Variant report

Variant	nsv510758
Chromosome Location	chr19:20582093-20595412
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
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	CTCF	chr19:20590456-20590534	GM13977	blood:	n/a	n/a
2	CTCF	chr19:20585240-20585286	Medullo	brain:	n/a	n/a
3	CTCF	chr19:20589166-20589217	LNCaP	prostate:	n/a	n/a
4	CTCF	chr19:20594906-20594960	GM20000	blood:	n/a	n/a
5	FOXA2	chr19:20593759-20594080	A549	lung:	n/a	n/a
6	GABPA	chr19:20586322-20586438	GM12878	blood:	n/a	n/a
7	MYBL2	chr19:20587363-20587738	HepG2	liver:	n/a	n/a
8	NR2F2	chr19:20587112-20587596	K562	blood:	n/a	n/a
9	NR2F2	chr19:20587229-20587438	K562	blood:	n/a	n/a
10	POLR2A	chr19:20594606-20597911	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr19:20586326-20586432	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:20595292-20595597	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr19:20594986-20595217	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr19:20595317-20595436	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr19:20594946-20595603	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:20585206-20585256	AG04450	lung:	fetal
2	chr19:20585212-20585262	NH-A	brain:	n/a
3	chr19:20585212-20585262	SK-N-MC	brain:	n/a
4	chr19:20585206-20585256	NH-A	brain:	n/a
5	chr19:20585212-20585262	HUVEC	blood vessel:	n/a
6	chr19:20585212-20585262	HL-60	blood:	n/a
7	chr19:20585206-20585256	K562	blood:	n/a
8	chr19:20585206-20585256	LNCaP	prostate:	n/a
9	chr19:20585212-20585262	AG09319	gingival:	n/a
10	chr19:20585212-20585262	T-47D	breast:	n/a
11	chr19:20585212-20585262	AG09309	skin:	n/a
12	chr19:20585206-20585256	HCPEpiC	choroid plexus:	n/a
13	chr19:20585212-20585262	GM12892	blood:	n/a
14	chr19:20585206-20585256	HAEpiC	amniotic membrane:	n/a
15	chr19:20585206-20585256	SKMC	muscle:	n/a
16	chr19:20585206-20585256	T-47D	breast:	n/a
17	chr19:20585212-20585262	SK-N-SH	brain:	n/a
18	chr19:20585212-20585262	HRCEpiC	kidney:	n/a
19	chr19:20585206-20585256	SK-N-SH	brain:	n/a
20	chr19:20585206-20585256	AoSMC	blood vessel:	n/a
21	chr19:20585212-20585262	BJ	skin:	n/a
22	chr19:20585212-20585262	GM12891	blood:	n/a
23	chr19:20585206-20585256	HRCEpiC	kidney:	n/a
24	chr19:20585212-20585262	NB4	blood:	n/a
25	chr19:20585212-20585262	H1-hESC	embryonic stem cell:	embryo
26	chr19:20585212-20585262	SAEC	small airway:	n/a
27	chr19:20585206-20585256	HPAEpiC	pulmonary alveolar:	n/a
28	chr19:20585212-20585262	BE2_C	brain:	n/a
29	chr19:20585206-20585256	Hepatocyte	liver:	n/a
30	chr19:20585212-20585262	NHDF-neo	bronchial:	n/a
31	chr19:20585206-20585256	HCM	heart:	n/a
32	chr19:20585206-20585256	NHBE	bronchial:	n/a
33	chr19:20585206-20585256	RPTEC	kidney:	n/a
34	chr19:20585206-20585256	MCF10A-Er-Src	breast:	n/a
35	chr19:20585212-20585262	NT2-D1	testis:	n/a
36	chr19:20585206-20585256	A549	lung:	n/a
37	chr19:20585212-20585262	HCT-116	colon:	n/a
38	chr19:20585206-20585256	SK-N-MC	brain:	n/a
39	chr19:20585206-20585256	GM12892	blood:	n/a
40	chr19:20585212-20585262	Jurkat	blood:	n/a
41	chr19:20585212-20585262	HCF	heart:	n/a
42	chr19:20585212-20585262	CMK	blood:	n/a
43	chr19:20585206-20585256	IMR90	lung:	fetal
44	chr19:20585206-20585256	BJ	skin:	n/a
45	chr19:20585212-20585262	GM19239	blood:	n/a
46	chr19:20585212-20585262	PrEC	prostate:	n/a
47	chr19:20585206-20585256	SAEC	small airway:	n/a
48	chr19:20585212-20585262	GM06990	blood:	n/a
49	chr19:20585206-20585256	HEK293	kidney:	embryo
50	chr19:20585206-20585256	SK-N-SH_RA	brain:	n/a

