Variant report

Variant	nsv962690
Chromosome Location	chr21:15310168-15314009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr21:15310719-15310867	GM12878	blood:	n/a	n/a
2	GATA2	chr21:15309919-15310266	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:15311594-15311644	LNCaP	prostate:	n/a
2	chr21:15311594-15311644	AG04449	skin:	fetal
3	chr21:15311594-15311644	HUVEC	blood vessel:	n/a
4	chr21:15311594-15311644	HMEC	breast:	n/a
5	chr21:15311594-15311644	AG04450	lung:	fetal
6	chr21:15311594-15311644	HAEpiC	amniotic membrane:	n/a
7	chr21:15311594-15311644	ECC-1	luminal epithelium:	n/a
8	chr21:15311594-15311644	GM19239	blood:	n/a
9	chr21:15311594-15311644	MCF-7	breast:	n/a
10	chr21:15311594-15311644	PFSK-1	brain:	n/a
11	chr21:15311594-15311644	Caco-2	colon:	n/a
12	chr21:15311594-15311644	BE2_C	brain:	n/a
13	chr21:15311594-15311644	GM12892	blood:	n/a
14	chr21:15311594-15311644	H1-hESC	embryonic stem cell:	embryo
15	chr21:15311594-15311644	ProgFib	skin:	n/a
16	chr21:15311594-15311644	HPAEpiC	pulmonary alveolar:	n/a
17	chr21:15311594-15311644	Hepatocyte	liver:	n/a
18	chr21:15311594-15311644	SK-N-SH_RA	brain:	n/a
19	chr21:15311594-15311644	SK-N-MC	brain:	n/a
20	chr21:15311594-15311644	GM12878	blood:	n/a
21	chr21:15311594-15311644	NB4	blood:	n/a
22	chr21:15311594-15311644	T-47D	breast:	n/a
23	chr21:15311594-15311644	NHBE	bronchial:	n/a
24	chr21:15311594-15311644	Jurkat	blood:	n/a
25	chr21:15311594-15311644	AG09309	skin:	n/a
26	chr21:15311594-15311644	CMK	blood:	n/a
27	chr21:15311594-15311644	NT2-D1	testis:	n/a
28	chr21:15311594-15311644	PANC-1	pancreas:	n/a
29	chr21:15311594-15311644	PrEC	prostate:	n/a
30	chr21:15311594-15311644	HIPEpiC	eye:	n/a
31	chr21:15311594-15311644	HCT-116	colon:	n/a
32	chr21:15311594-15311644	GM12891	blood:	n/a
33	chr21:15311594-15311644	AG10803	skin:	n/a
34	chr21:15311594-15311644	HCM	heart:	n/a
35	chr21:15311594-15311644	HRCEpiC	kidney:	n/a
36	chr21:15311594-15311644	NHDF-neo	bronchial:	n/a
37	chr21:15311594-15311644	HCF	heart:	n/a
38	chr21:15311594-15311644	SKMC	muscle:	n/a
39	chr21:15311594-15311644	AG09319	gingival:	n/a
40	chr21:15311594-15311644	HepG2	liver:	n/a
41	chr21:15311594-15311644	HRPEpiC	eye:	n/a
42	chr21:15311594-15311644	HL-60	blood:	n/a
43	chr21:15311594-15311644	BJ	skin:	n/a
44	chr21:15311594-15311644	RPTEC	kidney:	n/a
45	chr21:15311594-15311644	HNPCEpiC	eye:	n/a
46	chr21:15311594-15311644	HEK293	kidney:	embryo
47	chr21:15311594-15311644	Hela-S3	cervix:	n/a
48	chr21:15311594-15311644	AoSMC	blood vessel:	n/a
49	chr21:15311594-15311644	HCPEpiC	choroid plexus:	n/a
50	chr21:15311594-15311644	K562	blood:	n/a

No data

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LIPI-4	chr21:15310267-15310388	NONHSAT081131
2	lnc-LIPI-4	chr21:15311567-15311749	NONHSAT081131
3	lnc-LIPI-4	chr21:15313136-15313299	NONHSAT081132
4	lnc-LIPI-4	chr21:15311695-15311749	NONHSAT081132
5	lnc-LIPI-4	chr21:15313136-15313299	NONHSAT081131

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: 321 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2276178	chr21:15310168-15310169	Weak transcription Strong transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542163700	chr21:15310185-15310186	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs557757441	chr21:15310212-15310213	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs73894321	chr21:15310239-15310240	Weak transcription Strong transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs545660064	chr21:15310243-15310244	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs552859060	chr21:15310279-15310280	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs34786723	chr21:15310297-15310298	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs113622018	chr21:15310302-15310303	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs8175301	chr21:15310315-15310316	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs572654906	chr21:15310344-15310345	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs432543	chr21:15310354-15310355	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs189002760	chr21:15310356-15310357	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs36074308	chr21:15310367-15310368	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs530557395	chr21:15310378-15310379	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs13052309	chr21:15310398-15310399	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs76046366	chr21:15310400-15310401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34146536	chr21:15310402-15310403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34031013	chr21:15310464-15310465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544175295	chr21:15310474-15310475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs395993	chr21:15310477-15310478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373138193	chr21:15310480-15310481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532966117	chr21:15310491-15310492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201079405	chr21:15310520-15310521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201997656	chr21:15310534-15310535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200452812	chr21:15310536-15310537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368118143	chr21:15310571-15310572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181516494	chr21:15310573-15310574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567216425	chr21:15310578-15310579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141290278	chr21:15310580-15310581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35065537	chr21:15310583-15310584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529477387	chr21:15310610-15310611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34316013	chr21:15310618-15310619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377478764	chr21:15310624-15310625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371219730	chr21:15310625-15310626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549345388	chr21:15310657-15310658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146952828	chr21:15310695-15310696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569312489	chr21:15310704-15310705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34075932	chr21:15310721-15310722	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs34106252	chr21:15310726-15310727	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs34249879	chr21:15310744-15310745	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs150487044	chr21:15310747-15310748	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs202039786	chr21:15310753-15310754	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs34679662	chr21:15310771-15310772	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs200226214	chr21:15310777-15310778	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs557847274	chr21:15310778-15310779	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs201725289	chr21:15310785-15310786	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs187040714	chr21:15310795-15310796	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs62209688	chr21:15310798-15310799	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs377254286	chr21:15310806-15310807	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs552846594	chr21:15310807-15310808	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15308600-15311200	Weak transcription	Brain Anterior Caudate	brain
2	chr21:15309000-15312600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr21:15309000-15314000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr21:15309200-15311000	Weak transcription	Thymus	Thymus
5	chr21:15309800-15310400	Strong transcription	Dnd41	blood
6	chr21:15309800-15311200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:15309800-15311400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr21:15310400-15347400	Weak transcription	Dnd41	blood
9	chr21:15311200-15311400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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