Variant report

Variant	nsv983535
Chromosome Location	chr13:90487010-90497059
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr13:90493756-90494221	K562	blood:	n/a	n/a
2	BACH1	chr13:90488380-90488753	K562	blood:	n/a	n/a
3	CEBPB	chr13:90493375-90493381	K562	blood:	n/a	n/a
4	CHD2	chr13:90493411-90493459	K562	blood:	n/a	n/a
5	CTCF	chr13:90489380-90489530	AoAF	blood vessel:	n/a	n/a
6	CTCF	chr13:90493287-90493329	K562	blood:	n/a	n/a
7	CTCF	chr13:90487535-90487618	H1-hESC	embryonic stem cell:	n/a	n/a
8	CUX1	chr13:90494456-90494754	K562	blood:	n/a	n/a
9	CUX1	chr13:90495848-90496230	K562	blood:	n/a	n/a
10	EP300	chr13:90489167-90489319	GM12878	blood:	n/a	n/a
11	EP300	chr13:90487899-90488202	GM12878	blood:	n/a	n/a
12	EP300	chr13:90495144-90495180	GM12878	blood:	n/a	n/a
13	EP300	chr13:90493024-90493194	GM12878	blood:	n/a	n/a
14	EP300	chr13:90494026-90494649	K562	blood:	n/a	n/a
15	EP300	chr13:90493474-90493478	K562	blood:	n/a	n/a
16	EP300	chr13:90494624-90494687	GM12878	blood:	n/a	n/a
17	FAM48A	chr13:90494094-90494215	GM12878	blood:	n/a	n/a
18	FOXA1	chr13:90493702-90493960	T-47D	breast:	n/a	n/a
19	FOXA1	chr13:90493749-90494119	T-47D	breast:	n/a	n/a
20	GATA3	chr13:90493681-90494097	T-47D	breast:	n/a	n/a
21	GATA3	chr13:90493692-90494156	T-47D	breast:	n/a	n/a
22	IRF1	chr13:90492599-90492604	K562	blood:	n/a	n/a
23	IRF1	chr13:90497018-90497227	K562	blood:	n/a	n/a
24	IRF1	chr13:90493389-90493680	K562	blood:	n/a	n/a
25	IRF1	chr13:90494137-90494638	K562	blood:	n/a	n/a
26	JUN	chr13:90495742-90496217	K562	blood:	n/a	n/a
27	JUND	chr13:90493281-90493343	K562	blood:	n/a	n/a
28	KAP1	chr13:90492693-90493512	K562	blood:	n/a	n/a
29	KAP1	chr13:90487753-90488263	K562	blood:	n/a	n/a
30	KAP1	chr13:90494749-90496340	K562	blood:	n/a	n/a
31	MXI1	chr13:90488341-90488657	K562	blood:	n/a	n/a
32	MXI1	chr13:90495564-90495817	K562	blood:	n/a	n/a
33	POLR2A	chr13:90489085-90489210	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr13:90492361-90492530	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr13:90495445-90495629	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr13:90488127-90488327	MCF10A-Er-Src	breast:	n/a	n/a
37	RCOR1	chr13:90488605-90488791	K562	blood:	n/a	n/a
38	RFX5	chr13:90495503-90496171	K562	blood:	n/a	n/a
39	RFX5	chr13:90497050-90497702	K562	blood:	n/a	n/a
40	RFX5	chr13:90494013-90494399	K562	blood:	n/a	n/a
41	STAT3	chr13:90488372-90488587	MCF10A-Er-Src	breast:	n/a	n/a
42	TBL1XR1	chr13:90494110-90494618	K562	blood:	n/a	n/a
43	UBTF	chr13:90494556-90494579	K562	blood:	n/a	n/a
44	UBTF	chr13:90496043-90496247	K562	blood:	n/a	n/a
45	UBTF	chr13:90494653-90494701	K562	blood:	n/a	n/a
46	ZC3H11A	chr13:90488453-90488553	K562	blood:	n/a	n/a
47	ZMIZ1	chr13:90495676-90495825	K562	blood:	n/a	n/a
48	ZMIZ1	chr13:90488573-90488621	K562	blood:	n/a	n/a
49	ZNF143	chr13:90493364-90493449	K562	blood:	n/a	n/a
50	ZNF274	chr13:90496935-90497425	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:90494528..90497292-chr13:90501979..90504191,2	K562	blood:

No data

Variant related genes	Relation type
RPL7L1P1	TF binding region
ENSG00000200733	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576561222	chr13:90487550-90487551	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs1475804	chr13:90487551-90487552	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs188710410	chr13:90487566-90487567	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs575434845	chr13:90487574-90487575	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs548180729	chr13:90487759-90487760	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs566794235	chr13:90487799-90487800	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs558704879	chr13:90487810-90487811	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs551718805	chr13:90487830-90487831	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs570119695	chr13:90487831-90487832	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs549850066	chr13:90487832-90487833	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs369302373	chr13:90487834-90487835	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs555614325	chr13:90487855-90487856	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs537498821	chr13:90487869-90487870	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs555885222	chr13:90487901-90487902	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs575422667	chr13:90487903-90487904	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs9588772	chr13:90487908-90487909	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs543324010	chr13:90487966-90487967	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs368598660	chr13:90487991-90487992	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs16943449	chr13:90488078-90488079	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs75127952	chr13:90488086-90488087	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs547712048	chr13:90488135-90488136	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs17550649	chr13:90488252-90488253	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs188531071	chr13:90488256-90488257	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs540585841	chr13:90488259-90488260	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs528088605	chr13:90488261-90488262	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs565239971	chr13:90488266-90488267	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs138978054	chr13:90488346-90488347	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs79796889	chr13:90488348-90488349	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs72634301	chr13:90488402-90488403	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs144861961	chr13:90488408-90488409	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs548395887	chr13:90488412-90488413	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs182479753	chr13:90488424-90488425	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs368667851	chr13:90488455-90488456	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs1889719	chr13:90488481-90488482	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs570107521	chr13:90488488-90488489	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs9555947	chr13:90488549-90488550	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs187054120	chr13:90488559-90488560	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs568183725	chr13:90488585-90488586	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs535212892	chr13:90488620-90488621	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs555117486	chr13:90488663-90488664	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs200857645	chr13:90488675-90488676	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs534453645	chr13:90488696-90488697	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs79964722	chr13:90488737-90488738	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs146250923	chr13:90489126-90489127	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs528936434	chr13:90489215-90489216	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs55882055	chr13:90489267-90489268	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs547184430	chr13:90489304-90489305	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs9522759	chr13:90489316-90489317	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs373336756	chr13:90489497-90489498	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs138005996	chr13:90489509-90489510	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:90492000-90492400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:90492000-90492400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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