Variant report

Variant	nsv965998
Chromosome Location	chr21:15301872-15310168
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr21:15302414-15302611	GM12878	blood:	n/a	chr21:15302548-15302559
2	CTCF	chr21:15302540-15302690	SK-N-SH_RA	brain:	n/a	n/a
3	CTCF	chr21:15302567-15302615	Medullo	brain:	n/a	n/a
4	CTCF	chr21:15302533-15302739	MCF-7	breast:	n/a	n/a
5	CTCF	chr21:15302456-15302656	IMR90	lung:	n/a	n/a
6	CTCF	chr21:15302640-15302790	MCF-7	breast:	n/a	n/a
7	CTCF	chr21:15302640-15302790	NHDF-neo	bronchial:	n/a	n/a
8	CTCF	chr21:15302580-15302730	GM12864	blood:	n/a	n/a
9	CTCF	chr21:15302543-15302631	K562	blood:	n/a	n/a
10	CTCF	chr21:15302510-15302750	MCF-7	breast:	n/a	n/a
11	EBF1	chr21:15309591-15309779	GM12878	blood:	n/a	n/a
12	FOSL2	chr21:15304776-15305115	HepG2	liver:	n/a	n/a
13	FOXA1	chr21:15309897-15310149	HepG2	liver:	n/a	n/a
14	FOXA1	chr21:15302406-15302696	HepG2	liver:	n/a	n/a
15	FOXA1	chr21:15304716-15305122	HepG2	liver:	n/a	n/a
16	FOXA2	chr21:15302530-15302857	A549	lung:	n/a	n/a
17	GATA2	chr21:15309919-15310266	K562	blood:	n/a	n/a
18	JUND	chr21:15304866-15305102	HepG2	liver:	n/a	n/a
19	KAP1	chr21:15308631-15309040	HEK293	kidney:	n/a	n/a
20	NR2F2	chr21:15306584-15306860	K562	blood:	n/a	n/a
21	PAX5	chr21:15302622-15302860	GM12878	blood:	n/a	n/a
22	POLR2A	chr21:15309628-15309828	A549	lung:	n/a	n/a
23	POLR2A	chr21:15302095-15302285	K562	blood:	n/a	n/a
24	POLR2A	chr21:15309652-15309797	A549	lung:	n/a	n/a
25	POLR2A	chr21:15309655-15309769	A549	lung:	n/a	n/a
26	POLR2A	chr21:15309592-15309726	MCF-7	breast:	n/a	n/a
27	POLR2A	chr21:15304990-15305057	K562	blood:	n/a	n/a
28	POLR2A	chr21:15302782-15302806	Gliobla	brain:	n/a	n/a
29	POLR2A	chr21:15302750-15302768	Gliobla	brain:	n/a	n/a
30	POLR2A	chr21:15309578-15309731	Gliobla	brain:	n/a	n/a
31	POLR2A	chr21:15309632-15309768	A549	lung:	n/a	n/a
32	POLR2A	chr21:15309653-15309762	HepG2	liver:	n/a	n/a
33	POLR2A	chr21:15309635-15309769	HepG2	liver:	n/a	n/a
34	SETDB1	chr21:15308773-15309117	U2OS	brain:	n/a	n/a
35	SIX5	chr21:15302539-15302800	K562	blood:	n/a	n/a
36	SP1	chr21:15304764-15305111	HepG2	liver:	n/a	n/a
37	SPI1	chr21:15306298-15306487	GM12878	blood:	n/a	n/a
38	STAT3	chr21:15302364-15302365	MCF10A-Er-Src	breast:	n/a	n/a
39	ZNF263	chr21:15309573-15309839	HEK293-T-REx	kidney:	n/a	n/a
40	ZNF263	chr21:15307761-15309326	HEK293-T-REx	kidney:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:15307662-15307712	MCF-7	breast:	n/a
2	chr21:15309846-15309896	HUVEC	blood vessel:	n/a
3	chr21:15309634-15309684	HCPEpiC	choroid plexus:	n/a
4	chr21:15307662-15307712	K562	blood:	n/a
5	chr21:15309634-15309684	GM12878	blood:	n/a
6	chr21:15309846-15309896	HCPEpiC	choroid plexus:	n/a
7	chr21:15309846-15309896	HRCEpiC	kidney:	n/a
8	chr21:15309634-15309684	SK-N-MC	brain:	n/a
9	chr21:15309724-15309774	AG04450	lung:	fetal
10	chr21:15309846-15309896	GM12878	blood:	n/a
11	chr21:15309846-15309896	CMK	blood:	n/a
12	chr21:15307662-15307712	AG09319	gingival:	n/a
13	chr21:15309634-15309684	IMR90	lung:	fetal
14	chr21:15309724-15309774	ovcar-3	ovarian:	n/a
15	chr21:15309724-15309774	GM12891	blood:	n/a
16	chr21:15307662-15307712	HEK293	kidney:	embryo
17	chr21:15307662-15307712	PrEC	prostate:	n/a
18	chr21:15309724-15309774	ECC-1	luminal epithelium:	n/a
19	chr21:15309724-15309774	GM19239	blood:	n/a
20	chr21:15309634-15309684	HCF	heart:	n/a
21	chr21:15309724-15309774	HEEpiC	esophagus:	n/a
22	chr21:15309846-15309896	Jurkat	blood:	n/a
23	chr21:15309724-15309774	H1-hESC	embryonic stem cell:	embryo
24	chr21:15309724-15309774	HRPEpiC	eye:	n/a
25	chr21:15309634-15309684	SKMC	muscle:	n/a
26	chr21:15309634-15309684	AG09309	skin:	n/a
27	chr21:15309846-15309896	GM06990	blood:	n/a
28	chr21:15309846-15309896	GM12892	blood:	n/a
29	chr21:15309634-15309684	PANC-1	pancreas:	n/a
30	chr21:15309634-15309684	AG09319	gingival:	n/a
31	chr21:15307662-15307712	PFSK-1	brain:	n/a
32	chr21:15307662-15307712	AG09309	skin:	n/a
33	chr21:15307662-15307712	NH-A	brain:	n/a
34	chr21:15307662-15307712	H1-hESC	embryonic stem cell:	embryo
35	chr21:15309634-15309684	PrEC	prostate:	n/a
36	chr21:15309846-15309896	SK-N-SH	brain:	n/a
37	chr21:15309724-15309774	HCM	heart:	n/a
38	chr21:15309846-15309896	HMEC	breast:	n/a
39	chr21:15307662-15307712	A549	lung:	n/a
40	chr21:15309846-15309896	HEEpiC	esophagus:	n/a
41	chr21:15309634-15309684	RPTEC	kidney:	n/a
42	chr21:15309724-15309774	Hela-S3	cervix:	n/a
43	chr21:15309634-15309684	ECC-1	luminal epithelium:	n/a
44	chr21:15309634-15309684	ovcar-3	ovarian:	n/a
45	chr21:15309724-15309774	MCF10A-Er-Src	breast:	n/a
46	chr21:15309634-15309684	HNPCEpiC	eye:	n/a
47	chr21:15309846-15309896	HPAEpiC	pulmonary alveolar:	n/a
48	chr21:15309846-15309896	GM12891	blood:	n/a
49	chr21:15307662-15307712	U87	brain:	n/a
50	chr21:15309846-15309896	AG04450	lung:	fetal

