Variant report

Variant	nsv578954
Chromosome Location	chr19:21587261-21604510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:21593034-21593270	HepG2	liver:	n/a	chr19:21593151-21593162
2	CEBPB	chr19:21592999-21593274	IMR90	lung:	n/a	chr19:21593151-21593162
3	CEBPB	chr19:21593050-21593239	A549	lung:	n/a	chr19:21593151-21593162
4	CEBPB	chr19:21593062-21593258	H1-hESC	embryonic stem cell:	n/a	chr19:21593151-21593162
5	CEBPB	chr19:21593041-21593236	K562	blood:	n/a	chr19:21593151-21593162
6	CTCF	chr19:21596833-21596920	GM13977	blood:	n/a	n/a
7	CTCF	chr19:21588838-21588939	Medullo	brain:	n/a	n/a
8	CTCF	chr19:21591071-21591151	GM13976	blood:	n/a	n/a
9	MYC	chr19:21595260-21595410	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr19:21601322-21602195	K562	blood:	n/a	n/a
11	POLR2A	chr19:21596897-21596939	K562	blood:	n/a	n/a
12	POLR2A	chr19:21602817-21602979	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:21600145-21600158	K562	blood:	n/a	n/a
14	POLR2A	chr19:21596211-21596250	ProgFib	skin:	n/a	n/a
15	POLR2A	chr19:21595130-21595428	GM12892	blood:	n/a	n/a
16	POLR2A	chr19:21602229-21602297	K562	blood:	n/a	n/a
17	POLR2A	chr19:21592161-21592361	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr19:21591116-21591198	MCF-7	breast:	n/a	n/a
19	POLR2A	chr19:21594633-21594700	K562	blood:	n/a	n/a
20	POLR2A	chr19:21595780-21595961	K562	blood:	n/a	n/a
21	POLR2A	chr19:21600133-21600277	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr19:21602328-21602344	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr19:21602464-21602476	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr19:21595091-21595394	GM12878	blood:	n/a	n/a
25	POLR2A	chr19:21602478-21602905	K562	blood:	n/a	n/a
26	POLR2A	chr19:21598232-21598432	K562	blood:	n/a	n/a
27	POLR2A	chr19:21602372-21602445	H1-hESC	embryonic stem cell:	n/a	n/a
28	STAT3	chr19:21604476-21604627	MCF10A-Er-Src	breast:	n/a	n/a
29	ZNF143	chr19:21594975-21595205	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:21591496-21591546	HEEpiC	esophagus:	n/a
2	chr19:21591496-21591546	AG10803	skin:	n/a
3	chr19:21591496-21591546	A549	lung:	n/a
4	chr19:21591496-21591546	NHBE	bronchial:	n/a
5	chr19:21591496-21591546	HPAEpiC	pulmonary alveolar:	n/a
6	chr19:21591496-21591546	NT2-D1	testis:	n/a
7	chr19:21591496-21591546	HL-60	blood:	n/a
8	chr19:21591496-21591546	HAEpiC	amniotic membrane:	n/a
9	chr19:21591496-21591546	Caco-2	colon:	n/a
