Variant report

Variant	nsv10130
Chromosome Location	chr2:114171428-114254459
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:944)
CpG islands
(count:489)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:944 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:114181075-114181226	HepG2	liver:	n/a	n/a
2	ATF1	chr2:114195252-114195468	K562	blood:	n/a	n/a
3	ATF3	chr2:114195215-114195323	K562	blood:	n/a	n/a
4	BATF	chr2:114188935-114190118	GM12878	blood:	n/a	chr2:114189910-114189918
5	BATF	chr2:114251658-114251933	GM12878	blood:	n/a	n/a
6	BATF	chr2:114188894-114189247	GM12878	blood:	n/a	n/a
7	BATF	chr2:114221639-114221843	GM12878	blood:	n/a	n/a
8	BATF	chr2:114188569-114188750	GM12878	blood:	n/a	n/a
9	BATF	chr2:114194968-114195790	GM12878	blood:	n/a	chr2:114195333-114195346
10	BATF	chr2:114206782-114207175	GM12878	blood:	n/a	n/a
11	BATF	chr2:114217280-114217821	GM12878	blood:	n/a	n/a
12	BATF	chr2:114173977-114174745	GM12878	blood:	n/a	n/a
13	BATF	chr2:114216587-114216848	GM12878	blood:	n/a	n/a
14	BATF	chr2:114194949-114195748	GM12878	blood:	n/a	chr2:114195333-114195346
15	BATF	chr2:114214368-114214841	GM12878	blood:	n/a	n/a
16	BATF	chr2:114190256-114190764	GM12878	blood:	n/a	n/a
17	BATF	chr2:114189261-114190171	GM12878	blood:	n/a	chr2:114189910-114189918
18	BATF	chr2:114174348-114174775	GM12878	blood:	n/a	n/a
19	BATF	chr2:114179478-114179679	GM12878	blood:	n/a	n/a
20	BATF	chr2:114209720-114209940	GM12878	blood:	n/a	n/a
21	BATF	chr2:114217887-114218111	GM12878	blood:	n/a	n/a
22	BATF	chr2:114196059-114196346	GM12878	blood:	n/a	n/a
23	BATF	chr2:114188181-114188552	GM12878	blood:	n/a	n/a
24	BATF	chr2:114188216-114188558	GM12878	blood:	n/a	n/a
25	BATF	chr2:114175312-114175602	GM12878	blood:	n/a	chr2:114175554-114175563
26	BATF	chr2:114190291-114190748	GM12878	blood:	n/a	n/a
27	BATF	chr2:114206835-114207033	GM12878	blood:	n/a	n/a
28	BATF	chr2:114196999-114197200	GM12878	blood:	n/a	n/a
29	BATF	chr2:114253690-114253875	GM12878	blood:	n/a	n/a
30	BATF	chr2:114217254-114217816	GM12878	blood:	n/a	n/a
31	BATF	chr2:114196004-114196344	GM12878	blood:	n/a	n/a
32	BATF	chr2:114241890-114242082	GM12878	blood:	n/a	n/a
33	BATF	chr2:114242853-114243066	GM12878	blood:	n/a	n/a
34	BCL11A	chr2:114194982-114195839	GM12878	blood:	n/a	n/a
35	BCL11A	chr2:114206875-114207274	GM12878	blood:	n/a	n/a
36	BCL11A	chr2:114217288-114217875	GM12878	blood:	n/a	n/a
37	BCL11A	chr2:114214317-114214657	GM12878	blood:	n/a	n/a
38	BCL11A	chr2:114214598-114214952	GM12878	blood:	n/a	n/a
39	BCL11A	chr2:114173796-114174016	GM12878	blood:	n/a	n/a
40	BCL11A	chr2:114238925-114239211	GM12878	blood:	n/a	n/a
41	BCL11A	chr2:114209863-114210125	GM12878	blood:	n/a	n/a
42	BCL11A	chr2:114221827-114222010	GM12878	blood:	n/a	n/a
43	BCL11A	chr2:114242859-114243080	GM12878	blood:	n/a	n/a