No data

Variant related genes	Relation type
RHOT1P2	TF binding region
ANKRD20A11P	TF binding region
RHOT1P2	CpG island
ANKRD20A11P	CpG island

Extended variants
information (count: 613 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:613 , 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	rs536153145	chr21:15301896-15301897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536583602	chr21:15301913-15301914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569191134	chr21:15301953-15301954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556371633	chr21:15301964-15301965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147887972	chr21:15301984-15301985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576276135	chr21:15301989-15301990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545233069	chr21:15301993-15301994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558576871	chr21:15302002-15302003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188083255	chr21:15302007-15302008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541013174	chr21:15302049-15302050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111909698	chr21:15302059-15302060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149394003	chr21:15302105-15302106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568216885	chr21:15302123-15302124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543682959	chr21:15302147-15302148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180712873	chr21:15302154-15302155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376752287	chr21:15302166-15302167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369798139	chr21:15302167-15302168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77657555	chr21:15302168-15302169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs397705267	chr21:15302192-15302193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532525268	chr21:15302279-15302280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552496779	chr21:15302311-15302312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566160193	chr21:15302316-15302317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146254514	chr21:15302320-15302321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2822264	chr21:15302333-15302334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548549176	chr21:15302339-15302340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566755375	chr21:15302351-15302352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145659353	chr21:15302374-15302375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74679769	chr21:15302409-15302410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78730569	chr21:15302431-15302432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76160136	chr21:15302461-15302462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185174133	chr21:15302494-15302495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141053684	chr21:15302499-15302500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3119541	chr21:15302535-15302536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs146453949	chr21:15302538-15302539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371639886	chr21:15302559-15302560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71330017	chr21:15302598-15302599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373930504	chr21:15302599-15302600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191249572	chr21:15302600-15302601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35266775	chr21:15302604-15302605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572089654	chr21:15302609-15302610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534446478	chr21:15302654-15302655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554669077	chr21:15302665-15302666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35499521	chr21:15302670-15302671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183051464	chr21:15302673-15302674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9977458	chr21:15302686-15302687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs563595258	chr21:15302702-15302703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186937066	chr21:15302703-15302704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75624777	chr21:15302707-15302708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144663591	chr21:15302718-15302719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373054	chr21:15302724-15302725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
T-cell lymphomas	19863542	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15296200-15307200	Weak transcription	Dnd41	blood
2	chr21:15301600-15308400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr21:15306000-15307400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:15307200-15307400	ZNF genes & repeats	Dnd41	blood
5	chr21:15307200-15309800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:15307200-15309800	ZNF genes & repeats	Esophagus	oesophagus
7	chr21:15307400-15308000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr21:15307400-15309200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:15307600-15309200	ZNF genes & repeats	Thymus	Thymus
10	chr21:15307800-15308600	ZNF genes & repeats	Brain Anterior Caudate	brain
11	chr21:15307800-15309800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr21:15308000-15309800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr21:15308200-15309000	ZNF genes & repeats	Spleen	Spleen
14	chr21:15308400-15309000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chr21:15308400-15309800	ZNF genes & repeats	Dnd41	blood
16	chr21:15308600-15309200	ZNF genes & repeats	Colonic Mucosa	Colon
17	chr21:15308600-15311200	Weak transcription	Brain Anterior Caudate	brain
18	chr21:15309000-15312600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr21:15309000-15314000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr21:15309200-15310000	Weak transcription	Colonic Mucosa	Colon
21	chr21:15309200-15311000	Weak transcription	Thymus	Thymus
22	chr21:15309800-15310400	Strong transcription	Dnd41	blood
23	chr21:15309800-15311200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:15309800-15311400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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