Variant report

Variant	nsv961638
Chromosome Location	chr2:114328595-114336681
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:231)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:231 , 50 per page) page: 1 2 3 4 5

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	chr2:114332071-114332559	K562	blood:	n/a	n/a
4	CBX3	chr2:114329269-114329722	K562	blood:	n/a	n/a
5	CBX3	chr2:114334040-114334625	K562	blood:	n/a	n/a
6	CEBPB	chr2:114331815-114332682	K562	blood:	n/a	n/a
7	CEBPB	chr2:114332136-114332432	K562	blood:	n/a	n/a
8	CEBPB	chr2:114334095-114334557	K562	blood:	n/a	n/a
9	CEBPD	chr2:114333969-114334623	K562	blood:	n/a	n/a
10	CEBPD	chr2:114332049-114332605	K562	blood:	n/a	n/a
11	CEBPD	chr2:114336333-114336751	K562	blood:	n/a	n/a
12	CTCF	chr2:114329977-114330092	GM13976	blood:	n/a	n/a
13	CTCF	chr2:114329377-114329612	K562	blood:	n/a	n/a
14	EBF1	chr2:114336454-114336671	GM12878	blood:	n/a	n/a
15	EP300	chr2:114331803-114332138	GM12878	blood:	n/a	n/a
16	EP300	chr2:114333196-114333425	GM12878	blood:	n/a	n/a
17	EP300	chr2:114336425-114336759	GM12878	blood:	n/a	chr2:114336735-114336749
18	EP300	chr2:114332567-114332906	GM12878	blood:	n/a	n/a
19	EP300	chr2:114335752-114336042	GM12878	blood:	n/a	n/a
20	EP300	chr2:114335819-114336062	GM12878	blood:	n/a	n/a
21	FOSL2	chr2:114331444-114331777	HepG2	liver:	n/a	n/a
22	FOSL2	chr2:114334217-114334636	HepG2	liver:	n/a	chr2:114334231-114334240 chr2:114334230-114334241 chr2:114334231-114334238
23	FOSL2	chr2:114334881-114335561	HepG2	liver:	n/a	n/a
24	FOSL2	chr2:114332579-114333416	HepG2	liver:	n/a	chr2:114333071-114333082
25	FOSL2	chr2:114330756-114331096	HepG2	liver:	n/a	n/a
26	FOSL2	chr2:114331788-114332558	HepG2	liver:	n/a	chr2:114332311-114332322
27	FOSL2	chr2:114331359-114331653	HepG2	liver:	n/a	n/a
28	FOSL2	chr2:114335663-114337061	HepG2	liver:	n/a	n/a
29	FOSL2	chr2:114335695-114336861	HepG2	liver:	n/a	n/a
30	FOSL2	chr2:114330422-114330679	HepG2	liver:	n/a	n/a
31	FOSL2	chr2:114332051-114332594	HepG2	liver:	n/a	chr2:114332311-114332322
32	FOSL2	chr2:114334040-114334650	HepG2	liver:	n/a	chr2:114334231-114334240 chr2:114334230-114334241 chr2:114334231-114334238
33	FOXA1	chr2:114332142-114332503	HepG2	liver:	n/a	n/a
34	FOXA1	chr2:114335759-114336496	HepG2	liver:	n/a	n/a
35	GABPA	chr2:114332553-114333004	Hela-S3	cervix:	n/a	n/a
36	GABPA	chr2:114332139-114332333	Hela-S3	cervix:	n/a	n/a
37	GABPA	chr2:114331976-114332126	Hela-S3	cervix:	n/a	n/a
38	GABPA	chr2:114335217-114335554	Hela-S3	cervix:	n/a	n/a
39	GABPA	chr2:114333012-114333586	Hela-S3	cervix:	n/a	n/a
40	GABPA	chr2:114331855-114332471	Hela-S3	cervix:	n/a	n/a
41	GABPA	chr2:114331406-114331640	Hela-S3	cervix:	n/a	n/a
42	GABPA	chr2:114335694-114336368	Hela-S3	cervix:	n/a	n/a
43	GABPA	chr2:114334995-114335202	Hela-S3	cervix:	n/a	n/a
