Variant report

Variant	nsv978794
Chromosome Location	chr19:22815787-22837000
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:793)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr19:22815831-22815842	K562	blood:	n/a	n/a
2	CEBPB	chr19:22833864-22833879	HepG2	liver:	n/a	n/a
3	CEBPB	chr19:22833844-22834030	IMR90	lung:	n/a	chr19:22833871-22833882
4	CTCF	chr19:22816985-22816998	Spleen_OC	spleen:	n/a	n/a
5	CTCF	chr19:22827326-22827416	GM13976	blood:	n/a	n/a
6	CTCF	chr19:22817523-22817539	ProgFib	skin:	n/a	n/a
7	CTCF	chr19:22818792-22818827	Lung_OC	lung:	n/a	n/a
8	CTCF	chr19:22833520-22833670	WERI-Rb-1	eye:	n/a	n/a
9	E2F4	chr19:22822629-22822941	MCF10A-Er-Src	breast:	n/a	n/a
10	ELF1	chr19:22816851-22817176	MCF-7	breast:	n/a	chr19:22817107-22817116 chr19:22817106-22817117
11	GABPA	chr19:22816642-22817382	SK-N-SH	brain:	n/a	n/a
12	GABPA	chr19:22816687-22817374	MCF-7	breast:	n/a	n/a
13	GABPA	chr19:22816619-22817478	SK-N-SH	brain:	n/a	n/a
14	GABPA	chr19:22816744-22817296	HL-60	blood:	n/a	n/a
15	GABPA	chr19:22816662-22817286	HL-60	blood:	n/a	n/a
16	GABPA	chr19:22816749-22817586	MCF-7	breast:	n/a	n/a
17	HEY1	chr19:22817055-22817347	K562	blood:	n/a	n/a
18	HEY1	chr19:22817037-22817298	HepG2	liver:	n/a	n/a
19	HEY1	chr19:22817063-22817388	K562	blood:	n/a	n/a
20	HEY1	chr19:22817133-22817292	HepG2	liver:	n/a	n/a
21	MAX	chr19:22816756-22817240	NB4	blood:	n/a	chr19:22817012-22817022 chr19:22817016-22817026
22	MXI1	chr19:22816820-22817666	IMR90	lung:	n/a	n/a
23	MXI1	chr19:22816466-22817708	SK-N-SH	brain:	n/a	n/a
24	MYC	chr19:22817061-22817188	MCF-7	breast:	n/a	n/a
25	MYC	chr19:22816748-22817275	NB4	blood:	n/a	chr19:22817012-22817022 chr19:22817016-22817026
26	PBX3	chr19:22816678-22817342	SK-N-SH	brain:	n/a	chr19:22816996-22817005 chr19:22816983-22817003 chr19:22816953-22816962
27	PBX3	chr19:22816765-22817206	SK-N-SH	brain:	n/a	chr19:22816996-22817005 chr19:22816983-22817003 chr19:22816953-22816962
28	POLR2A	chr19:22817056-22817503	GM12892	blood:	n/a	n/a
29	POLR2A	chr19:22817062-22817278	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr19:22816914-22817730	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr19:22820264-22820351	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr19:22817064-22817284	GM12891	blood:	n/a	n/a
33	POLR2A	chr19:22817033-22817282	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr19:22817094-22817320	GM12878	blood:	n/a	n/a
35	POLR2A	chr19:22817063-22817293	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr19:22817438-22817583	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr19:22817073-22817388	HL-60	blood:	n/a	n/a
38	POLR2A	chr19:22817063-22817505	GM12892	blood:	n/a	n/a
39	POLR2A	chr19:22817030-22817334	PFSK-1	brain:	n/a	n/a
40	POLR2A	chr19:22817054-22817561	MCF-7	breast:	n/a	n/a
41	POLR2A	chr19:22817027-22817314	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr19:22817296-22817594	MCF-7	breast:	n/a	n/a
43	POLR2A	chr19:22817385-22817616	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr19:22817532-22817564	MCF-7	breast:	n/a	n/a
45	POLR2A	chr19:22817063-22817350	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr19:22817391-22817576	GM12878	blood:	n/a	n/a
47	POLR2A	chr19:22817065-22817460	GM12891	blood:	n/a	n/a
48	POLR2A	chr19:22816675-22817497	MCF-7	breast:	n/a	n/a
49	POLR2A	chr19:22817069-22817290	GM12891	blood:	n/a	n/a
50	POLR2A	chr19:22817110-22817347	GM12878	blood:	n/a	n/a

