Variant report

Variant	nsv511620
Chromosome Location	chr19:36749804-36801902
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:208)
CpG islands
(count:735)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:208 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr19:36757608-36757618	K562	blood:	n/a	n/a
2	BHLHE40	chr19:36757499-36757673	K562	blood:	n/a	n/a
3	BRCA1	chr19:36762836-36763037	HepG2	liver:	n/a	n/a
4	CBX3	chr19:36782055-36782327	K562	blood:	n/a	n/a
5	CBX3	chr19:36768844-36769134	K562	blood:	n/a	n/a
6	CBX3	chr19:36795732-36796004	K562	blood:	n/a	n/a
7	CBX3	chr19:36789665-36790026	K562	blood:	n/a	n/a
8	CBX3	chr19:36762724-36763179	K562	blood:	n/a	n/a
9	CBX3	chr19:36787829-36788041	K562	blood:	n/a	n/a
10	CBX3	chr19:36785308-36785504	K562	blood:	n/a	n/a
11	CBX3	chr19:36796036-36796224	K562	blood:	n/a	n/a
12	CCNT2	chr19:36757335-36757662	K562	blood:	n/a	n/a
13	CEBPB	chr19:36757408-36757715	K562	blood:	n/a	n/a
14	CHD2	chr19:36762837-36763034	HepG2	liver:	n/a	n/a
15	CTCF	chr19:36766850-36767038	K562	blood:	n/a	n/a
16	CTCF	chr19:36769382-36769596	K562	blood:	n/a	n/a
17	CTCF	chr19:36776870-36777237	K562	blood:	n/a	n/a
18	CTCF	chr19:36771886-36772289	K562	blood:	n/a	n/a
19	CTCF	chr19:36761661-36762170	K562	blood:	n/a	n/a
20	CTCF	chr19:36784469-36784882	K562	blood:	n/a	n/a
21	CTCF	chr19:36774404-36774622	K562	blood:	n/a	n/a
22	CTCF	chr19:36776957-36777216	K562	blood:	n/a	n/a
23	CTCF	chr19:36794674-36794939	K562	blood:	n/a	n/a
24	CTCF	chr19:36789490-36789986	K562	blood:	n/a	n/a
25	CTCF	chr19:36799747-36799943	K562	blood:	n/a	n/a
26	CTCF	chr19:36774392-36774650	K562	blood:	n/a	n/a
27	CTCF	chr19:36769229-36769752	K562	blood:	n/a	n/a
28	CTCF	chr19:36759247-36759424	K562	blood:	n/a	n/a
29	CTCF	chr19:36762880-36763030	GM12873	blood:	n/a	n/a
30	CTCF	chr19:36797154-36797521	K562	blood:	n/a	n/a
31	CTCF	chr19:36766770-36767062	K562	blood:	n/a	n/a
32	CTCF	chr19:36787024-36787440	K562	blood:	n/a	n/a
33	CTCF	chr19:36782010-36782281	K562	blood:	n/a	n/a
34	CTCF	chr19:36757707-36757802	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr19:36781989-36782277	K562	blood:	n/a	n/a
36	CTCF	chr19:36794609-36795061	K562	blood:	n/a	n/a
37	CTCF	chr19:36764243-36764639	K562	blood:	n/a	n/a
38	CTCF	chr19:36782028-36782324	K562	blood:	n/a	n/a
39	CTCF	chr19:36797216-36797420	K562	blood:	n/a	n/a
40	CTCF	chr19:36784523-36784856	K562	blood:	n/a	n/a
41	CTCF	chr19:36762860-36763010	GM12872	blood:	n/a	n/a
42	CTCF	chr19:36764224-36764534	K562	blood:	n/a	n/a
43	CTCF	chr19:36789628-36789877	K562	blood:	n/a	n/a
44	CTCF	chr19:36771880-36772177	K562	blood:	n/a	n/a
45	CTCF	chr19:36762993-36763034	GM12892	blood:	n/a	n/a
46	CTCF	chr19:36761779-36762037	K562	blood:	n/a	n/a
47	CTCF	chr19:36774379-36774800	K562	blood:	n/a	n/a
48	CTCF	chr19:36759255-36759493	K562	blood:	n/a	n/a
49	CTCF	chr19:36792079-36792467	K562	blood:	n/a	n/a
50	CTCF	chr19:36787079-36787301	K562	blood:	n/a	n/a

