Variant report

Variant	nsv979181
Chromosome Location	chr2:231432587-231439718
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:231434019-231434263	GM12878	blood:	n/a	chr2:231434114-231434125
2	BCL11A	chr2:231436984-231437184	GM12878	blood:	n/a	n/a
3	CTCF	chr2:231435720-231435870	HCT-116	colon:	n/a	n/a
4	CTCF	chr2:231435900-231436050	GM12873	blood:	n/a	n/a
5	CTCF	chr2:231435880-231436030	GM12873	blood:	n/a	n/a
6	CTCF	chr2:231435800-231435950	GM12874	blood:	n/a	n/a
7	CTCF	chr2:231435840-231435990	GM12871	blood:	n/a	n/a
8	CTCF	chr2:231435780-231435930	GM12872	blood:	n/a	n/a
9	CTCF	chr2:231435840-231435990	HMF	breast:	n/a	n/a
10	CTCF	chr2:231435820-231435970	GM12875	blood:	n/a	n/a
11	CTCF	chr2:231435880-231436030	GM12872	blood:	n/a	n/a
12	CTCF	chr2:231435800-231435950	HEK293	kidney:	n/a	n/a
13	CTCF	chr2:231435800-231435950	HepG2	liver:	n/a	n/a
14	CTCF	chr2:231437087-231437168	LNCaP	prostate:	n/a	n/a
15	CTCF	chr2:231435880-231436030	GM12864	blood:	n/a	n/a
16	CTCF	chr2:231435820-231435970	GM12873	blood:	n/a	n/a
17	CTCF	chr2:231435840-231435990	GM12867	blood:	n/a	n/a
18	CTCF	chr2:231435840-231435990	HCFaa	heart:	n/a	n/a
19	FOXA1	chr2:231436473-231436931	HepG2	liver:	n/a	n/a
20	GABPA	chr2:231438461-231438645	Hela-S3	cervix:	n/a	n/a
21	GATA3	chr2:231437834-231438207	MCF-7	breast:	n/a	n/a
22	HEY1	chr2:231438539-231438674	HepG2	liver:	n/a	n/a
23	HEY1	chr2:231438502-231438678	K562	blood:	n/a	n/a
24	NR2F2	chr2:231437657-231437971	K562	blood:	n/a	n/a
25	PAX5	chr2:231438455-231438650	GM12878	blood:	n/a	n/a
26	POLR2A	chr2:231436574-231437109	GM12878	blood:	n/a	n/a
27	POLR2A	chr2:231437746-231437916	GM12878	blood:	n/a	n/a
28	POLR2A	chr2:231437824-231437860	K562	blood:	n/a	n/a
29	POLR2A	chr2:231438459-231438638	GM12891	blood:	n/a	n/a
30	POLR2A	chr2:231438345-231438860	GM12892	blood:	n/a	n/a
31	POLR2A	chr2:231438331-231438844	GM12878	blood:	n/a	n/a
32	POLR2A	chr2:231438444-231438659	GM12892	blood:	n/a	n/a
33	POLR2A	chr2:231438484-231438654	GM12878	blood:	n/a	n/a
34	POLR2A	chr2:231437816-231438006	GM12878	blood:	n/a	n/a
35	POLR2A	chr2:231438352-231438672	GM12878	blood:	n/a	n/a
36	POLR2A	chr2:231438484-231438698	A549	lung:	n/a	n/a
37	POLR2A	chr2:231436612-231437186	GM12878	blood:	n/a	n/a
38	POLR2A	chr2:231438416-231438636	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr2:231438498-231438595	A549	lung:	n/a	n/a
40	POLR2A	chr2:231437967-231438307	GM12878	blood:	n/a	n/a
41	POLR2A	chr2:231438454-231438631	Hela-S3	cervix:	n/a	n/a
42	POU2F2	chr2:231436907-231437203	GM12878	blood:	n/a	chr2:231437033-231437045 chr2:231437159-231437171
43	RXRA	chr2:231436633-231436812	HepG2	liver:	n/a	chr2:231436681-231436690
44	SETDB1	chr2:231436217-231436476	U2OS	brain:	n/a	n/a
45	TCF12	chr2:231436652-231436836	HepG2	liver:	n/a	n/a
46	ZNF143	chr2:231436314-231436470	H1-hESC	embryonic stem cell:	n/a	n/a
47	ZNF217	chr2:231437907-231438246	MCF-7	breast:	n/a	n/a
48	ZNF384	chr2:231434375-231434453	K562	blood:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SP110-1	chr2:231435355-231435430	ENSG00000235419.1

No data

Variant related genes	Relation type
TPM3P8	TF binding region

Extended variants
information (count: 261 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527317937	chr2:231432612-231432613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187435414	chr2:231432626-231432627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570451782	chr2:231432638-231432639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6754406	chr2:231432639-231432640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549615982	chr2:231432684-231432685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369067890	chr2:231432726-231432727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113400829	chr2:231432748-231432749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567933550	chr2:231432782-231432783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535259898	chr2:231432797-231432798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13404841	chr2:231432805-231432806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs199884566	chr2:231432850-231432851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373341248	chr2:231432866-231432867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376224212	chr2:231432871-231432872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566829208	chr2:231432873-231432874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs57539242	chr2:231432889-231432890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs398061169	chr2:231432892-231432893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544169103	chr2:231432910-231432911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72509202	chr2:231432911-231432912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs57793329	chr2:231432925-231432926	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs72336690	chr2:231432965-231432966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369247469	chr2:231432967-231432968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs16827407	chr2:231433044-231433045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs369979004	chr2:231433046-231433047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13418392	chr2:231433059-231433060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs191974586	chr2:231433069-231433070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56295541	chr2:231433071-231433072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs573459281	chr2:231433103-231433104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574995110	chr2:231433113-231433114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550917593	chr2:231433157-231433158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542044858	chr2:231433160-231433161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560222753	chr2:231433183-231433184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79319903	chr2:231433205-231433206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13418579	chr2:231433222-231433223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs563740333	chr2:231433229-231433230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13405308	chr2:231433237-231433238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs11694980	chr2:231433261-231433262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs11683686	chr2:231433264-231433265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs529112014	chr2:231433283-231433284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61115751	chr2:231433302-231433303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs386392874	chr2:231433303-231433304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397805996	chr2:231433304-231433305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547270289	chr2:231433332-231433333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376549996	chr2:231433350-231433351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57139001	chr2:231433364-231433365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529701959	chr2:231433370-231433371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11683812	chr2:231433381-231433382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs1678182	chr2:231433389-231433390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534044663	chr2:231433411-231433412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13405358	chr2:231433418-231433419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs570881441	chr2:231433451-231433452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231431000-231434000	Weak transcription	Primary B cells from cord blood	blood
2	chr2:231436200-231436600	ZNF genes & repeats	Primary T cells from cord blood	blood
3	chr2:231436600-231440000	Weak transcription	Primary T cells from cord blood	blood
4	chr2:231439400-231440800	ZNF genes & repeats	GM12878-XiMat	blood

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