44	BCL11A	chr2:114189499-114190082	GM12878	blood:	n/a	n/a
45	BCL11A	chr2:114196588-114196773	GM12878	blood:	n/a	n/a
46	BCL11A	chr2:114217254-114217924	GM12878	blood:	n/a	n/a
47	BCL11A	chr2:114195894-114196377	GM12878	blood:	n/a	n/a
48	BCL11A	chr2:114190281-114190590	GM12878	blood:	n/a	n/a
49	BCL11A	chr2:114188907-114190102	GM12878	blood:	n/a	n/a
50	BCL11A	chr2:114216516-114216944	GM12878	blood:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:114252811-114252861	HNPCEpiC	eye:	n/a
2	chr2:114252811-114252861	HNPCEpiC	eye:	n/a
3	chr2:114194541-114194591	HNPCEpiC	eye:	n/a
4	chr2:114195528-114195578	NH-A	brain:	n/a
5	chr2:114252811-114252861	A549	lung:	n/a
6	chr2:114197839-114197889	BE2_C	brain:	n/a
7	chr2:114194645-114194695	HEEpiC	esophagus:	n/a
8	chr2:114252811-114252861	GM19239	blood:	n/a
9	chr2:114197839-114197889	MCF10A-Er-Src	breast:	n/a
10	chr2:114197839-114197889	HEK293	kidney:	embryo
11	chr2:114196091-114196141	HCM	heart:	n/a
12	chr2:114196058-114196108	IMR90	lung:	fetal
13	chr2:114206313-114206363	NT2-D1	testis:	n/a
14	chr2:114194645-114194695	SAEC	small airway:	n/a
15	chr2:114196058-114196108	HCT-116	colon:	n/a
16	chr2:114197839-114197889	HAEpiC	amniotic membrane:	n/a
17	chr2:114206313-114206363	SK-N-MC	brain:	n/a
18	chr2:114195528-114195578	RPTEC	kidney:	n/a
19	chr2:114252811-114252861	PrEC	prostate:	n/a
20	chr2:114194645-114194695	NB4	blood:	n/a
21	chr2:114194645-114194695	HAEpiC	amniotic membrane:	n/a
22	chr2:114252811-114252861	AG04450	lung:	fetal
23	chr2:114196091-114196141	NB4	blood:	n/a
24	chr2:114195528-114195578	Hela-S3	cervix:	n/a
25	chr2:114194541-114194591	MCF10A-Er-Src	breast:	n/a
26	chr2:114196091-114196141	U87	brain:	n/a
27	chr2:114252811-114252861	HEEpiC	esophagus:	n/a
28	chr2:114195528-114195578	HCPEpiC	choroid plexus:	n/a
29	chr2:114196058-114196108	HRCEpiC	kidney:	n/a
30	chr2:114196058-114196108	MCF10A-Er-Src	breast:	n/a
31	chr2:114252811-114252861	MCF-7	breast:	n/a
32	chr2:114252811-114252861	Hela-S3	cervix:	n/a
33	chr2:114206313-114206363	NHDF-neo	bronchial:	n/a
34	chr2:114194645-114194695	HCM	heart:	n/a
35	chr2:114194645-114194695	HRE	kidney:	n/a
36	chr2:114252811-114252861	NHBE	bronchial:	n/a
37	chr2:114196091-114196141	GM12878	blood:	n/a
38	chr2:114196058-114196108	PFSK-1	brain:	n/a
39	chr2:114195528-114195578	H1-hESC	embryonic stem cell:	embryo
40	chr2:114252811-114252861	K562	blood:	n/a
41	chr2:114194541-114194591	HRPEpiC	eye:	n/a
42	chr2:114196091-114196141	SKMC	muscle:	n/a
43	chr2:114196091-114196141	HUVEC	blood vessel:	n/a
44	chr2:114196091-114196141	A549	lung:	n/a
45	chr2:114197839-114197889	HepG2	liver:	n/a
46	chr2:114194645-114194695	HCPEpiC	choroid plexus:	n/a
47	chr2:114197839-114197889	BJ	skin:	n/a
48	chr2:114194645-114194695	GM12892	blood:	n/a
49	chr2:114194645-114194695	CMK	blood:	n/a
50	chr2:114194541-114194591	Jurkat	blood:	n/a