44	GABPA	chr2:114330722-114331058	Hela-S3	cervix:	n/a	n/a
45	GABPA	chr2:114334219-114334595	Hela-S3	cervix:	n/a	n/a
46	GABPA	chr2:114333143-114333321	Hela-S3	cervix:	n/a	n/a
47	GABPA	chr2:114334779-114335207	Hela-S3	cervix:	n/a	n/a
48	GABPA	chr2:114336406-114336684	Hela-S3	cervix:	n/a	n/a
49	GABPA	chr2:114336448-114336692	Hela-S3	cervix:	n/a	n/a
50	GABPA	chr2:114335890-114336307	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:114334065-114334115	HRPEpiC	eye:	n/a
2	chr2:114333496-114333546	HUVEC	blood vessel:	n/a
3	chr2:114333496-114333546	LNCaP	prostate:	n/a
4	chr2:114334065-114334115	NHDF-neo	bronchial:	n/a
5	chr2:114334065-114334115	AG04449	skin:	fetal
6	chr2:114333496-114333546	HCF	heart:	n/a
7	chr2:114333496-114333546	AG04449	skin:	fetal
8	chr2:114334065-114334115	NT2-D1	testis:	n/a
9	chr2:114333496-114333546	PFSK-1	brain:	n/a
10	chr2:114333496-114333546	ECC-1	luminal epithelium:	n/a
11	chr2:114333496-114333546	A549	lung:	n/a
12	chr2:114333496-114333546	H1-hESC	embryonic stem cell:	embryo
13	chr2:114333496-114333546	Caco-2	colon:	n/a
14	chr2:114333496-114333546	HepG2	liver:	n/a
15	chr2:114334065-114334115	NHBE	bronchial:	n/a
16	chr2:114333496-114333546	Jurkat	blood:	n/a
17	chr2:114333496-114333546	GM12892	blood:	n/a
18	chr2:114333496-114333546	MCF-7	breast:	n/a
19	chr2:114333496-114333546	SAEC	small airway:	n/a
20	chr2:114334065-114334115	LNCaP	prostate:	n/a
21	chr2:114333496-114333546	BE2_C	brain:	n/a
22	chr2:114333496-114333546	HEEpiC	esophagus:	n/a
23	chr2:114334065-114334115	ECC-1	luminal epithelium:	n/a
24	chr2:114334065-114334115	HCT-116	colon:	n/a
25	chr2:114333496-114333546	HRE	kidney:	n/a
26	chr2:114334065-114334115	K562	blood:	n/a
27	chr2:114333496-114333546	U87	brain:	n/a
28	chr2:114333496-114333546	HCM	heart:	n/a
29	chr2:114334065-114334115	HepG2	liver:	n/a
30	chr2:114334065-114334115	H1-hESC	embryonic stem cell:	embryo
31	chr2:114333496-114333546	HRPEpiC	eye:	n/a
32	chr2:114334065-114334115	GM12891	blood:	n/a
33	chr2:114333496-114333546	HCT-116	colon:	n/a
34	chr2:114334065-114334115	SK-N-SH_RA	brain:	n/a
35	chr2:114333496-114333546	NT2-D1	testis:	n/a
36	chr2:114334065-114334115	HRCEpiC	kidney:	n/a
37	chr2:114334065-114334115	NH-A	brain:	n/a
38	chr2:114334065-114334115	AG09319	gingival:	n/a
39	chr2:114334065-114334115	HEK293	kidney:	embryo
40	chr2:114334065-114334115	T-47D	breast:	n/a
41	chr2:114334065-114334115	HCPEpiC	choroid plexus:	n/a
42	chr2:114334065-114334115	BJ	skin:	n/a
43	chr2:114333496-114333546	IMR90	lung:	fetal
44	chr2:114333496-114333546	SK-N-SH_RA	brain:	n/a
45	chr2:114333496-114333546	NH-A	brain:	n/a
46	chr2:114333496-114333546	HCPEpiC	choroid plexus:	n/a
47	chr2:114334065-114334115	AG10803	skin:	n/a
48	chr2:114333496-114333546	GM06990	blood:	n/a
49	chr2:114334065-114334115	HCM	heart:	n/a
50	chr2:114333496-114333546	HEK293	kidney:	embryo

