Variant report

Variant	nsv873901
Chromosome Location	chr2:40207338-40264861
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:254)
CpG islands
(count:62)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:40217162-40217725	K562	blood:	n/a	n/a
2	ATF1	chr2:40222613-40222712	K562	blood:	n/a	n/a
3	ATF1	chr2:40223765-40224372	K562	blood:	n/a	n/a
4	BACH1	chr2:40208471-40208655	H1-hESC	embryonic stem cell:	n/a	n/a
5	CBX3	chr2:40223784-40224393	HCT-116	colon:	n/a	n/a
6	CCNT2	chr2:40224014-40224213	K562	blood:	n/a	n/a
7	CEBPB	chr2:40258083-40258389	HepG2	liver:	n/a	chr2:40258206-40258217
8	CEBPB	chr2:40218529-40218785	HepG2	liver:	n/a	chr2:40218674-40218685
9	CEBPB	chr2:40223865-40224375	HCT-116	colon:	n/a	n/a
10	CEBPB	chr2:40223962-40224177	A549	lung:	n/a	n/a
11	CEBPB	chr2:40243703-40243880	A549	lung:	n/a	chr2:40243790-40243803 chr2:40243792-40243803
12	CEBPB	chr2:40218547-40218785	A549	lung:	n/a	chr2:40218674-40218685
13	CEBPB	chr2:40223679-40224438	HCT-116	colon:	n/a	n/a
14	CEBPB	chr2:40258041-40258398	IMR90	lung:	n/a	chr2:40258206-40258217
15	CEBPB	chr2:40223859-40224267	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr2:40243495-40243987	IMR90	lung:	n/a	chr2:40243790-40243803 chr2:40243792-40243803
17	CEBPB	chr2:40218557-40218771	H1-hESC	embryonic stem cell:	n/a	chr2:40218674-40218685
18	CEBPB	chr2:40218494-40218859	IMR90	lung:	n/a	chr2:40218674-40218685
19	CEBPB	chr2:40259963-40260548	IMR90	lung:	n/a	n/a
20	CEBPB	chr2:40223752-40224243	IMR90	lung:	n/a	n/a
21	CEBPB	chr2:40258067-40258360	K562	blood:	n/a	chr2:40258206-40258217
22	CEBPB	chr2:40258064-40258380	A549	lung:	n/a	chr2:40258206-40258217
23	CEBPB	chr2:40221391-40221660	IMR90	lung:	n/a	n/a
24	CHD2	chr2:40223919-40224266	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr2:40228397-40228552	K562	blood:	n/a	n/a
26	CTCF	chr2:40235300-40235450	HepG2	liver:	n/a	n/a
27	CTCF	chr2:40235320-40235470	GM12871	blood:	n/a	n/a
28	CTCF	chr2:40232502-40232612	Fibrobl	skin:	n/a	n/a
29	CTCF	chr2:40216520-40216670	HMEC	breast:	n/a	n/a
30	CTCF	chr2:40228393-40228521	K562	blood:	n/a	n/a
31	CTCF	chr2:40235360-40235510	MCF-7	breast:	n/a	n/a
32	CTCF	chr2:40216540-40216690	NHEK	skin:	n/a	n/a
33	CTCF	chr2:40235280-40235430	HPAF	blood vessel:	n/a	n/a
34	CTCF	chr2:40235240-40235390	GM12872	blood:	n/a	n/a
35	CTCF	chr2:40221517-40221568	GM10248	blood:	n/a	n/a
36	CTCF	chr2:40235360-40235510	HRE	kidney:	n/a	n/a
37	CTCF	chr2:40235260-40235410	GM12865	blood:	n/a	n/a
38	CTCF	chr2:40250840-40250990	GM12868	blood:	n/a	n/a
39	CTCF	chr2:40235340-40235490	HEK293	kidney:	n/a	n/a
40	CTCF	chr2:40216640-40216790	HRE	kidney:	n/a	n/a
41	CTCF	chr2:40235320-40235470	HCT-116	colon:	n/a	n/a
42	CTCF	chr2:40227306-40227339	Lung_OC	lung:	n/a	n/a
43	CTCF	chr2:40216561-40216700	NHEK	skin:	n/a	n/a
44	CTCF	chr2:40261440-40261590	HMF	breast:	n/a	n/a
45	CTCF	chr2:40235320-40235470	BE2_C	brain:	n/a	n/a
46	CTCF	chr2:40235362-40235412	MCF-7	breast:	n/a	n/a
47	E2F4	chr2:40228942-40229085	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr2:40221356-40221590	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr2:40219163-40219186	MCF10A-Er-Src	breast:	n/a	n/a
50	EP300	chr2:40208841-40209469	SK-N-SH_RA	brain:	n/a	chr2:40209230-40209240