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:22816508-22816558	ProgFib	skin:	n/a
2	chr19:22817039-22817089	NHBE	bronchial:	n/a
3	chr19:22815853-22815903	K562	blood:	n/a
4	chr19:22817496-22817546	AG09309	skin:	n/a
5	chr19:22817348-22817398	NHBE	bronchial:	n/a
6	chr19:22817774-22817824	MCF-7	breast:	n/a
7	chr19:22817096-22817146	AG09309	skin:	n/a
8	chr19:22817039-22817089	T-47D	breast:	n/a
9	chr19:22817371-22817421	GM19239	blood:	n/a
10	chr19:22817496-22817546	Hepatocyte	liver:	n/a
11	chr19:22817017-22817067	HRPEpiC	eye:	n/a
12	chr19:22816896-22816946	T-47D	breast:	n/a
13	chr19:22816950-22817000	LNCaP	prostate:	n/a
14	chr19:22817496-22817546	Jurkat	blood:	n/a
15	chr19:22817371-22817421	AG09319	gingival:	n/a
16	chr19:22817176-22817226	NB4	blood:	n/a
17	chr19:22817096-22817146	GM12892	blood:	n/a
18	chr19:22817176-22817226	HCT-116	colon:	n/a
19	chr19:22817496-22817546	HL-60	blood:	n/a
20	chr19:22817096-22817146	AG09319	gingival:	n/a
21	chr19:22817096-22817146	HCT-116	colon:	n/a
22	chr19:22817348-22817398	H1-hESC	embryonic stem cell:	embryo
23	chr19:22817039-22817089	NH-A	brain:	n/a
24	chr19:22817096-22817146	ProgFib	skin:	n/a
25	chr19:22817496-22817546	NB4	blood:	n/a
26	chr19:22817096-22817146	MCF-7	breast:	n/a
27	chr19:22816980-22817030	AG04450	lung:	fetal
28	chr19:22816950-22817000	IMR90	lung:	fetal
29	chr19:22815853-22815903	HCF	heart:	n/a
30	chr19:22816950-22817000	PFSK-1	brain:	n/a
31	chr19:22816508-22816558	AG09309	skin:	n/a
32	chr19:22817096-22817146	IMR90	lung:	fetal
33	chr19:22817348-22817398	PrEC	prostate:	n/a
34	chr19:22817039-22817089	HRCEpiC	kidney:	n/a
35	chr19:22817496-22817546	ovcar-3	ovarian:	n/a
36	chr19:22817371-22817421	HUVEC	blood vessel:	n/a
37	chr19:22817039-22817089	RPTEC	kidney:	n/a
38	chr19:22817496-22817546	HIPEpiC	eye:	n/a
39	chr19:22817096-22817146	GM12878	blood:	n/a
40	chr19:22817371-22817421	NH-A	brain:	n/a
41	chr19:22817348-22817398	CMK	blood:	n/a
42	chr19:22817176-22817226	AG09309	skin:	n/a
43	chr19:22817348-22817398	ovcar-3	ovarian:	n/a
44	chr19:22817096-22817146	SAEC	small airway:	n/a
45	chr19:22817371-22817421	CMK	blood:	n/a
46	chr19:22815853-22815903	U87	brain:	n/a
47	chr19:22815853-22815903	MCF-7	breast:	n/a
48	chr19:22817371-22817421	HRCEpiC	kidney:	n/a
49	chr19:22816508-22816558	SKMC	muscle:	n/a
50	chr19:22815853-22815903	HNPCEpiC	eye:	n/a

