Variant report

Variant	nsv962064
Chromosome Location	chr2:40323393-40328838
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr2:40323608-40323787	HepG2	liver:	n/a	n/a
2	CEBPB	chr2:40324745-40325354	A549	lung:	n/a	n/a
3	CEBPB	chr2:40324907-40325147	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr2:40324645-40325431	IMR90	lung:	n/a	n/a
5	CEBPB	chr2:40324858-40325242	A549	lung:	n/a	n/a
6	CEBPB	chr2:40326107-40326546	IMR90	lung:	n/a	n/a
7	CEBPB	chr2:40324822-40325151	A549	lung:	n/a	n/a
8	CTCF	chr2:40323680-40323830	NHDF-neo	bronchial:	n/a	n/a
9	E2F4	chr2:40323553-40323690	MCF10A-Er-Src	breast:	n/a	n/a
10	EBF1	chr2:40328213-40328461	GM12878	blood:	n/a	chr2:40328336-40328347 chr2:40328338-40328347
11	EBF1	chr2:40328094-40328703	GM12878	blood:	n/a	chr2:40328336-40328347 chr2:40328338-40328347
12	EP300	chr2:40323301-40324038	SK-N-SH	brain:	n/a	chr2:40323692-40323701 chr2:40323691-40323700
13	FOS	chr2:40326198-40326533	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr2:40324895-40325480	MCF10A-Er-Src	breast:	n/a	chr2:40325296-40325307
15	FOS	chr2:40326157-40326622	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr2:40324923-40325415	MCF10A-Er-Src	breast:	n/a	chr2:40325296-40325307
17	FOS	chr2:40324116-40324442	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr2:40323552-40323841	MCF10A-Er-Src	breast:	n/a	chr2:40323691-40323700 chr2:40323690-40323701 chr2:40323693-40323700 chr2:40323692-40323700 chr2:40323692-40323701 chr2:40323695-40323707
19	FOS	chr2:40326125-40326633	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr2:40323513-40323934	HUVEC	blood vessel:	n/a	chr2:40323691-40323700 chr2:40323690-40323701 chr2:40323693-40323700 chr2:40323692-40323700 chr2:40323692-40323701 chr2:40323695-40323707
21	FOS	chr2:40324862-40325496	MCF10A-Er-Src	breast:	n/a	chr2:40325296-40325307
22	FOS	chr2:40323530-40323886	MCF10A-Er-Src	breast:	n/a	chr2:40323691-40323700 chr2:40323690-40323701 chr2:40323693-40323700 chr2:40323692-40323700 chr2:40323692-40323701 chr2:40323695-40323707
23	FOS	chr2:40326236-40326582	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr2:40323471-40323876	MCF10A-Er-Src	breast:	n/a	chr2:40323691-40323700 chr2:40323690-40323701 chr2:40323693-40323700 chr2:40323692-40323700 chr2:40323692-40323701 chr2:40323695-40323707
25	FOS	chr2:40324866-40325530	MCF10A-Er-Src	breast:	n/a	chr2:40325296-40325307
26	FOS	chr2:40323478-40323871	MCF10A-Er-Src	breast:	n/a	chr2:40323691-40323700 chr2:40323690-40323701 chr2:40323693-40323700 chr2:40323692-40323700 chr2:40323692-40323701 chr2:40323695-40323707
27	FOSL2	chr2:40323339-40324045	SK-N-SH	brain:	n/a	chr2:40323691-40323700 chr2:40323693-40323700 chr2:40323692-40323700 chr2:40323692-40323701 chr2:40323695-40323707
28	FOSL2	chr2:40323573-40323905	MCF-7	breast:	n/a	chr2:40323691-40323700 chr2:40323693-40323700 chr2:40323692-40323700 chr2:40323692-40323701 chr2:40323695-40323707
29	FOSL2	chr2:40324871-40325599	A549	lung:	n/a	chr2:40325296-40325307
30	FOSL2	chr2:40323401-40323954	A549	lung:	n/a	chr2:40323691-40323700 chr2:40323693-40323700 chr2:40323692-40323700 chr2:40323692-40323701 chr2:40323695-40323707
31	FOSL2	chr2:40323500-40323810	A549	lung:	n/a	chr2:40323691-40323700 chr2:40323693-40323700 chr2:40323692-40323700 chr2:40323692-40323701 chr2:40323695-40323707
32	FOXA1	chr2:40323516-40323723	T-47D	breast:	n/a	n/a
33	FOXA2	chr2:40323404-40323925	A549	lung:	n/a	n/a
34	FOXA2	chr2:40324911-40325627	A549	lung:	n/a	chr2:40325117-40325129
35	GATA2	chr2:40328443-40328763	SH-SY5Y	brain:	n/a	n/a
36	GATA2	chr2:40323356-40323836	HUVEC	blood vessel:	n/a	n/a
37	GATA3	chr2:40328140-40329006	SK-N-SH	brain:	n/a	n/a
38	GATA3	chr2:40323354-40323960	SK-N-SH	brain:	n/a	n/a
39	GATA3	chr2:40323271-40324091	SK-N-SH	brain:	n/a	n/a
40	GATA3	chr2:40324823-40325648	SK-N-SH	brain:	n/a	n/a
41	GATA3	chr2:40328434-40328835	SH-SY5Y	brain:	n/a	n/a
42	GATA3	chr2:40324746-40325468	A549	lung:	n/a	n/a
43	JUN	chr2:40323570-40323898	HUVEC	blood vessel:	n/a	chr2:40323691-40323700 chr2:40323693-40323700 chr2:40323692-40323700 chr2:40323692-40323701 chr2:40323695-40323707
44	JUND	chr2:40323375-40324039	SK-N-SH	brain:	n/a	chr2:40323691-40323700 chr2:40323693-40323700 chr2:40323692-40323700 chr2:40323690-40323701 chr2:40323692-40323701 chr2:40323695-40323707
45	JUND	chr2:40323546-40323837	HepG2	liver:	n/a	chr2:40323691-40323700 chr2:40323693-40323700 chr2:40323692-40323700 chr2:40323690-40323701 chr2:40323692-40323701 chr2:40323695-40323707
46	JUND	chr2:40323574-40323864	Hela-S3	cervix:	n/a	chr2:40323691-40323700 chr2:40323693-40323700 chr2:40323692-40323700 chr2:40323690-40323701 chr2:40323692-40323701 chr2:40323695-40323707
47	JUND	chr2:40323746-40323771	H1-hESC	embryonic stem cell:	n/a	n/a
48	KAP1	chr2:40328294-40328569	U2OS	brain:	n/a	n/a
49	MAFK	chr2:40324914-40325389	IMR90	lung:	n/a	n/a
50	MAFK	chr2:40324861-40324877	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40322332..40325510-chr2:40329886..40332730,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC8A1-1	chr2:40324916-40328505	NONHSAT070272
2	lnc-TMEM178-2	chr2:40328301-40328397	ENSG00000227028.2