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:40260498-40260548	ECC-1	luminal epithelium:	n/a
2	chr2:40260498-40260548	ECC-1	luminal epithelium:	n/a
3	chr2:40260498-40260548	AG09319	gingival:	n/a
4	chr2:40260498-40260548	HIPEpiC	eye:	n/a
5	chr2:40260498-40260548	AG04449	skin:	fetal
6	chr2:40260498-40260548	SK-N-SH_RA	brain:	n/a
7	chr2:40260498-40260548	A549	lung:	n/a
8	chr2:40260498-40260548	NHBE	bronchial:	n/a
9	chr2:40260498-40260548	U87	brain:	n/a
10	chr2:40260498-40260548	HCM	heart:	n/a
11	chr2:40260498-40260548	HEK293	kidney:	embryo
12	chr2:40260498-40260548	ovcar-3	ovarian:	n/a
13	chr2:40260498-40260548	HEEpiC	esophagus:	n/a
14	chr2:40260498-40260548	NH-A	brain:	n/a
15	chr2:40260498-40260548	AG04450	lung:	fetal
16	chr2:40260498-40260548	HCF	heart:	n/a
17	chr2:40260498-40260548	HCT-116	colon:	n/a
18	chr2:40260498-40260548	PANC-1	pancreas:	n/a
19	chr2:40260498-40260548	GM06990	blood:	n/a
20	chr2:40260498-40260548	AG10803	skin:	n/a
21	chr2:40260498-40260548	PrEC	prostate:	n/a
22	chr2:40260498-40260548	Hela-S3	cervix:	n/a
23	chr2:40260498-40260548	HRCEpiC	kidney:	n/a
24	chr2:40260498-40260548	GM19239	blood:	n/a
25	chr2:40260498-40260548	GM12878	blood:	n/a
26	chr2:40260498-40260548	T-47D	breast:	n/a
27	chr2:40260498-40260548	MCF-7	breast:	n/a
28	chr2:40260498-40260548	H1-hESC	embryonic stem cell:	embryo
29	chr2:40260498-40260548	HMEC	breast:	n/a
30	chr2:40260498-40260548	HAEpiC	amniotic membrane:	n/a
31	chr2:40260498-40260548	GM12892	blood:	n/a
32	chr2:40260498-40260548	Caco-2	colon:	n/a
33	chr2:40260498-40260548	CMK	blood:	n/a
34	chr2:40260498-40260548	NHDF-neo	bronchial:	n/a
35	chr2:40260498-40260548	SK-N-SH	brain:	n/a
36	chr2:40260498-40260548	HPAEpiC	pulmonary alveolar:	n/a
37	chr2:40260498-40260548	RPTEC	kidney:	n/a
38	chr2:40260498-40260548	PFSK-1	brain:	n/a
39	chr2:40260498-40260548	AG09309	skin:	n/a
40	chr2:40260498-40260548	LNCaP	prostate:	n/a
41	chr2:40260498-40260548	Hepatocyte	liver:	n/a
42	chr2:40260498-40260548	HRPEpiC	eye:	n/a
43	chr2:40260498-40260548	NT2-D1	testis:	n/a
44	chr2:40260498-40260548	HUVEC	blood vessel:	n/a
45	chr2:40260498-40260548	SK-N-MC	brain:	n/a
46	chr2:40260498-40260548	BE2_C	brain:	n/a
47	chr2:40260498-40260548	NB4	blood:	n/a
48	chr2:40260498-40260548	GM12891	blood:	n/a
49	chr2:40260498-40260548	HepG2	liver:	n/a
50	chr2:40260498-40260548	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40254887..40256636-chr2:40272268..40275019,2	K562	blood:
2	chr2:40248216..40251072-chr2:40272085..40274359,2	K562	blood:

No data

Variant related genes	Relation type
SLC8A1-AS1	TF binding region
SLC8A1-AS1	CpG island

