Variant report

Variant	nsv961639
Chromosome Location	chr2:114333474-114336681
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:140)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:140 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr2:114331512-114333637	K562	blood:	n/a	n/a
2	CBX3	chr2:114335770-114336797	K562	blood:	n/a	n/a
3	CBX3	chr2:114334040-114334625	K562	blood:	n/a	n/a
4	CEBPB	chr2:114334095-114334557	K562	blood:	n/a	n/a
5	CEBPD	chr2:114333969-114334623	K562	blood:	n/a	n/a
6	CEBPD	chr2:114336333-114336751	K562	blood:	n/a	n/a
7	EBF1	chr2:114336454-114336671	GM12878	blood:	n/a	n/a
8	EP300	chr2:114335819-114336062	GM12878	blood:	n/a	n/a
9	EP300	chr2:114335752-114336042	GM12878	blood:	n/a	n/a
10	EP300	chr2:114336425-114336759	GM12878	blood:	n/a	chr2:114336735-114336749
11	FOSL2	chr2:114334040-114334650	HepG2	liver:	n/a	chr2:114334231-114334240 chr2:114334230-114334241 chr2:114334231-114334238
12	FOSL2	chr2:114334217-114334636	HepG2	liver:	n/a	chr2:114334231-114334240 chr2:114334230-114334241 chr2:114334231-114334238
13	FOSL2	chr2:114335695-114336861	HepG2	liver:	n/a	n/a
14	FOSL2	chr2:114335663-114337061	HepG2	liver:	n/a	n/a
15	FOSL2	chr2:114334881-114335561	HepG2	liver:	n/a	n/a
16	FOXA1	chr2:114335759-114336496	HepG2	liver:	n/a	n/a
17	GABPA	chr2:114334219-114334595	Hela-S3	cervix:	n/a	n/a
18	GABPA	chr2:114336448-114336692	Hela-S3	cervix:	n/a	n/a
19	GABPA	chr2:114334391-114334518	Hela-S3	cervix:	n/a	n/a
20	GABPA	chr2:114333012-114333586	Hela-S3	cervix:	n/a	n/a
21	GABPA	chr2:114335694-114336368	Hela-S3	cervix:	n/a	n/a
22	GABPA	chr2:114336406-114336684	Hela-S3	cervix:	n/a	n/a
23	GABPA	chr2:114335217-114335554	Hela-S3	cervix:	n/a	n/a
24	GABPA	chr2:114334779-114335207	Hela-S3	cervix:	n/a	n/a
25	GABPA	chr2:114335890-114336307	Hela-S3	cervix:	n/a	n/a
26	GABPA	chr2:114334995-114335202	Hela-S3	cervix:	n/a	n/a
27	GATA2	chr2:114333968-114335549	K562	blood:	n/a	chr2:114334232-114334241
28	GATA2	chr2:114335788-114337170	K562	blood:	n/a	n/a
29	GATA2	chr2:114331322-114333699	K562	blood:	n/a	n/a
30	HEY1	chr2:114335963-114336178	HepG2	liver:	n/a	n/a
31	HEY1	chr2:114331431-114333666	K562	blood:	n/a	n/a
32	HEY1	chr2:114334259-114334524	HepG2	liver:	n/a	n/a
33	HEY1	chr2:114335699-114336544	HepG2	liver:	n/a	n/a
34	HEY1	chr2:114331291-114335500	K562	blood:	n/a	n/a
35	HEY1	chr2:114333928-114335338	K562	blood:	n/a	n/a
36	HEY1	chr2:114335673-114336740	K562	blood:	n/a	n/a
37	HEY1	chr2:114335663-114336784	K562	blood:	n/a	n/a
38	JUND	chr2:114334193-114334605	HepG2	liver:	n/a	chr2:114334231-114334240 chr2:114334230-114334241 chr2:114334231-114334238
39	JUND	chr2:114335877-114336353	HepG2	liver:	n/a	n/a
40	JUND	chr2:114334690-114335116	HepG2	liver:	n/a	n/a
41	JUND	chr2:114335762-114336722	HepG2	liver:	n/a	n/a
42	JUND	chr2:114335551-114335713	HepG2	liver:	n/a	n/a
43	JUND	chr2:114334993-114335113	HepG2	liver:	n/a	n/a
44	JUND	chr2:114335243-114335448	HepG2	liver:	n/a	n/a
45	NR2F2	chr2:114331376-114333702	K562	blood:	n/a	n/a
46	NR2F2	chr2:114333996-114334665	K562	blood:	n/a	n/a
47	NR2F2	chr2:114336072-114336800	K562	blood:	n/a	n/a
48	NR2F2	chr2:114334103-114334559	K562	blood:	n/a	n/a
49	NR2F2	chr2:114335265-114336969	K562	blood:	n/a	n/a
50	PAX5	chr2:114335835-114336755	GM12878	blood:	n/a	chr2:114336638-114336656