(count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:36801484-36801534	HCF	heart:	n/a
2	chr19:36800845-36800895	GM06990	blood:	n/a
3	chr19:36801503-36801553	T-47D	breast:	n/a
4	chr19:36801484-36801534	HCF	heart:	n/a
5	chr19:36800845-36800895	GM06990	blood:	n/a
6	chr19:36801503-36801553	T-47D	breast:	n/a
7	chr19:36799625-36799675	SK-N-MC	brain:	n/a
8	chr19:36794212-36794262	NHBE	bronchial:	n/a
9	chr19:36764158-36764208	ovcar-3	ovarian:	n/a
10	chr19:36764158-36764208	AG10803	skin:	n/a
11	chr19:36794212-36794262	GM19239	blood:	n/a
12	chr19:36801408-36801458	AG09319	gingival:	n/a
13	chr19:36795950-36796000	A549	lung:	n/a
14	chr19:36795950-36796000	HMEC	breast:	n/a
15	chr19:36759220-36759270	AG04449	skin:	fetal
16	chr19:36763026-36763076	H1-hESC	embryonic stem cell:	embryo
17	chr19:36759220-36759270	SK-N-SH	brain:	n/a
18	chr19:36758736-36758786	HRCEpiC	kidney:	n/a
19	chr19:36758736-36758786	PANC-1	pancreas:	n/a
20	chr19:36801503-36801553	GM12878	blood:	n/a
21	chr19:36799625-36799675	HUVEC	blood vessel:	n/a
22	chr19:36801503-36801553	PANC-1	pancreas:	n/a
23	chr19:36801408-36801458	BE2_C	brain:	n/a
24	chr19:36794212-36794262	AG09319	gingival:	n/a
25	chr19:36801408-36801458	AG09309	skin:	n/a
26	chr19:36759220-36759270	LNCaP	prostate:	n/a
27	chr19:36758736-36758786	LNCaP	prostate:	n/a
28	chr19:36801503-36801553	ovcar-3	ovarian:	n/a
29	chr19:36758736-36758786	HCT-116	colon:	n/a
30	chr19:36763026-36763076	Hepatocyte	liver:	n/a
31	chr19:36763026-36763076	K562	blood:	n/a
32	chr19:36764158-36764208	HNPCEpiC	eye:	n/a
33	chr19:36799625-36799675	HNPCEpiC	eye:	n/a
34	chr19:36801484-36801534	HAEpiC	amniotic membrane:	n/a
35	chr19:36800845-36800895	AG04449	skin:	fetal
36	chr19:36801503-36801553	Hela-S3	cervix:	n/a
37	chr19:36763026-36763076	A549	lung:	n/a
38	chr19:36759220-36759270	ovcar-3	ovarian:	n/a
39	chr19:36795950-36796000	H1-hESC	embryonic stem cell:	embryo
40	chr19:36799625-36799675	HCM	heart:	n/a
41	chr19:36801408-36801458	U87	brain:	n/a
42	chr19:36758564-36758614	SKMC	muscle:	n/a
43	chr19:36801484-36801534	NH-A	brain:	n/a
44	chr19:36764158-36764208	PFSK-1	brain:	n/a
45	chr19:36759220-36759270	SKMC	muscle:	n/a
46	chr19:36764158-36764208	T-47D	breast:	n/a
47	chr19:36764158-36764208	HCT-116	colon:	n/a
48	chr19:36795950-36796000	NHDF-neo	bronchial:	n/a
49	chr19:36799625-36799675	A549	lung:	n/a
50	chr19:36758564-36758614	GM12891	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF146-1	chr19:36801260-36803563	ENSG00000267053.2
2	lnc-ZNF146-1	chr19:36801260-36803564	ENSG00000267053.2

No data

Variant related genes	Relation type
ENSG00000267053	TF binding region
ENSG00000267053	CpG island