No data

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC016745.1-5	chr2:114184831-114185141	expReg_chr2_8625_-
2	lnc-CBWD2-1	chr2:114182072-114182152	ENSG00000234997.1
3	lnc-CBWD2-1	chr2:114182475-114182901	ENSG00000234997.1
4	lnc-CBWD2-2	chr2:114190177-114193619	ENSG00000272563.1
5	lnc-AC016745.1-3	chr2:114189481-114189719	expReg_chr2_8632_-
6	lnc-AC016745.1-4	chr2:114186646-114186941	expReg_chr2_8628_-

No data

Variant related genes	Relation type
ENSG00000238091	TF binding region
CBWD2	TF binding region
ENSG00000272563	TF binding region
FOXD4L1	TF binding region
ENSG00000234997	TF binding region
ENSG00000238091	CpG island
CBWD2	CpG island
ENSG00000272563	CpG island
FOXD4L1	CpG island
ENSG00000234997	CpG island

Extended variants
information (count: 1816 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1816 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190528926	chr2:114171433-114171434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575701938	chr2:114171464-114171465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182449901	chr2:114171466-114171467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544970331	chr2:114171476-114171477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183527033	chr2:114171492-114171493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146650014	chr2:114171545-114171546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188178851	chr2:114171559-114171560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540964578	chr2:114171565-114171566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561278069	chr2:114171587-114171588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2921793	chr2:114171623-114171624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201139464	chr2:114171695-114171696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs202131153	chr2:114171701-114171702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376438794	chr2:114171718-114171719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562894049	chr2:114171803-114171804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531808309	chr2:114171885-114171886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551865115	chr2:114171917-114171918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371003730	chr2:114171930-114171931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2984373	chr2:114171931-114171932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527924153	chr2:114172001-114172002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149011956	chr2:114172031-114172032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567645192	chr2:114172074-114172075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536568806	chr2:114172159-114172160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143799655	chr2:114172249-114172250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181063788	chr2:114172261-114172262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538300123	chr2:114172276-114172277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558666002	chr2:114172325-114172326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572138137	chr2:114172342-114172343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541254919	chr2:114172350-114172351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200529567	chr2:114172391-114172392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185639236	chr2:114172546-114172547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191847889	chr2:114172627-114172628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561242203	chr2:114172652-114172653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200416313	chr2:114172707-114172708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543756760	chr2:114172923-114172924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201114397	chr2:114172932-114172933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562833576	chr2:114172956-114172957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181854461	chr2:114173114-114173115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531743928	chr2:114173121-114173122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530367176	chr2:114173164-114173165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2475463	chr2:114173172-114173173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375480811	chr2:114173188-114173189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2475462	chr2:114173241-114173242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540247608	chr2:114173263-114173264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143558342	chr2:114173313-114173314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72831901	chr2:114173317-114173318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200099764	chr2:114173368-114173369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368099352	chr2:114173369-114173370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58502016	chr2:114173375-114173376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2357520	chr2:114173390-114173391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2357519	chr2:114173394-114173395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114165400-114173400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:114167200-114173400	Weak transcription	GM12878-XiMat	blood
3	chr2:114167400-114173800	Weak transcription	Lung	lung
4	chr2:114173200-114173800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:114173400-114174200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:114173400-114174200	ZNF genes & repeats	GM12878-XiMat	blood
7	chr2:114173600-114173800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr2:114173800-114174000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:114173800-114174000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:114173800-114174000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:114173800-114174000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:114173800-114174000	Flanking Bivalent TSS/Enh	Lung	lung
13	chr2:114173800-114174000	Enhancers	Pancreas	Pancrea
14	chr2:114174200-114175800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:114181000-114181400	Enhancers	HepG2	liver
16	chr2:114187000-114191400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:114187400-114187600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr2:114187400-114187800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr2:114187800-114188200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:114188200-114189800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr2:114188400-114188800	Enhancers	Primary B cells from peripheral blood	blood
22	chr2:114188400-114189800	Active TSS	Monocytes-CD14+_RO01746	blood
23	chr2:114188600-114189000	Active TSS	GM12878-XiMat	blood
24	chr2:114188800-114189000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:114188800-114189800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr2:114188800-114191200	Enhancers	Primary B cells from cord blood	blood
27	chr2:114189000-114189600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:114189000-114189800	Weak transcription	GM12878-XiMat	blood
29	chr2:114189400-114190200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:114189600-114190200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:114189800-114190000	Active TSS	GM12878-XiMat	blood
32	chr2:114189800-114190200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr2:114189800-114190200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr2:114189800-114190200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr2:114189800-114191400	Enhancers	Primary B cells from peripheral blood	blood
36	chr2:114190000-114190200	Flanking Active TSS	GM12878-XiMat	blood
37	chr2:114190200-114190400	Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr2:114190200-114190400	Enhancers	GM12878-XiMat	blood
39	chr2:114190200-114191000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:114190200-114191200	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr2:114190200-114194600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:114190200-114194600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:114190400-114190800	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr2:114190400-114190800	Weak transcription	GM12878-XiMat	blood
45	chr2:114190800-114191400	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr2:114190800-114191400	Enhancers	GM12878-XiMat	blood
47	chr2:114191000-114191200	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr2:114191200-114194200	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr2:114191200-114195000	Weak transcription	Primary B cells from cord blood	blood
50	chr2:114191200-114195000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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