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:114333496-114333546	HEEpiC	esophagus:	n/a
2	chr2:114333496-114333546	MCF-7	breast:	n/a
3	chr2:114334065-114334115	SKMC	muscle:	n/a
4	chr2:114334065-114334115	PANC-1	pancreas:	n/a
5	chr2:114333496-114333546	H1-hESC	embryonic stem cell:	embryo
6	chr2:114333496-114333546	HUVEC	blood vessel:	n/a
7	chr2:114333496-114333546	HCPEpiC	choroid plexus:	n/a
8	chr2:114334065-114334115	HRCEpiC	kidney:	n/a
9	chr2:114333496-114333546	A549	lung:	n/a
10	chr2:114334065-114334115	HRPEpiC	eye:	n/a
11	chr2:114333496-114333546	Caco-2	colon:	n/a
12	chr2:114334065-114334115	NHDF-neo	bronchial:	n/a
13	chr2:114333496-114333546	HPAEpiC	pulmonary alveolar:	n/a
14	chr2:114334065-114334115	SK-N-SH_RA	brain:	n/a
15	chr2:114334065-114334115	Caco-2	colon:	n/a
16	chr2:114334065-114334115	BE2_C	brain:	n/a
17	chr2:114334065-114334115	HRE	kidney:	n/a
18	chr2:114333496-114333546	GM12892	blood:	n/a
19	chr2:114334065-114334115	AG09319	gingival:	n/a
20	chr2:114334065-114334115	GM12878	blood:	n/a
21	chr2:114333496-114333546	SK-N-SH_RA	brain:	n/a
22	chr2:114334065-114334115	NB4	blood:	n/a
23	chr2:114334065-114334115	GM12891	blood:	n/a
24	chr2:114333496-114333546	Hepatocyte	liver:	n/a
25	chr2:114334065-114334115	HUVEC	blood vessel:	n/a
26	chr2:114333496-114333546	IMR90	lung:	fetal
27	chr2:114333496-114333546	SAEC	small airway:	n/a
28	chr2:114333496-114333546	GM19239	blood:	n/a
29	chr2:114334065-114334115	HCM	heart:	n/a
30	chr2:114334065-114334115	ovcar-3	ovarian:	n/a
31	chr2:114334065-114334115	PFSK-1	brain:	n/a
32	chr2:114333496-114333546	PFSK-1	brain:	n/a
33	chr2:114333496-114333546	GM12891	blood:	n/a
34	chr2:114334065-114334115	HCF	heart:	n/a
35	chr2:114334065-114334115	HPAEpiC	pulmonary alveolar:	n/a
36	chr2:114333496-114333546	U87	brain:	n/a
37	chr2:114334065-114334115	K562	blood:	n/a
38	chr2:114333496-114333546	HL-60	blood:	n/a
39	chr2:114334065-114334115	HMEC	breast:	n/a
40	chr2:114334065-114334115	AG04450	lung:	fetal
41	chr2:114333496-114333546	AG04449	skin:	fetal
42	chr2:114334065-114334115	AG09309	skin:	n/a
43	chr2:114334065-114334115	Jurkat	blood:	n/a
44	chr2:114334065-114334115	MCF-7	breast:	n/a
45	chr2:114333496-114333546	Jurkat	blood:	n/a
46	chr2:114334065-114334115	HCT-116	colon:	n/a
47	chr2:114333496-114333546	HRPEpiC	eye:	n/a
48	chr2:114333496-114333546	NHBE	bronchial:	n/a
49	chr2:114333496-114333546	HMEC	breast:	n/a
50	chr2:114334065-114334115	ECC-1	luminal epithelium:	n/a