Extended variants
information (count: 1011 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1011 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2972548	chr19:36749804-36749805	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566512167	chr19:36749814-36749815	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs139332680	chr19:36749829-36749830	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs530475295	chr19:36749834-36749835	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs552365145	chr19:36749853-36749854	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs570590225	chr19:36749863-36749864	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs534794847	chr19:36749871-36749872	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs546962737	chr19:36749874-36749875	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs568356101	chr19:36749894-36749895	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs191004512	chr19:36749911-36749912	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs145390448	chr19:36749928-36749929	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs575713426	chr19:36749946-36749947	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs539513010	chr19:36749952-36749953	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs142663001	chr19:36749981-36749982	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs373080525	chr19:36749982-36749983	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs540423497	chr19:36750027-36750028	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs569914481	chr19:36750029-36750030	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs185596753	chr19:36750031-36750032	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs541426825	chr19:36750040-36750041	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs34423559	chr19:36750084-36750085	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs112994279	chr19:36750095-36750096	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs552015702	chr19:36750105-36750106	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs370423173	chr19:36750109-36750110	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs2918331	chr19:36750131-36750132	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs528337795	chr19:36750134-36750135	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs75828600	chr19:36750139-36750140	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs147889717	chr19:36750151-36750152	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs372583219	chr19:36750161-36750162	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs535720953	chr19:36750165-36750166	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs550966800	chr19:36750182-36750183	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs141638000	chr19:36750198-36750199	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs180856360	chr19:36750252-36750253	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs143688758	chr19:36750268-36750269	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs117192986	chr19:36750315-36750316	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs566946836	chr19:36750319-36750320	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs148114506	chr19:36750323-36750324	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs140811312	chr19:36750342-36750343	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs186528510	chr19:36750354-36750355	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs76193520	chr19:36750362-36750363	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs556795331	chr19:36750382-36750383	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs117507418	chr19:36750384-36750385	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs545775401	chr19:36750388-36750389	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs564038339	chr19:36750407-36750408	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs528148239	chr19:36750411-36750412	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs540457837	chr19:36750412-36750413	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs576084213	chr19:36750414-36750415	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs188366768	chr19:36750418-36750419	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs59682270	chr19:36750420-36750421	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs141900894	chr19:36750432-36750433	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs561386105	chr19:36750448-36750449	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	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
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36739600-36756800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr19:36745800-36750600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:36747000-36750000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr19:36748800-36762800	Weak transcription	Right Atrium	heart
5	chr19:36749200-36762800	Weak transcription	Colon Smooth Muscle	Colon
6	chr19:36749200-36764800	Weak transcription	Brain Substantia Nigra	brain
7	chr19:36749400-36762600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:36749400-36764200	Weak transcription	Brain Angular Gyrus	brain
9	chr19:36749600-36750200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:36749600-36757400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:36749600-36762600	Weak transcription	Brain Hippocampus Middle	brain
12	chr19:36749600-36763400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr19:36749800-36757600	Weak transcription	Brain Anterior Caudate	brain
14	chr19:36749800-36760000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr19:36750200-36750400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:36756200-36756800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr19:36756600-36758800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr19:36756800-36757000	Flanking Active TSS	K562	blood
19	chr19:36756800-36757800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:36756800-36757800	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr19:36756800-36758200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr19:36756800-36758200	ZNF genes & repeats	Pancreas	Pancrea
23	chr19:36756800-36758400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:36757000-36757400	Active TSS	Psoas Muscle	Psoas
25	chr19:36757000-36757600	Active TSS	Right Ventricle	heart
26	chr19:36757000-36757800	Active TSS	Muscle Satellite Cultured Cells	--
27	chr19:36757000-36758000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr19:36757000-36758000	Active TSS	Left Ventricle	heart
29	chr19:36757000-36758200	Active TSS	K562	blood
30	chr19:36757000-36758600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
31	chr19:36757000-36758800	ZNF genes & repeats	Gastric	stomach
32	chr19:36757000-36759200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:36757000-36759400	ZNF genes & repeats	Placenta	Placenta
34	chr19:36757200-36759000	ZNF genes & repeats	Brain Germinal Matrix	brain
35	chr19:36757400-36757600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:36757400-36757800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:36757400-36762600	Weak transcription	Psoas Muscle	Psoas
38	chr19:36757600-36758800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
39	chr19:36757600-36759000	Strong transcription	Brain Anterior Caudate	brain
40	chr19:36757600-36762600	Weak transcription	Right Ventricle	heart
41	chr19:36757800-36762800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr19:36758000-36758200	ZNF genes & repeats	Lung	lung
43	chr19:36758000-36759200	ZNF genes & repeats	Fetal Brain Female	brain
44	chr19:36758000-36762800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:36758000-36762800	Weak transcription	Left Ventricle	heart
46	chr19:36758400-36758800	ZNF genes & repeats	Ovary	ovary
47	chr19:36758400-36759000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:36758400-36759000	ZNF genes & repeats	Liver	Liver
49	chr19:36758400-36762600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:36758400-36762800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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