10	chr19:21591496-21591546	SKMC	muscle:	n/a
11	chr19:21591496-21591546	GM06990	blood:	n/a
12	chr19:21591496-21591546	HCM	heart:	n/a
13	chr19:21591496-21591546	GM19239	blood:	n/a
14	chr19:21591496-21591546	H1-hESC	embryonic stem cell:	embryo
15	chr19:21591496-21591546	T-47D	breast:	n/a
16	chr19:21591496-21591546	AG09309	skin:	n/a
17	chr19:21591496-21591546	U87	brain:	n/a
18	chr19:21591496-21591546	SAEC	small airway:	n/a
19	chr19:21591496-21591546	ovcar-3	ovarian:	n/a
20	chr19:21591496-21591546	ECC-1	luminal epithelium:	n/a
21	chr19:21591496-21591546	SK-N-SH	brain:	n/a
22	chr19:21591496-21591546	RPTEC	kidney:	n/a
23	chr19:21591496-21591546	CMK	blood:	n/a
24	chr19:21591496-21591546	BE2_C	brain:	n/a
25	chr19:21591496-21591546	IMR90	lung:	fetal
26	chr19:21591496-21591546	BJ	skin:	n/a
27	chr19:21591496-21591546	SK-N-MC	brain:	n/a
28	chr19:21591496-21591546	AG04449	skin:	fetal
29	chr19:21591496-21591546	HCPEpiC	choroid plexus:	n/a
30	chr19:21591496-21591546	HRPEpiC	eye:	n/a
31	chr19:21591496-21591546	PFSK-1	brain:	n/a
32	chr19:21591496-21591546	GM12891	blood:	n/a
33	chr19:21591496-21591546	Hela-S3	cervix:	n/a
34	chr19:21591496-21591546	K562	blood:	n/a
35	chr19:21591496-21591546	PANC-1	pancreas:	n/a
36	chr19:21591496-21591546	ProgFib	skin:	n/a
37	chr19:21591496-21591546	HCF	heart:	n/a
38	chr19:21591496-21591546	AoSMC	blood vessel:	n/a
39	chr19:21591496-21591546	AG09319	gingival:	n/a
40	chr19:21591496-21591546	MCF10A-Er-Src	breast:	n/a
41	chr19:21591496-21591546	HEK293	kidney:	embryo
42	chr19:21591496-21591546	HRCEpiC	kidney:	n/a
43	chr19:21591496-21591546	LNCaP	prostate:	n/a
44	chr19:21591496-21591546	NB4	blood:	n/a
45	chr19:21591496-21591546	HNPCEpiC	eye:	n/a
46	chr19:21591496-21591546	HIPEpiC	eye:	n/a
47	chr19:21591496-21591546	Hepatocyte	liver:	n/a
48	chr19:21591496-21591546	GM12892	blood:	n/a
49	chr19:21591496-21591546	HepG2	liver:	n/a
50	chr19:21591496-21591546	PrEC	prostate:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:21578623..21581183-chr19:21590706..21592354,2	MCF-7	breast:
2	chr19:21579150..21580726-chr19:21585084..21587356,2	MCF-7	breast:
3	chr19:21596819..21599115-chr19:21600673..21603133,2	MCF-7	breast:
4	chr19:21584484..21588831-chr19:21589336..21593568,7	K562	blood:
5	chr19:21596819..21599115-chr19:21600673..21603133,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF738-2	chr19:21594742-21597401	NONHSAT063703
2	lnc-ZNF738-4	chr19:21588080-21588658	NONHSAT063702

