Variant report

Variant	nsv978827
Chromosome Location	chr19:44584843-44590122
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:44585866-44586156	K562	blood:	n/a	n/a
2	CHD2	chr19:44585763-44586137	K562	blood:	n/a	n/a
3	CHD2	chr19:44585900-44585969	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr19:44585987-44585994	K562	blood:	n/a	n/a
5	CTCF	chr19:44585880-44586030	HEK293	kidney:	n/a	n/a
6	CTCF	chr19:44585894-44586095	K562	blood:	n/a	n/a
7	ETS1	chr19:44585846-44586022	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:44588203-44588231	HepG2	liver:	n/a	n/a
9	POLR2A	chr19:44588589-44588591	MCF-7	breast:	n/a	n/a
10	POLR2A	chr19:44588495-44588512	Gliobla	brain:	n/a	n/a
11	POLR2A	chr19:44589296-44589471	K562	blood:	n/a	n/a
12	POLR2A	chr19:44588528-44588588	MCF-7	breast:	n/a	n/a
13	USF2	chr19:44588277-44588384	HepG2	liver:	n/a	n/a
14	ZBTB33	chr19:44585860-44586039	K562	blood:	n/a	n/a
15	ZBTB33	chr19:44585788-44586099	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44583811..44585821-chr19:44587425..44590403,2	MCF-7	breast:
2	chr19:44586751..44589410-chr19:44592560..44594280,2	K562	blood:
3	chr19:44583300..44585614-chr19:44596665..44599577,2	K562	blood:
4	chr19:44589107..44593140-chr19:44596665..44599244,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF224-2	chr19:44586166-44586258	NONHSAT066656
2	lnc-ZNF224-2	chr19:44585235-44585294	NONHSAT066656
3	lnc-ZNF224-2	chr19:44589867-44590327	NONHSAT066656

No data

Variant related genes	Relation type
RNU6-902P	TF binding region
ENSG00000267680	chromatin interactions
ENSG00000253021	chromatin interactions

Extended variants
information (count: 247 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:247 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75533933	chr19:44584960-44584961	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs560955957	chr19:44585055-44585056	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs542751837	chr19:44585075-44585076	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs373474496	chr19:44585125-44585126	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs201568852	chr19:44585137-44585138	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs186757731	chr19:44585146-44585147	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs4803674	chr19:44585159-44585160	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs200780378	chr19:44585166-44585167	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs146524579	chr19:44585194-44585195	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs112064204	chr19:44585206-44585207	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs374025268	chr19:44585210-44585211	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs143278314	chr19:44585231-44585232	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs200592547	chr19:44585240-44585241	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs200252807	chr19:44585249-44585250	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs371364224	chr19:44585252-44585253	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs191621832	chr19:44585253-44585254	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs539001918	chr19:44585287-44585288	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs10407862	chr19:44585297-44585298	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs528881317	chr19:44585323-44585324	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs549127934	chr19:44585447-44585448	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs113433955	chr19:44585479-44585480	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs557815661	chr19:44585499-44585500	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs568944442	chr19:44585533-44585534	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs538449690	chr19:44585553-44585554	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs551641794	chr19:44585560-44585561	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs139189654	chr19:44585592-44585593	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs534269833	chr19:44585596-44585597	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs554032990	chr19:44585598-44585599	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs377140792	chr19:44585602-44585603	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs536222795	chr19:44585640-44585641	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs369632287	chr19:44585646-44585647	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs537252747	chr19:44585652-44585653	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs555557010	chr19:44585653-44585654	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs573804592	chr19:44585660-44585661	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370304297	chr19:44585669-44585670	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs143200149	chr19:44585675-44585676	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560460605	chr19:44585680-44585681	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs80329287	chr19:44585709-44585710	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs370218727	chr19:44585719-44585720	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs540737385	chr19:44585733-44585734	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs553018697	chr19:44585734-44585735	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs185068087	chr19:44585738-44585739	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs548966065	chr19:44585739-44585740	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs562612261	chr19:44585744-44585745	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs147511415	chr19:44585771-44585772	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs551452148	chr19:44585791-44585792	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs577610458	chr19:44585795-44585796	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs544977307	chr19:44585843-44585844	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs11882151	chr19:44585844-44585845	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs369698330	chr19:44585864-44585865	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44577000-44585000	Weak transcription	Pancreas	Pancrea
2	chr19:44577000-44598000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:44577200-44585000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:44577200-44585000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr19:44577200-44585000	Weak transcription	Colonic Mucosa	Colon
6	chr19:44577200-44585000	Weak transcription	Esophagus	oesophagus
7	chr19:44577200-44586200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:44577200-44586200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr19:44577200-44586200	Weak transcription	HUVEC	blood vessel
10	chr19:44577200-44588000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:44577200-44588200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:44577200-44590000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:44577200-44598000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr19:44577400-44585000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr19:44577400-44585000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr19:44577400-44585000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:44577400-44585000	Weak transcription	Small Intestine	intestine
18	chr19:44577400-44585200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr19:44577400-44586200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr19:44577400-44586400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr19:44577400-44589200	Weak transcription	NH-A	brain
22	chr19:44577600-44585000	Weak transcription	Gastric	stomach
23	chr19:44577600-44585000	Weak transcription	Psoas Muscle	Psoas
24	chr19:44577600-44585400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr19:44577600-44586000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr19:44577600-44586000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr19:44577600-44586000	Weak transcription	NHDF-Ad	bronchial
28	chr19:44577600-44586200	Weak transcription	Fetal Brain Male	brain
29	chr19:44577600-44586400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr19:44577600-44587800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr19:44577600-44588400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr19:44577600-44589800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr19:44577600-44597800	Weak transcription	HMEC	breast
34	chr19:44577800-44586400	Weak transcription	NHEK	skin
35	chr19:44577800-44586600	Weak transcription	HepG2	liver
36	chr19:44580600-44591400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr19:44580600-44592400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:44580600-44592600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr19:44580800-44593200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr19:44581000-44591400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:44581000-44591400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr19:44581000-44591800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:44581200-44585000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr19:44581200-44591400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:44581200-44591600	Strong transcription	Dnd41	blood
46	chr19:44581200-44592400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr19:44581200-44593000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:44581400-44591000	Strong transcription	Fetal Intestine Large	intestine
49	chr19:44581600-44586000	Weak transcription	Primary B cells from cord blood	blood
50	chr19:44581600-44586200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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