Variant report

Variant	nsv961496
Chromosome Location	chr2:114416306-114428065
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:114420843-114421056	HepG2	liver:	n/a	n/a
2	CEBPB	chr2:114420982-114421177	K562	blood:	n/a	n/a
3	CTCF	chr2:114424072-114424161	MCF-7	breast:	n/a	n/a
4	CTCF	chr2:114427440-114427590	WERI-Rb-1	eye:	n/a	n/a
5	CTCF	chr2:114424086-114424136	MCF-7	breast:	n/a	n/a
6	CTCF	chr2:114424065-114424176	GM12878	blood:	n/a	n/a
7	CTCF	chr2:114424048-114424176	GM12891	blood:	n/a	n/a
8	CTCF	chr2:114424053-114424164	GM12892	blood:	n/a	n/a
9	CTCF	chr2:114423220-114423370	WERI-Rb-1	eye:	n/a	chr2:114423268-114423281
10	CTCF	chr2:114423240-114423390	GM12864	blood:	n/a	chr2:114423268-114423281
11	CTCF	chr2:114423357-114423402	MCF-7	breast:	n/a	n/a
12	CTCF	chr2:114424040-114424190	GM12873	blood:	n/a	n/a
13	CTCF	chr2:114424067-114424179	MCF-7	breast:	n/a	n/a
14	CTCF	chr2:114424047-114424166	HepG2	liver:	n/a	n/a
15	CTCF	chr2:114423231-114423442	HepG2	liver:	n/a	chr2:114423268-114423281
16	CTCF	chr2:114424067-114424142	GM19240	blood:	n/a	n/a
17	CTCF	chr2:114423319-114423416	MCF-7	breast:	n/a	n/a
18	CTCF	chr2:114424116-114424141	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr2:114424000-114424150	HepG2	liver:	n/a	n/a
20	CTCF	chr2:114423356-114423394	MCF-7	breast:	n/a	n/a
21	CTCF	chr2:114423320-114423407	K562	blood:	n/a	n/a
22	CTCF	chr2:114424067-114424167	MCF-7	breast:	n/a	n/a
23	CTCF	chr2:114424055-114424177	MCF-7	breast:	n/a	n/a
24	CTCF	chr2:114424047-114424154	GM19239	blood:	n/a	n/a
25	CTCF	chr2:114423300-114423450	GM12864	blood:	n/a	n/a
26	CTCF	chr2:114424051-114424176	GM19238	blood:	n/a	n/a
27	CTCF	chr2:114423312-114423390	HepG2	liver:	n/a	n/a
28	CTCF	chr2:114423618-114423699	GM13976	blood:	n/a	n/a
29	EP300	chr2:114421015-114421188	K562	blood:	n/a	n/a
30	FOS	chr2:114420984-114421162	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr2:114421439-114421543	MCF10A-Er-Src	breast:	n/a	n/a
32	MYC	chr2:114425731-114425769	HepG2	liver:	n/a	n/a
33	MYC	chr2:114423530-114423542	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr2:114424053-114424140	HepG2	liver:	n/a	n/a
35	POLR2A	chr2:114420152-114420310	K562	blood:	n/a	n/a
36	POLR2A	chr2:114426499-114426641	HepG2	liver:	n/a	n/a
37	POLR2A	chr2:114418800-114419928	K562	blood:	n/a	n/a
38	POLR2A	chr2:114423997-114424165	GM12878	blood:	n/a	n/a
39	POLR2A	chr2:114417103-114418374	K562	blood:	n/a	n/a
40	POLR2A	chr2:114421288-114421753	K562	blood:	n/a	n/a
41	POLR2A	chr2:114425256-114425549	K562	blood:	n/a	n/a
42	POLR2A	chr2:114422020-114422997	K562	blood:	n/a	n/a
43	POLR2A	chr2:114424001-114424713	K562	blood:	n/a	n/a
44	POLR2A	chr2:114426838-114427139	K562	blood:	n/a	n/a
45	POLR2A	chr2:114423692-114423755	K562	blood:	n/a	n/a
46	POLR2A	chr2:114425866-114426570	K562	blood:	n/a	n/a
47	RAD21	chr2:114423248-114423457	HepG2	liver:	n/a	n/a
48	RAD21	chr2:114423240-114423443	HepG2	liver:	n/a	n/a
49	RAD21	chr2:114423365-114423367	HepG2	liver:	n/a	n/a
50	RAD21	chr2:114423186-114423561	H1-hESC	embryonic stem cell:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:114426155-114426205	AG09319	gingival:	n/a
2	chr2:114426838-114426888	HNPCEpiC	eye:	n/a
3	chr2:114426838-114426888	HCPEpiC	choroid plexus:	n/a
4	chr2:114427559-114427609	MCF-7	breast:	n/a
5	chr2:114426529-114426579	Caco-2	colon:	n/a
6	chr2:114426838-114426888	MCF-7	breast:	n/a
7	chr2:114426838-114426888	GM06990	blood:	n/a
8	chr2:114426529-114426579	ProgFib	skin:	n/a
9	chr2:114427559-114427609	GM19239	blood:	n/a
10	chr2:114426155-114426205	MCF10A-Er-Src	breast:	n/a
11	chr2:114426825-114426875	GM12878	blood:	n/a
12	chr2:114426825-114426875	SKMC	muscle:	n/a
13	chr2:114426529-114426579	SKMC	muscle:	n/a
14	chr2:114426838-114426888	IMR90	lung:	fetal
15	chr2:114426155-114426205	AG04450	lung:	fetal
16	chr2:114426825-114426875	Hela-S3	cervix:	n/a
17	chr2:114426825-114426875	HEEpiC	esophagus:	n/a
18	chr2:114426529-114426579	GM12891	blood:	n/a
19	chr2:114426529-114426579	IMR90	lung:	fetal
20	chr2:114427559-114427609	GM12878	blood:	n/a
21	chr2:114426825-114426875	U87	brain:	n/a
22	chr2:114426825-114426875	HPAEpiC	pulmonary alveolar:	n/a
23	chr2:114427559-114427609	GM12891	blood:	n/a
24	chr2:114426155-114426205	SK-N-MC	brain:	n/a
25	chr2:114426838-114426888	Hepatocyte	liver:	n/a
26	chr2:114426529-114426579	HUVEC	blood vessel:	n/a
27	chr2:114427559-114427609	SAEC	small airway:	n/a
28	chr2:114426838-114426888	GM12892	blood:	n/a
29	chr2:114426155-114426205	Jurkat	blood:	n/a
30	chr2:114426155-114426205	HRCEpiC	kidney:	n/a
31	chr2:114426529-114426579	ovcar-3	ovarian:	n/a
32	chr2:114427559-114427609	NT2-D1	testis:	n/a
33	chr2:114426825-114426875	A549	lung:	n/a
34	chr2:114426529-114426579	HL-60	blood:	n/a
35	chr2:114426825-114426875	HRCEpiC	kidney:	n/a
36	chr2:114426825-114426875	SK-N-SH	brain:	n/a
37	chr2:114426825-114426875	BJ	skin:	n/a
38	chr2:114427559-114427609	H1-hESC	embryonic stem cell:	embryo
39	chr2:114426155-114426205	GM12892	blood:	n/a
40	chr2:114426529-114426579	H1-hESC	embryonic stem cell:	embryo
41	chr2:114426529-114426579	AG10803	skin:	n/a
42	chr2:114427559-114427609	HNPCEpiC	eye:	n/a
43	chr2:114426155-114426205	BJ	skin:	n/a
44	chr2:114427559-114427609	T-47D	breast:	n/a
45	chr2:114426825-114426875	Hepatocyte	liver:	n/a
46	chr2:114426529-114426579	PFSK-1	brain:	n/a
47	chr2:114426529-114426579	AG09319	gingival:	n/a
48	chr2:114427559-114427609	GM12892	blood:	n/a
49	chr2:114426529-114426579	NH-A	brain:	n/a
50	chr2:114426838-114426888	Jurkat	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RABL2A-1	chr2:114426743-114426778	XLOC_001633