No data

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RABL2A-2	chr2:114335559-114335763	ENSG00000226516.3
2	lnc-RABL2A-2	chr2:114335559-114335763	ENSG00000226516
3	lnc-RABL2A-2	chr2:114334959-114335319	XLOC_001632
4	lnc-RABL2A-2	chr2:114335866-114336428	XLOC_001632
5	lnc-RABL2A-2	chr2:114335192-114335319	ENSG00000226516
6	lnc-RABL2A-2	chr2:114336158-114336486	XLOC_001632
7	lnc-RABL2A-2	chr2:114335559-114335961	XLOC_001632
8	lnc-RABL2A-2	chr2:114335866-114336429	ENSG00000226516.3
9	lnc-RABL2A-2	chr2:114334959-114335319	ENSG00000226516.3
10	lnc-RABL2A-2	chr2:114334959-114335319	ENSG00000226516.3
11	lnc-AC016745.1-6	chr2:114335509-114335609	l_1930_chr2:114303057-114317403_testes
12	lnc-RABL2A-2	chr2:114335559-114336429	ENSG00000226516.3
13	lnc-RABL2A-2	chr2:114335559-114335763	XLOC_001632
14	lnc-RABL2A-2	chr2:114334959-114335319	XLOC_001632
15	lnc-RABL2A-2	chr2:114335866-114336353	ENSG00000226516

No data

Variant related genes	Relation type
FAM138B	TF binding region
WASH2P	TF binding region
FAM138B	CpG island
WASH2P	CpG island
C11orf54	miRNA target sites
C10orf88	miRNA target sites
C11orf41	miRNA target sites

Extended variants
information (count: 100 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564208816	chr2:114333474-114333475	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs533071104	chr2:114333496-114333497	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs7588688	chr2:114333535-114333536	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs56272028	chr2:114333572-114333573	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs546772585	chr2:114333584-114333585	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs566684004	chr2:114333609-114333610	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs529144924	chr2:114333619-114333620	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs549294588	chr2:114333628-114333629	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs3877493	chr2:114333646-114333647	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs568342265	chr2:114333710-114333711	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs566798045	chr2:114333751-114333752	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs537500550	chr2:114333763-114333764	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs60693740	chr2:114333780-114333781	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs557027697	chr2:114333829-114333830	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs570563620	chr2:114333893-114333894	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs539565596	chr2:114333935-114333936	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs2758047	chr2:114333948-114333949	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs141686911	chr2:114333950-114333951	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs10864917	chr2:114333971-114333972	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs573418239	chr2:114334044-114334045	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs6727150	chr2:114334048-114334049	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs542132748	chr2:114334060-114334061	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs6740116	chr2:114334066-114334067	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs2441627	chr2:114334075-114334076	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs556069165	chr2:114334080-114334081	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs149457858	chr2:114334083-114334084	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs6730337	chr2:114334102-114334103	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs2441626	chr2:114334106-114334107	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs185880806	chr2:114334108-114334109	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs6712386	chr2:114334109-114334110	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs564076404	chr2:114334110-114334111	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs533033721	chr2:114334126-114334127	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs148417821	chr2:114334147-114334148	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs56326313	chr2:114334161-114334162	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs415337	chr2:114334175-114334176	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs455157	chr2:114334189-114334190	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs10864918	chr2:114334190-114334191	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs2441625	chr2:114334195-114334196	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs141145756	chr2:114334207-114334208	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs10864919	chr2:114334215-114334216	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs6730472	chr2:114334216-114334217	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs560077304	chr2:114334225-114334226	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs191869042	chr2:114334231-114334232	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs549004590	chr2:114334264-114334265	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs6715502	chr2:114334272-114334273	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs6743126	chr2:114334275-114334276	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs2418670	chr2:114334305-114334306	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs147518320	chr2:114334361-114334362	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs113533434	chr2:114334416-114334417	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs531511745	chr2:114334430-114334431	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Malignant peripheral nerve sheath tumor	18522746	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
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114311400-114340400	Weak transcription	Fetal Stomach	stomach
2	chr2:114314600-114339000	Weak transcription	NHLF	lung
3	chr2:114329600-114341000	Weak transcription	NHDF-Ad	bronchial
4	chr2:114330600-114334400	Enhancers	K562	blood
5	chr2:114333200-114334000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:114333200-114340000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr2:114333200-114340200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr2:114334000-114335000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:114334200-114334800	Enhancers	Fetal Muscle Leg	muscle
10	chr2:114334400-114336600	Weak transcription	K562	blood
11	chr2:114334800-114340200	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:114335000-114336600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:114336600-114336800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:114336600-114337000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:114336600-114337000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:114336600-114340200	Enhancers	K562	blood

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