No data

Variant related genes	Relation type
ZNF492	TF binding region
ZNF492	CpG island

Extended variants
information (count: 605 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:605 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529766054	chr19:22815793-22815794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182724528	chr19:22815811-22815812	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562265200	chr19:22815822-22815823	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550635317	chr19:22815842-22815843	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs542192950	chr19:22815853-22815854	Active TSS Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs373801259	chr19:22815923-22815924	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73028782	chr19:22815924-22815925	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116701472	chr19:22815978-22815979	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34839858	chr19:22816019-22816020	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs372150850	chr19:22816041-22816042	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142964484	chr19:22816042-22816043	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151099538	chr19:22816122-22816123	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2361021	chr19:22816324-22816325	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs538275493	chr19:22816400-22816401	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112640228	chr19:22816409-22816410	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538098149	chr19:22816445-22816446	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556088581	chr19:22816498-22816499	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs2361022	chr19:22816533-22816534	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs558059974	chr19:22816545-22816546	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs367547498	chr19:22816546-22816547	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs535617415	chr19:22816548-22816549	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs554225525	chr19:22816550-22816551	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs572138432	chr19:22816556-22816557	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs67421912	chr19:22816561-22816562	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs144798932	chr19:22816573-22816574	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs35590613	chr19:22816583-22816584	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs34898135	chr19:22816630-22816631	Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs574569917	chr19:22816646-22816647	Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs189148614	chr19:22816665-22816666	Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs191852255	chr19:22816666-22816667	Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs562189762	chr19:22816675-22816676	Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs183987469	chr19:22816690-22816691	Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs112106336	chr19:22816699-22816700	Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs187686914	chr19:22816711-22816712	Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs527352966	chr19:22816729-22816730	Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs552217738	chr19:22816736-22816737	Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs191413419	chr19:22816863-22816864	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs2361023	chr19:22816867-22816868	Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs377343787	chr19:22816898-22816899	Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs568197912	chr19:22816899-22816900	Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs184317045	chr19:22816901-22816902	Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs112485030	chr19:22816907-22816908	Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs547250122	chr19:22816922-22816923	Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs565855214	chr19:22816931-22816932	Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs373099837	chr19:22816964-22816965	Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs539509767	chr19:22816992-22816993	Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs557730809	chr19:22817004-22817005	Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs78396732	chr19:22817017-22817018	Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs563376676	chr19:22817018-22817019	Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs201110647	chr19:22817022-22817023	Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:42)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22811400-22817200	Weak transcription	Spleen	Spleen
2	chr19:22815800-22817400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:22815800-22818000	Active TSS	Muscle Satellite Cultured Cells	--
4	chr19:22816000-22816400	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr19:22816200-22816400	Enhancers	Primary B cells from peripheral blood	blood
6	chr19:22816200-22816400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr19:22816200-22816400	Enhancers	Adipose Nuclei	Adipose
8	chr19:22816200-22816400	Enhancers	Brain Hippocampus Middle	brain
9	chr19:22816200-22816400	Enhancers	Fetal Brain Male	brain
10	chr19:22816200-22816400	Enhancers	Placenta	Placenta
11	chr19:22816200-22816600	Enhancers	Pancreas	Pancrea
12	chr19:22816200-22817200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:22816200-22817200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr19:22816200-22817400	Active TSS	Primary T cells from cord blood	blood
15	chr19:22816200-22817400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:22816200-22817400	Active TSS	Fetal Brain Female	brain
17	chr19:22816200-22817400	Active TSS	Stomach Smooth Muscle	stomach
18	chr19:22816200-22817800	Active TSS	Colonic Mucosa	Colon
19	chr19:22816200-22817800	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr19:22816200-22818000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:22816200-22818400	Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr19:22816200-22818400	Active TSS	Monocytes-CD14+_RO01746	blood
23	chr19:22816400-22816600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr19:22816400-22816600	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr19:22816400-22816600	Enhancers	Primary hematopoietic stem cells	blood
26	chr19:22816400-22816600	Flanking Active TSS	Fetal Thymus	thymus
27	chr19:22816400-22816800	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr19:22816400-22816800	Flanking Active TSS	Dnd41	blood
29	chr19:22816400-22817200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr19:22816400-22817200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:22816400-22817200	Active TSS	Fetal Muscle Trunk	muscle
32	chr19:22816400-22817200	Active TSS	Placenta	Placenta
33	chr19:22816400-22817400	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr19:22816400-22817400	Active TSS	Primary B cells from cord blood	blood
35	chr19:22816400-22817400	Active TSS	Primary T cells fromperipheralblood	blood
36	chr19:22816400-22817400	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr19:22816400-22817400	Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr19:22816400-22817400	Active TSS	Brain Angular Gyrus	brain
39	chr19:22816400-22817400	Active TSS	Brain Germinal Matrix	brain
40	chr19:22816400-22817400	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr19:22816400-22817400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr19:22816400-22817400	Active TSS	Fetal Brain Male	brain
43	chr19:22816400-22817400	Active TSS	Fetal Lung	lung
44	chr19:22816400-22817400	Active TSS	Fetal Muscle Leg	muscle
45	chr19:22816400-22817400	Active TSS	Fetal Stomach	stomach
46	chr19:22816400-22817400	Active TSS	Ovary	ovary
47	chr19:22816400-22817400	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr19:22816400-22817400	Active TSS	Rectal Smooth Muscle	rectum
49	chr19:22816400-22817400	Active TSS	Right Atrium	heart
50	chr19:22816400-22817400	Active TSS	Thymus	Thymus

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