Extended variants
information (count: 3441 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:3441 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs917969	chr2:40207338-40207339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552573352	chr2:40207375-40207376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6736124	chr2:40207383-40207384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs573322591	chr2:40207399-40207400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200714970	chr2:40207400-40207401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199515106	chr2:40207401-40207402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs66816521	chr2:40207402-40207403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78898129	chr2:40207403-40207404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3059224	chr2:40207417-40207418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556740478	chr2:40207420-40207421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117178384	chr2:40207434-40207435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141305846	chr2:40207445-40207446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113391545	chr2:40207463-40207464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528417002	chr2:40207542-40207543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572275586	chr2:40207567-40207568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546871234	chr2:40207588-40207589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184467960	chr2:40207593-40207594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563717571	chr2:40207603-40207604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575679525	chr2:40207611-40207612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6544280	chr2:40207635-40207636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs561408388	chr2:40207636-40207637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528985512	chr2:40207639-40207640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189787394	chr2:40207658-40207659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560538047	chr2:40207661-40207662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527967757	chr2:40207678-40207679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552929892	chr2:40207699-40207700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191916845	chr2:40207700-40207701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7586059	chr2:40207714-40207715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs112859775	chr2:40207722-40207723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199718217	chr2:40207737-40207738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571118788	chr2:40207742-40207743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548291212	chr2:40207767-40207768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550207834	chr2:40207792-40207793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112362559	chr2:40207807-40207808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553505067	chr2:40207808-40207809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184521175	chr2:40207811-40207812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552453769	chr2:40207825-40207826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75628422	chr2:40207830-40207831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572176659	chr2:40207841-40207842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149537481	chr2:40207870-40207871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6544281	chr2:40207872-40207873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs189081031	chr2:40207880-40207881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6544282	chr2:40207904-40207905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs554966928	chr2:40207973-40207974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114188548	chr2:40207986-40207987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370849124	chr2:40208015-40208016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540805256	chr2:40208017-40208018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374524715	chr2:40208037-40208038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560712430	chr2:40208040-40208041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527923755	chr2:40208080-40208081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:233 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40182000-40218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:40203800-40209000	Weak transcription	Fetal Stomach	stomach
3	chr2:40204600-40209000	Weak transcription	Ovary	ovary
4	chr2:40208400-40209000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:40208400-40209200	Enhancers	Stomach Smooth Muscle	stomach
6	chr2:40208400-40210000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:40208600-40209800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:40208800-40209000	Enhancers	NHDF-Ad	bronchial
9	chr2:40208800-40209200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:40208800-40209800	Enhancers	Colon Smooth Muscle	Colon
11	chr2:40209000-40209400	Enhancers	Fetal Muscle Leg	muscle
12	chr2:40209000-40209600	Enhancers	Fetal Stomach	stomach
13	chr2:40209000-40209600	Enhancers	Ovary	ovary
14	chr2:40209600-40209800	Enhancers	NHDF-Ad	bronchial
15	chr2:40216800-40218200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:40217000-40219200	Enhancers	Osteobl	bone
17	chr2:40217200-40218200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:40217200-40219400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:40217400-40217600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:40217400-40219400	Enhancers	HSMM	muscle
21	chr2:40217600-40218600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:40217800-40219000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:40217800-40219200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:40217800-40219200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:40217800-40219400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:40218000-40218400	Enhancers	HSMMtube	muscle
27	chr2:40218000-40219000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:40218000-40219400	Enhancers	NHDF-Ad	bronchial
29	chr2:40218200-40221000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:40218200-40222600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:40218400-40218800	Weak transcription	HSMMtube	muscle
32	chr2:40218400-40219000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:40218400-40225200	Weak transcription	Fetal Kidney	kidney
34	chr2:40218600-40219000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:40218600-40219000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:40218600-40220000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:40218800-40219000	Enhancers	HSMMtube	muscle
38	chr2:40218800-40219000	Enhancers	NHEK	skin
39	chr2:40219000-40220800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:40219000-40223600	Weak transcription	HSMMtube	muscle
41	chr2:40219000-40223800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:40219200-40221000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:40219200-40224400	Weak transcription	Osteobl	bone
44	chr2:40219400-40221000	Weak transcription	NHDF-Ad	bronchial
45	chr2:40219400-40221400	Weak transcription	HSMM	muscle
46	chr2:40219400-40221600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:40220600-40220800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:40220600-40221000	Weak transcription	NHEK	skin
49	chr2:40220800-40221400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:40220800-40225000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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