No data

Variant related genes	Relation type
ENSG00000233479	TF binding region
ENSG00000175509	TF binding region
ENSG00000233479	CpG island
ENSG00000175509	CpG island
ORMDL3	miRNA target sites

Extended variants
information (count: 238 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188430390	chr2:114421752-114421753	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs536544735	chr2:114422026-114422027	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs555517483	chr2:114422086-114422087	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs575578936	chr2:114422163-114422164	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs544406082	chr2:114422193-114422194	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs556271267	chr2:114422222-114422223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs569737578	chr2:114422234-114422235	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs558202510	chr2:114422263-114422264	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs182372943	chr2:114422266-114422267	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs377095224	chr2:114422273-114422274	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs79047678	chr2:114422281-114422282	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs535551512	chr2:114422301-114422302	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs540384595	chr2:114422317-114422318	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs3865767	chr2:114422350-114422351	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs369486877	chr2:114422366-114422367	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs145341460	chr2:114422379-114422380	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs3982471	chr2:114422380-114422381	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs572604334	chr2:114422404-114422405	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs529587428	chr2:114422407-114422408	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs3865765	chr2:114422491-114422492	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs543293517	chr2:114422502-114422503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs562373510	chr2:114422534-114422535	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs531310989	chr2:114422535-114422536	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs187375955	chr2:114422621-114422622	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs571325535	chr2:114422628-114422629	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs374458392	chr2:114422689-114422690	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs547660396	chr2:114422751-114422752	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs74321495	chr2:114422778-114422779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs373982738	chr2:114422806-114422807	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs116946490	chr2:114422840-114422841	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs74209081	chr2:114422856-114422857	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs114521918	chr2:114422861-114422862	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs569179142	chr2:114422869-114422870	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs558070895	chr2:114422870-114422871	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs11123202	chr2:114422971-114422972	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs557837254	chr2:114422994-114422995	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs11123203	chr2:114423065-114423066	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs200816754	chr2:114423086-114423087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115176830	chr2:114423138-114423139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563364881	chr2:114423153-114423154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573877326	chr2:114423258-114423259	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs542975632	chr2:114423322-114423323	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs563163510	chr2:114423412-114423413	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs531218218	chr2:114423447-114423448	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs544942730	chr2:114423480-114423481	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs564871090	chr2:114423545-114423546	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs527423895	chr2:114423550-114423551	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs547498380	chr2:114423560-114423561	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs529315696	chr2:114423663-114423664	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs561092939	chr2:114423673-114423674	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Neuroticism	17667963	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114422800-114423400	Enhancers	Fetal Heart	heart
2	chr2:114422800-114423600	Enhancers	Lung	lung
3	chr2:114423000-114423400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:114424600-114424800	Active TSS	Sigmoid Colon	Sigmoid Colon
5	chr2:114424800-114433400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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