Variant report

Variant	nsv1002047
Chromosome Location	chr2:63584797-63648782
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:160)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:160 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:63605764-63605916	K562	blood:	n/a	n/a
2	ARID3A	chr2:63599569-63599971	HepG2	liver:	n/a	n/a
3	ATF1	chr2:63605820-63606016	K562	blood:	n/a	n/a
4	ATF1	chr2:63596308-63596903	K562	blood:	n/a	n/a
5	BACH1	chr2:63605900-63606036	K562	blood:	n/a	chr2:63605922-63605936
6	BACH1	chr2:63635782-63635980	H1-hESC	embryonic stem cell:	n/a	n/a
7	CCNT2	chr2:63645901-63646101	K562	blood:	n/a	n/a
8	CEBPB	chr2:63591020-63591539	MCF-7	breast:	n/a	chr2:63591256-63591267
9	CEBPB	chr2:63625474-63625513	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr2:63625411-63625650	HepG2	liver:	n/a	n/a
11	CEBPB	chr2:63591206-63591406	HepG2	liver:	n/a	chr2:63591256-63591267
12	CEBPB	chr2:63625354-63625626	A549	lung:	n/a	n/a
13	CEBPB	chr2:63621990-63622190	HepG2	liver:	n/a	n/a
14	CEBPB	chr2:63612350-63612611	HepG2	liver:	n/a	n/a
15	CREB1	chr2:63596269-63596615	H1-hESC	embryonic stem cell:	n/a	n/a
16	CREB1	chr2:63596371-63596633	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr2:63595220-63595370	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr2:63595260-63595410	HCM	heart:	n/a	n/a
19	CTCF	chr2:63595220-63595370	GM12873	blood:	n/a	n/a
20	CTCF	chr2:63636179-63636250	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr2:63595335-63595350	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr2:63635680-63635830	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr2:63635700-63635850	HEEpiC	esophagus:	n/a	n/a
24	CTCF	chr2:63595260-63595410	HMEC	breast:	n/a	n/a
25	CTCF	chr2:63635660-63635810	SAEC	small airway:	n/a	n/a
26	CTCF	chr2:63595220-63595370	AG10803	skin:	n/a	n/a
27	CTCF	chr2:63600456-63600508	Fibrobl	skin:	n/a	n/a
28	CTCF	chr2:63599969-63599999	GM13976	blood:	n/a	n/a
29	CTCF	chr2:63595280-63595430	AG04450	lung:	n/a	n/a
30	CTCF	chr2:63595200-63595350	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr2:63595280-63595430	MCF-7	breast:	n/a	n/a
32	CTCF	chr2:63595300-63595450	AG04450	lung:	n/a	n/a
33	CTCF	chr2:63595280-63595430	HBMEC	blood vessel:	n/a	n/a
34	CTCF	chr2:63635640-63635790	HMEC	breast:	n/a	n/a
35	CTCF	chr2:63595240-63595390	HepG2	liver:	n/a	n/a
36	CTCF	chr2:63588780-63588930	HAc	cerebellar:	n/a	n/a
37	CTCF	chr2:63595100-63595250	MCF-7	breast:	n/a	n/a
38	CTCF	chr2:63595260-63595410	AoAF	blood vessel:	n/a	n/a
39	CTCF	chr2:63635700-63635850	HepG2	liver:	n/a	n/a
40	CTCF	chr2:63636030-63636094	GM20000	blood:	n/a	n/a
41	CTCF	chr2:63600167-63600215	Fibrobl	skin:	n/a	n/a
42	CTCF	chr2:63595260-63595410	HMF	breast:	n/a	n/a
43	CTCF	chr2:63636253-63636259	H1-hESC	embryonic stem cell:	n/a	n/a
44	CUX1	chr2:63605878-63606064	K562	blood:	n/a	n/a
45	E2F4	chr2:63605806-63606173	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr2:63607266-63607488	MCF10A-Er-Src	breast:	n/a	n/a
47	EP300	chr2:63591463-63591571	K562	blood:	n/a	n/a
48	FAM48A	chr2:63592938-63593027	GM12878	blood:	n/a	n/a
49	FOS	chr2:63605776-63606087	MCF10A-Er-Src	breast:	n/a	chr2:63605924-63605933 chr2:63605925-63605934 chr2:63605923-63605935
50	FOS	chr2:63610221-63610229	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:63606136-63606186	AG04449	skin:	fetal
2	chr2:63606136-63606186	Hepatocyte	liver:	n/a
3	chr2:63606136-63606186	HRPEpiC	eye:	n/a
4	chr2:63606136-63606186	RPTEC	kidney:	n/a
5	chr2:63606136-63606186	NT2-D1	testis:	n/a
6	chr2:63606136-63606186	SK-N-MC	brain:	n/a
7	chr2:63606136-63606186	HepG2	liver:	n/a
8	chr2:63606136-63606186	HAEpiC	amniotic membrane:	n/a
9	chr2:63606136-63606186	H1-hESC	embryonic stem cell:	embryo
10	chr2:63606136-63606186	MCF-7	breast:	n/a
11	chr2:63606136-63606186	GM12891	blood:	n/a
12	chr2:63606136-63606186	HEK293	kidney:	embryo
13	chr2:63606136-63606186	HCT-116	colon:	n/a
14	chr2:63606136-63606186	AG10803	skin:	n/a
15	chr2:63606136-63606186	NHDF-neo	bronchial:	n/a
16	chr2:63606136-63606186	GM06990	blood:	n/a
17	chr2:63606136-63606186	HCF	heart:	n/a
18	chr2:63606136-63606186	GM12878	blood:	n/a
19	chr2:63606136-63606186	HRE	kidney:	n/a
20	chr2:63606136-63606186	K562	blood:	n/a
21	chr2:63606136-63606186	U87	brain:	n/a
22	chr2:63606136-63606186	HMEC	breast:	n/a
23	chr2:63606136-63606186	IMR90	lung:	fetal
24	chr2:63606136-63606186	SKMC	muscle:	n/a
25	chr2:63606136-63606186	BE2_C	brain:	n/a
26	chr2:63606136-63606186	Hela-S3	cervix:	n/a
27	chr2:63606136-63606186	Jurkat	blood:	n/a
28	chr2:63606136-63606186	NHBE	bronchial:	n/a
29	chr2:63606136-63606186	ProgFib	skin:	n/a
