Variant report

Variant	nsv946504
Chromosome Location	chr1:171652643-171653781
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:171653118-171653351	K562	blood:	n/a	n/a
2	CUX1	chr1:171653114-171653222	K562	blood:	n/a	n/a
3	EP300	chr1:171653131-171653242	K562	blood:	n/a	n/a
4	FOSL2	chr1:171653346-171653581	HepG2	liver:	n/a	n/a
5	GATA1	chr1:171652830-171653609	PBDE	blood:	n/a	n/a
6	GATA2	chr1:171652992-171653306	K562	blood:	n/a	n/a
7	HEY1	chr1:171653367-171653607	K562	blood:	n/a	n/a
8	HEY1	chr1:171653395-171653554	HepG2	liver:	n/a	n/a
9	JUND	chr1:171653396-171653567	HepG2	liver:	n/a	n/a
10	NR2F2	chr1:171652961-171653335	K562	blood:	n/a	n/a
11	POLR2A	chr1:171653390-171653546	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr1:171653275-171653609	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr1:171653328-171653596	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:171653495-171653528	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:171653353-171653559	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr1:171653277-171653605	GM12878	blood:	n/a	n/a
17	SIN3AK20	chr1:171653392-171653498	HepG2	liver:	n/a	n/a
18	SPI1	chr1:171653005-171653214	K562	blood:	n/a	n/a
19	TAL1	chr1:171653023-171653345	K562	blood:	n/a	n/a
20	TEAD4	chr1:171652999-171653268	K562	blood:	n/a	n/a
21	TEAD4	chr1:171652969-171653399	K562	blood:	n/a	n/a
22	ZBTB33	chr1:171653302-171653651	K562	blood:	n/a	n/a
23	ZMIZ1	chr1:171653164-171653172	K562	blood:	n/a	n/a
24	ZNF143	chr1:171653145-171653182	K562	blood:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VAMP4-4	chr1:171653555-171654384	NONHSAT007576

No data

Variant related genes	Relation type
RPL4P3	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561524444	chr1:171652645-171652646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375938918	chr1:171652646-171652647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9661596	chr1:171652664-171652665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs548297353	chr1:171652672-171652673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115565507	chr1:171652675-171652676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530818248	chr1:171652698-171652699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61023977	chr1:171652701-171652702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs181292470	chr1:171652714-171652715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59070139	chr1:171652719-171652720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs9662853	chr1:171652731-171652732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs10913484	chr1:171652753-171652754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11811780	chr1:171652759-171652760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs565753992	chr1:171652774-171652775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12044749	chr1:171652805-171652806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575371730	chr1:171652921-171652922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11799420	chr1:171652978-171652979	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs557733312	chr1:171652980-171652981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573083847	chr1:171653006-171653007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370015344	chr1:171653014-171653015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538620622	chr1:171653036-171653037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540506017	chr1:171653071-171653072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147794540	chr1:171653115-171653116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529056681	chr1:171653170-171653171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10913488	chr1:171653207-171653208	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs536961579	chr1:171653208-171653209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563481079	chr1:171653219-171653220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557215360	chr1:171653223-171653224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531868399	chr1:171653230-171653231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531029445	chr1:171653238-171653239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573792928	chr1:171653248-171653249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552314321	chr1:171653249-171653250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201030275	chr1:171653264-171653265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564487893	chr1:171653293-171653294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528443659	chr1:171653321-171653322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs151197926	chr1:171653328-171653329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12095503	chr1:171653329-171653330	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs185599190	chr1:171653372-171653373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551187622	chr1:171653378-171653379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10913489	chr1:171653384-171653385	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs140160605	chr1:171653400-171653401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10913490	chr1:171653401-171653402	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs541502108	chr1:171653458-171653459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548072842	chr1:171653462-171653463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567822751	chr1:171653464-171653465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572816896	chr1:171653481-171653482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533507651	chr1:171653552-171653553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555251305	chr1:171653553-171653554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573589061	chr1:171653565-171653566	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs544047168	chr1:171653566-171653567	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs10913492	chr1:171653599-171653600	Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171647800-171652800	Weak transcription	K562	blood
2	chr1:171652800-171653600	Enhancers	K562	blood
3	chr1:171653000-171653400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:171653000-171654200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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