No data

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

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

No data

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

Extended variants
information (count: 277 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:277 , 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	rs536546128	chr2:114328683-114328684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556093674	chr2:114328719-114328720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575962296	chr2:114328749-114328750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538328763	chr2:114328762-114328763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558260902	chr2:114328793-114328794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573451171	chr2:114328830-114328831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571908564	chr2:114328875-114328876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1665350	chr2:114328936-114328937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs28720009	chr2:114328997-114328998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375041396	chr2:114329069-114329070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368054030	chr2:114329080-114329081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562868373	chr2:114329084-114329085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531644346	chr2:114329118-114329119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549062841	chr2:114329193-114329194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565418295	chr2:114329234-114329235	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs199925993	chr2:114329240-114329241	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs190213521	chr2:114329247-114329248	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs547964037	chr2:114329264-114329265	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs567781891	chr2:114329270-114329271	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs550239378	chr2:114329312-114329313	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs3893136	chr2:114329326-114329327	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs538296125	chr2:114329331-114329332	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs370689040	chr2:114329338-114329339	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs62159298	chr2:114329385-114329386	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs10174451	chr2:114329388-114329389	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs553521825	chr2:114329389-114329390	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs534418369	chr2:114329391-114329392	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs554722101	chr2:114329402-114329403	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs369769590	chr2:114329408-114329409	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs62159299	chr2:114329429-114329430	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs116123247	chr2:114329463-114329464	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
32	rs376632576	chr2:114329467-114329468	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs10197529	chr2:114329491-114329492	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs200007050	chr2:114329508-114329509	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs543687665	chr2:114329522-114329523	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs377371570	chr2:114329545-114329546	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs557002938	chr2:114329560-114329561	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs111850597	chr2:114329576-114329577	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs375562746	chr2:114329584-114329585	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs111690791	chr2:114329599-114329600	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs184176180	chr2:114329626-114329627	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs373731623	chr2:114329628-114329629	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs140408439	chr2:114329663-114329664	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs565283333	chr2:114329664-114329665	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs2019963	chr2:114329677-114329678	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs527755657	chr2:114329691-114329692	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs541550961	chr2:114329699-114329700	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs561515304	chr2:114329703-114329704	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs530256663	chr2:114329730-114329731	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs62159300	chr2:114329763-114329764	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	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:30 , 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	chr2:114326200-114332600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:114327600-114328600	Enhancers	K562	blood
5	chr2:114327600-114329200	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr2:114327600-114329800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:114328600-114330600	Weak transcription	K562	blood
8	chr2:114329200-114329800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr2:114329200-114329800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr2:114329400-114329600	Enhancers	NHDF-Ad	bronchial
11	chr2:114329600-114341000	Weak transcription	NHDF-Ad	bronchial
12	chr2:114329800-114330000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr2:114329800-114333000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr2:114330000-114332600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr2:114330600-114334400	Enhancers	K562	blood
16	chr2:114332600-114333200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:114332600-114333200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr2:114333000-114333200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr2:114333200-114334000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:114333200-114340000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr2:114333200-114340200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr2:114334000-114335000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:114334200-114334800	Enhancers	Fetal Muscle Leg	muscle
24	chr2:114334400-114336600	Weak transcription	K562	blood
25	chr2:114334800-114340200	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:114335000-114336600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:114336600-114336800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:114336600-114337000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:114336600-114337000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:114336600-114340200	Enhancers	K562	blood

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