30	chr2:63606136-63606186	SK-N-SH_RA	brain:	n/a
31	chr2:63606136-63606186	AG04450	lung:	fetal
32	chr2:63606136-63606186	PrEC	prostate:	n/a
33	chr2:63606136-63606186	HRCEpiC	kidney:	n/a
34	chr2:63606136-63606186	HPAEpiC	pulmonary alveolar:	n/a
35	chr2:63606136-63606186	SAEC	small airway:	n/a
36	chr2:63606136-63606186	HIPEpiC	eye:	n/a
37	chr2:63606136-63606186	PFSK-1	brain:	n/a
38	chr2:63606136-63606186	HUVEC	blood vessel:	n/a
39	chr2:63606136-63606186	HNPCEpiC	eye:	n/a
40	chr2:63606136-63606186	AG09319	gingival:	n/a
41	chr2:63606136-63606186	LNCaP	prostate:	n/a
42	chr2:63606136-63606186	ovcar-3	ovarian:	n/a
43	chr2:63606136-63606186	MCF10A-Er-Src	breast:	n/a
44	chr2:63606136-63606186	CMK	blood:	n/a
45	chr2:63606136-63606186	NH-A	brain:	n/a
46	chr2:63606136-63606186	GM19239	blood:	n/a
47	chr2:63606136-63606186	PANC-1	pancreas:	n/a
48	chr2:63606136-63606186	A549	lung:	n/a
49	chr2:63606136-63606186	BJ	skin:	n/a
50	chr2:63606136-63606186	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:63604162..63606247-chr2:63607052..63609917,2	K562	blood:
2	chr2:63574920..63576944-chr2:63604308..63606529,2	K562	blood:
3	chr2:63603673..63606325-chr2:63611148..63612797,2	K562	blood:
4	chr2:63603673..63606325-chr2:63611148..63612797,2	K562	blood:

No data

Variant related genes	Relation type
WDPCP	TF binding region
WDPCP	CpG island
ENSG00000143951	chromatin interactions

Extended variants
information (count: 2038 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2038 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561171225	chr2:63584856-63584857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1120154	chr2:63584875-63584876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185211717	chr2:63584909-63584910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530408748	chr2:63584921-63584922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77514837	chr2:63584934-63584935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544082560	chr2:63584949-63584950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191058527	chr2:63584976-63584977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34329193	chr2:63585046-63585047	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs181804709	chr2:63585135-63585136	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs186417101	chr2:63585197-63585198	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs371063667	chr2:63585240-63585241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577688259	chr2:63585279-63585280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12988024	chr2:63585304-63585305	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs192065979	chr2:63585308-63585309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530758505	chr2:63585314-63585315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549237567	chr2:63585337-63585338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560755386	chr2:63585351-63585352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77582805	chr2:63585370-63585371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546589067	chr2:63585382-63585383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80100852	chr2:63585414-63585415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557575967	chr2:63585445-63585446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552266850	chr2:63585458-63585459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144056330	chr2:63585548-63585549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114452405	chr2:63585608-63585609	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183330631	chr2:63585651-63585652	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs386646713	chr2:63585653-63585654	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188388555	chr2:63585746-63585747	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575956902	chr2:63585766-63585767	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368174114	chr2:63585841-63585842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191031987	chr2:63585870-63585871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371597840	chr2:63585894-63585895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565785080	chr2:63585913-63585914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573963440	chr2:63585918-63585919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534719527	chr2:63585954-63585955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182270281	chr2:63585966-63585967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577727146	