No data

Variant related genes	Relation type
ENSG00000269237	TF binding region
ZNF493	TF binding region
ENSG00000269237	CpG island
ZNF493	CpG island
ENSG00000196268	chromatin interactions
ENSG00000269237	chromatin interactions

Extended variants
information (count: 767 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:767 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10410762	chr19:21587261-21587262	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529063708	chr19:21587362-21587363	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112867834	chr19:21587383-21587384	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547311642	chr19:21587397-21587398	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2650845	chr19:21587408-21587409	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs539768106	chr19:21587462-21587463	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373637485	chr19:21587478-21587479	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551755232	chr19:21587542-21587543	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2968046	chr19:21587552-21587553	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs184707370	chr19:21587564-21587565	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555806366	chr19:21587612-21587613	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112847523	chr19:21587613-21587614	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555011995	chr19:21587636-21587637	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189688209	chr19:21587659-21587660	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140766970	chr19:21587665-21587666	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192709734	chr19:21587701-21587702	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111262946	chr19:21587722-21587723	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545304000	chr19:21587755-21587756	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563678822	chr19:21587775-21587776	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184424396	chr19:21587825-21587826	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs2650846	chr19:21587829-21587830	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs189126391	chr19:21587830-21587831	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs528988968	chr19:21587883-21587884	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs35143973	chr19:21587890-21587891	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs539403270	chr19:21587891-21587892	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs556176177	chr19:21587892-21587893	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs547522465	chr19:21587896-21587897	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs150860607	chr19:21587900-21587901	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs71176868	chr19:21587911-21587912	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs71283265	chr19:21587912-21587913	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs7254059	chr19:21587918-21587919	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs533227719	chr19:21587922-21587923	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs373192351	chr19:21587936-21587937	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs181874152	chr19:21587986-21587987	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs200905381	chr19:21587998-21587999	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs375871131	chr19:21588016-21588017	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs147407631	chr19:21588038-21588039	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs186517709	chr19:21588045-21588046	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs189143455	chr19:21588113-21588114	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
40	rs567706828	chr19:21588119-21588120	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
41	rs2650847	chr19:21588165-21588166	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs561590393	chr19:21588199-21588200	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
43	rs553498840	chr19:21588239-21588240	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
44	rs571494013	chr19:21588259-21588260	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
45	rs79423723	chr19:21588261-21588262	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
46	rs12462591	chr19:21588263-21588264	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
47	rs143922762	chr19:21588468-21588469	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
48	rs575572583	chr19:21588477-21588478	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
49	rs370856137	chr19:21588525-21588526	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
50	rs373684194	chr19:21588541-21588542	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	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:689 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21580600-21592600	Weak transcription	Placenta	Placenta
2	chr19:21580600-21593200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:21580600-21593600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:21580600-21600200	Weak transcription	Gastric	stomach
5	chr19:21580600-21602400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:21580800-21595400	Weak transcription	HUVEC	blood vessel
7	chr19:21581000-21591800	Weak transcription	Pancreas	Pancrea
8	chr19:21581000-21596200	Weak transcription	Aorta	Aorta
9	chr19:21581000-21598800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:21581200-21590200	Weak transcription	NHLF	lung
11	chr19:21581400-21588400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr19:21581400-21588600	Weak transcription	Fetal Stomach	stomach
13	chr19:21581400-21589000	Weak transcription	K562	blood
14	chr19:21581400-21592000	Weak transcription	NH-A	brain
15	chr19:21581400-21594600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr19:21581400-21596800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr19:21581400-21598800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr19:21581600-21588000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr19:21581600-21589000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr19:21581600-21590000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:21581600-21591800	Weak transcription	Right Ventricle	heart
22	chr19:21581600-21592200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr19:21581600-21592400	Weak transcription	Brain Angular Gyrus	brain
24	chr19:21581600-21592400	Weak transcription	Fetal Kidney	kidney
25	chr19:21581600-21594600	Weak transcription	HepG2	liver
26	chr19:21581600-21601800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:21581800-21588400	Weak transcription	Small Intestine	intestine
28	chr19:21581800-21588800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr19:21581800-21607000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:21582000-21588400	Weak transcription	Adipose Nuclei	Adipose
31	chr19:21582200-21590800	Weak transcription	Fetal Lung	lung
32	chr19:21583200-21588800	Weak transcription	Esophagus	oesophagus
33	chr19:21583600-21588400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:21583600-21588800	Weak transcription	Lung	lung
35	chr19:21583800-21587800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:21583800-21588800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:21583800-21589200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr19:21583800-21592200	Weak transcription	Brain Anterior Caudate	brain
39	chr19:21583800-21595600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr19:21583800-21596200	Weak transcription	Brain Substantia Nigra	brain
41	chr19:21583800-21598200	Weak transcription	Fetal Brain Male	brain
42	chr19:21584000-21587400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr19:21584000-21588000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr19:21584000-21588000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr19:21584000-21588200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr19:21584000-21588600	Weak transcription	Fetal Thymus	thymus
47	chr19:21584000-21591800	Weak transcription	Osteobl	bone
48	chr19:21584000-21592200	Weak transcription	HSMMtube	muscle
49	chr19:21584000-21596200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:21584000-21596200	Weak transcription	Brain Cingulate Gyrus	brain

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