Variant report

Variant	nsv1063699
Chromosome Location	chr19:21964257-21986302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:21973969-21974182	K562	blood:	n/a	n/a
2	CEBPB	chr19:21975095-21975219	HepG2	liver:	n/a	n/a
3	CTCF	chr19:21973971-21974004	LNCaP	prostate:	n/a	n/a
4	CTCF	chr19:21971440-21971590	GM12869	blood:	n/a	n/a
5	CTCF	chr19:21973859-21974167	K562	blood:	n/a	n/a
6	CTCF	chr19:21973940-21974090	AG09309	skin:	n/a	n/a
7	CTCF	chr19:21973842-21974144	GM12878	blood:	n/a	n/a
8	CTCF	chr19:21976774-21976847	GM13976	blood:	n/a	n/a
9	CTCF	chr19:21973923-21974076	K562	blood:	n/a	n/a
10	CTCF	chr19:21974020-21974170	BE2_C	brain:	n/a	n/a
11	CTCF	chr19:21974021-21974050	GM12878	blood:	n/a	n/a
12	CTCF	chr19:21973900-21974050	MCF-7	breast:	n/a	n/a
13	CTCF	chr19:21974007-21974037	LNCaP	prostate:	n/a	n/a
14	CTCF	chr19:21984107-21984157	Fibrobl	skin:	n/a	n/a
15	FOXA1	chr19:21972391-21972698	T-47D	breast:	n/a	n/a
16	FOXA1	chr19:21972665-21972843	T-47D	breast:	n/a	n/a
17	GATA3	chr19:21972275-21972835	T-47D	breast:	n/a	n/a
18	GATA3	chr19:21972406-21973101	MCF-7	breast:	n/a	n/a
19	GATA3	chr19:21970049-21970302	T-47D	breast:	n/a	n/a
20	GATA3	chr19:21972269-21972889	T-47D	breast:	n/a	n/a
21	GATA3	chr19:21972501-21972913	MCF-7	breast:	n/a	n/a
22	MAFF	chr19:21965098-21965286	HepG2	liver:	n/a	chr19:21965196-21965210 chr19:21965190-21965208
23	MAFK	chr19:21965048-21965341	HepG2	liver:	n/a	chr19:21965197-21965207 chr19:21965192-21965207 chr19:21965197-21965206
24	MAFK	chr19:21965189-21965215	HepG2	liver:	n/a	chr19:21965197-21965207 chr19:21965192-21965207 chr19:21965197-21965206
25	MAFK	chr19:21973583-21973842	HepG2	liver:	n/a	chr19:21973740-21973755
26	MAFK	chr19:21973673-21973778	HepG2	liver:	n/a	chr19:21973740-21973755
27	MYC	chr19:21974110-21974111	K562	blood:	n/a	n/a
28	MYC	chr19:21985796-21985853	NB4	blood:	n/a	n/a
29	MYC	chr19:21983805-21983810	NB4	blood:	n/a	n/a
30	NFIC	chr19:21979807-21980132	HepG2	liver:	n/a	n/a
31	PAX5	chr19:21969812-21970014	GM12878	blood:	n/a	n/a
32	POLR2A	chr19:21985467-21985501	MCF-7	breast:	n/a	n/a
33	POLR2A	chr19:21985960-21986326	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr19:21985824-21985875	GM12878	blood:	n/a	n/a
35	POLR2A	chr19:21983239-21983388	MCF-7	breast:	n/a	n/a
36	POLR2A	chr19:21983585-21983819	ProgFib	skin:	n/a	n/a
37	POLR2A	chr19:21985274-21986409	PFSK-1	brain:	n/a	n/a
38	POLR2A	chr19:21986023-21986320	MCF-7	breast:	n/a	n/a
39	POLR2A	chr19:21983169-21983482	MCF-7	breast:	n/a	n/a
40	POLR2A	chr19:21973581-21973878	SK-N-MC	brain:	n/a	n/a
41	POLR2A	chr19:21985940-21986306	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr19:21986037-21986235	GM12891	blood:	n/a	n/a
43	POLR2A	chr19:21985814-21986462	PANC-1	pancreas:	n/a	n/a
44	POLR2A	chr19:21984009-21984029	ProgFib	skin:	n/a	n/a
45	POLR2A	chr19:21986123-21986390	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr19:21985502-21985503	MCF-7	breast:	n/a	n/a
47	POLR2A	chr19:21985949-21986387	K562	blood:	n/a	n/a
48	POLR2A	chr19:21985937-21986333	SK-N-MC	brain:	n/a	n/a
49	POLR2A	chr19:21985783-21986498	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr19:21984038-21984161	ProgFib	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:56708299..56708986-chr19:21963790..21964481,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF100-5	chr19:21976319-21976662	ENSG00000268184.1
2	lnc-ZNF257-7	chr19:21983282-21984068	NONHSAT063745
3	lnc-ZNF100-5	chr19:21971682-21971902	ENSG00000268184.1
4	lnc-ZNF100-5	chr19:21976319-21976433	ENSG00000268184.1