chr2:63585994-63585995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545475710	chr2:63585997-63585998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186469593	chr2:63586035-63586036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575379234	chr2:63586158-63586159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542423413	chr2:63586166-63586167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192530401	chr2:63586194-63586195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570731944	chr2:63586248-63586249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370211596	chr2:63586249-63586250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147332352	chr2:63586324-63586325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374807551	chr2:63586335-63586336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140873758	chr2:63586342-63586343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564862956	chr2:63586409-63586410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149828397	chr2:63586426-63586427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116492632	chr2:63586461-63586462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368874201	chr2:63586597-63586598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63567800-63585600	Weak transcription	Gastric	stomach
2	chr2:63572000-63624000	Weak transcription	Left Ventricle	heart
3	chr2:63572800-63597000	Weak transcription	Dnd41	blood
4	chr2:63581000-63596400	Weak transcription	Aorta	Aorta
5	chr2:63581400-63622000	Weak transcription	Ovary	ovary
6	chr2:63584200-63585000	Weak transcription	Adipose Nuclei	Adipose
7	chr2:63584200-63621800	Weak transcription	Primary B cells from cord blood	blood
8	chr2:63584400-63605400	Weak transcription	Primary T cells from cord blood	blood
9	chr2:63585000-63585200	ZNF genes & repeats	Brain Hippocampus Middle	brain
10	chr2:63585000-63586000	Strong transcription	Adipose Nuclei	Adipose
11	chr2:63585000-63604200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:63585200-63585600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:63585200-63601000	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:63585400-63586400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:63585400-63596000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:63585600-63585800	Enhancers	Gastric	stomach
17	chr2:63585800-63586000	Weak transcription	Gastric	stomach
18	chr2:63586000-63596800	Weak transcription	Adipose Nuclei	Adipose
19	chr2:63586400-63596200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:63589600-63590000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:63592000-63592200	Enhancers	Fetal Heart	heart
22	chr2:63592000-63592400	Enhancers	HepG2	liver
23	chr2:63592200-63592400	Enhancers	Fetal Lung	lung
24	chr2:63592400-63596400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:63592400-63596800	Weak transcription	Fetal Lung	lung
26	chr2:63593800-63599400	Weak transcription	Fetal Heart	heart
27	chr2:63595000-63612200	Weak transcription	HSMM	muscle
28	chr2:63595200-63631200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:63596000-63596800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:63596200-63596400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:63596200-63599400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr2:63596200-63600800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:63596400-63596600	ZNF genes & repeats	Aorta	Aorta
34	chr2:63596400-63597400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr2:63596800-63597000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:63596800-63597800	ZNF genes & repeats	Fetal Lung	lung
37	chr2:63596800-63599200	ZNF genes & repeats	Adipose Nuclei	Adipose
38	chr2:63597200-63597600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:63597800-63599200	Weak transcription	Gastric	stomach
40	chr2:63597800-63649200	Weak transcription	Fetal Lung	lung
41	chr2:63598000-63611000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:63598200-63598800	ZNF genes & repeats	Dnd41	blood
43	chr2:63598400-63599000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:63598400-63599200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:63598800-63599200	Weak transcription	Pancreas	Pancrea
46	chr2:63598800-63605400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:63598800-63631200	Weak transcription	Dnd41	blood
48	chr2:63599000-63599800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:63599000-63631000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:63599200-63599400	ZNF genes & repeats	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links