smooth Muscle	Colon
29	chr19:21742400-21743000	Strong transcription	Dnd41	blood
30	chr19:21742400-21743200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
31	chr19:21742400-21743200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
32	chr19:21742400-21743200	Strong transcription	Ovary	ovary
33	chr19:21742400-21743400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
34	chr19:21742600-21743000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
35	chr19:21742600-21743200	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr19:21742800-21750600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr19:21743000-21744200	Weak transcription	Dnd41	blood
38	chr19:21743000-21746400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr19:21743200-21744400	Weak transcription	Fetal Kidney	kidney
40	chr19:21743200-21746000	Weak transcription	Primary T cells from cord blood	blood
41	chr19:21743200-21746000	Weak transcription	Adipose Nuclei	Adipose
42	chr19:21743200-21746000	Weak transcription	Ovary	ovary
43	chr19:21743200-21750400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr19:21743400-21745800	ZNF genes & repeats	Fetal Stomach	stomach
45	chr19:21743600-21751600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:21743800-21745000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr19:21744200-21744800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:21744200-21744800	ZNF genes & repeats	Dnd41	blood
49	chr19:21744200-21745000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
50	chr19:21744200-21747000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood

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