No data

Variant related genes	Relation type
ENSG00000268184	TF binding region
ENSG00000269136	TF binding region

Extended variants
information (count: 203 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:203 , 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	rs147561549	chr19:21971641-21971642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540062292	chr19:21971651-21971652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187371299	chr19:21971662-21971663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192337303	chr19:21971674-21971675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552749756	chr19:21971761-21971762	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs73929047	chr19:21971775-21971776	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs141048005	chr19:21971795-21971796	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs34472130	chr19:21971796-21971797	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs184759254	chr19:21971798-21971799	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs570036086	chr19:21971853-21971854	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs142448528	chr19:21971860-21971861	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs533000774	chr19:21971984-21971985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376349316	chr19:21972077-21972078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2102539	chr19:21972084-21972085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569846973	chr19:21972095-21972096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140537221	chr19:21972109-21972110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188037301	chr19:21972149-21972150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150430144	chr19:21972159-21972160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192461872	chr19:21972170-21972171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554930016	chr19:21972178-21972179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553215558	chr19:21972219-21972220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369837140	chr19:21972420-21972421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578021747	chr19:21972448-21972449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545153856	chr19:21972470-21972471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557558153	chr19:21972493-21972494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184853451	chr19:21972554-21972555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548441682	chr19:21972561-21972562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561204824	chr19:21972638-21972639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200740322	chr19:21972703-21972704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs202042195	chr19:21972715-21972716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145028035	chr19:21972718-21972719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540992646	chr19:21972730-21972731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs199888445	chr19:21972743-21972744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559070920	chr19:21972813-21972814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189781097	chr19:21972815-21972816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544177610	chr19:21972938-21972939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551185770	chr19:21972971-21972972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375640587	chr19:21972978-21972979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564446605	chr19:21973049-21973050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530685841	chr19:21973072-21973073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549303717	chr19:21973089-21973090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567541450	chr19:21973123-21973124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534726305	chr19:21973133-21973134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12460998	chr19:21973146-21973147	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs10426205	chr19:21973161-21973162	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs12463314	chr19:21973178-21973179	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs557023586	chr19:21973206-21973207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373323401	chr19:21973229-21973230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536401221	chr19:21973284-21973285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181386278	chr19:21973375-21973376	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

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
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21971600-21972400	Enhancers	Fetal Intestine Large	intestine
2	chr19:21972400-21973200	Weak transcription	Fetal Intestine Large	intestine
3	chr19:21972400-21973200	Enhancers	Fetal Kidney	kidney
4	chr19:21973200-21973400	Enhancers	Fetal Intestine Large	intestine
5	chr19:21983200-21983400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:21983200-21983800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:21983400-21987000	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr19:21985400-22003000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr19:21985600-21986000	Enhancers	Brain Anterior Caudate	brain
10	chr19:21985600-22011000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr19:21985800-21987400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:21986000-21986200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:21986000-21986200	Enhancers	Fetal Brain Male	brain
14	chr19:21986200-21986800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr19:21986200-21998800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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