No data

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF737-3	chr19:20591750-20591845	NONHSAT063657
2	lnc-ZNF737-3	chr19:20588513-20588955	NONHSAT063657
3	lnc-ZNF737-3	chr19:20591750-20591824	NR_036455
4	lnc-ZNF486-9	chr19:20591746-20591845	NONHSAT063655
5	lnc-ZNF486-9	chr19:20588238-20588951	NONHSAT063655
6	lnc-ZNF737-3	chr19:20591750-20591824	NONHSAT063654

No data

Variant related genes	Relation type
MIR1270-2	TF binding region
ENSG00000269372	TF binding region
ZNF826P	TF binding region
ENSG00000268174	TF binding region
MIR1270-2	CpG island
ENSG00000269372	CpG island
ZNF826P	CpG island
ENSG00000268174	CpG island

Extended variants
information (count: 157 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76538538	chr19:20585207-20585208	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs79543753	chr19:20585249-20585250	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs28441322	chr19:20587429-20587430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56065323	chr19:20587566-20587567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28532776	chr19:20587655-20587656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28565387	chr19:20587729-20587730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58713218	chr19:20587904-20587905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs28787345	chr19:20587962-20587963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587714240	chr19:20588001-20588002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28417609	chr19:20588009-20588010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs587612612	chr19:20588028-20588029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2545945	chr19:20588206-20588207	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
13	rs200656463	chr19:20588289-20588290	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs59168000	chr19:20588481-20588482	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs113980919	chr19:20588528-20588529	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs374506164	chr19:20588672-20588673	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs2545946	chr19:20588912-20588913	Weak transcription	lncRNA	n/a	Overlapped CNVs	mRNA abundance
18	rs2545947	chr19:20588927-20588928	Weak transcription	lncRNA	n/a	Overlapped CNVs	mRNA abundance
19	rs7258093	chr19:20588973-20588974	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
20	rs62109034	chr19:20588979-20588980	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
21	rs113080288	chr19:20588991-20588992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199895862	chr19:20588994-20588995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201227330	chr19:20589015-20589016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77145068	chr19:20589043-20589044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79014882	chr19:20589054-20589055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs587734421	chr19:20589156-20589157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2545950	chr19:20589182-20589183	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
28	rs75387284	chr19:20589292-20589293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367637159	chr19:20589340-20589341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145258547	chr19:20589361-20589362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200530278	chr19:20589364-20589365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2545951	chr19:20589365-20589366	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
33	rs144068807	chr19:20589370-20589371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs58738454	chr19:20589371-20589372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142813222	chr19:20589372-20589373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368203079	chr19:20589427-20589428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201142640	chr19:20589513-20589514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7507228	chr19:20589588-20589589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2701307	chr19:20589758-20589759	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
40	rs111788107	chr19:20589804-20589805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2545955	chr19:20589948-20589949	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
42	rs587613279	chr19:20589958-20589959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146211714	chr19:20590185-20590186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58430679	chr19:20590187-20590188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374410862	chr19:20590209-20590210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587700355	chr19:20590236-20590237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116277947	chr19:20590432-20590433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112123035	chr19:20590563-20590564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115179695	chr19:20590621-20590622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs587752915	chr19:20590672-20590673	Weak transcription	n/a	n/a	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	20841430	CNVD
small cell lung cancer	20016488	CNVD
Autism	19492091	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20587200-20595200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:20587200-20595400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr19:20588200-20595200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr19:20589000-20595800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr19:20593800-20595400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr19:20593800-20595400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr19:20593800-20596200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:20593800-20605200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr19:20594000-20596200	Weak transcription	Dnd41	blood
10	chr19:20594200-20602600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:20594400-20596600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr19:20594600-20596200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr19:20594800-20596200	Weak transcription	Ovary	ovary
14	chr19:20594800-20605600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:20594800-20605600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr19:20595000-20595400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:20595200-20597000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr19:20595200-20597400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr19:20595200-20598200	Weak transcription	Adipose Nuclei	Adipose
20	chr19:20595200-20599200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr19:20595200-20600200	Weak transcription	Thymus	Thymus
22	chr19:20595200-20602400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:20595200-20602800	Weak transcription	Fetal Brain Female	brain
24	chr19:20595200-20605000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr19:20595200-20605600	Weak transcription	Fetal Stomach	stomach
26	chr19:20595400-20595800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr19:20595400-20595800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr19:20595400-20595800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr19:20595400-20596800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:20595400-20596800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:20595400-20597400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr19:20595400-20602400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:20595400-20603800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr19:20595400-20605400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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