Variant related genes	Relation type
SLC8A1-AS1	TF binding region
ENSG00000227028	chromatin interactions

Extended variants
information (count: 220 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:220 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531870777	chr2:40323393-40323394	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs4952438	chr2:40323399-40323400	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs568416843	chr2:40323436-40323437	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs373633625	chr2:40323438-40323439	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs140943573	chr2:40323454-40323455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554280493	chr2:40323478-40323479	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs35880118	chr2:40323486-40323487	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs566034842	chr2:40323554-40323555	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs367845799	chr2:40323679-40323680	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs557969315	chr2:40323687-40323688	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs576420244	chr2:40323705-40323706	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs537313280	chr2:40323764-40323765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182731166	chr2:40323797-40323798	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs573542551	chr2:40323802-40323803	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149479723	chr2:40323804-40323805	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs540661049	chr2:40323817-40323818	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs559446740	chr2:40323835-40323836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs577297467	chr2:40323863-40323864	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs13432990	chr2:40323864-40323865	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs564307713	chr2:40323897-40323898	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs145032048	chr2:40323930-40323931	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs376001179	chr2:40323931-40323932	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs556524158	chr2:40323946-40323947	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs550404689	chr2:40323963-40323964	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs142226998	chr2:40323967-40323968	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs562234101	chr2:40323981-40323982	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs575013318	chr2:40324010-40324011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs368045985	chr2:40324015-40324016	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs78214994	chr2:40324016-40324017	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs529168265	chr2:40324083-40324084	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539121573	chr2:40324109-40324110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs566209822	chr2:40324123-40324124	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs539907587	chr2:40324147-40324148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs111890463	chr2:40324168-40324169	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs56925451	chr2:40324183-40324184	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs73924702	chr2:40324240-40324241	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs569069948	chr2:40324251-40324252	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs188253968	chr2:40324275-40324276	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs58491675	chr2:40324285-40324286	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs140338028	chr2:40324286-40324287	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs60702651	chr2:40324312-40324313	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs34617830	chr2:40324317-40324318	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs371434143	chr2:40324405-40324406	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs577336487	chr2:40324431-40324432	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs138079731	chr2:40324435-40324436	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs71919196	chr2:40324469-40324470	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs376385462	chr2:40324471-40324472	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571694639	chr2:40324530-40324531	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs564344413	chr2:40324537-40324538	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs576268297	chr2:40324539-40324540	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40320000-40325600	Enhancers	HSMMtube	muscle
2	chr2:40320000-40325800	Enhancers	NHLF	lung
3	chr2:40320000-40326600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:40320000-40332200	Enhancers	HSMM	muscle
5	chr2:40320000-40332600	Enhancers	NHDF-Ad	bronchial
6	chr2:40320200-40325000	Enhancers	Fetal Heart	heart
7	chr2:40320600-40323800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:40321000-40326000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:40321200-40323400	Weak transcription	Fetal Intestine Small	intestine
10	chr2:40321200-40326400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:40321200-40327600	Weak transcription	Fetal Intestine Large	intestine
12	chr2:40321200-40354600	Weak transcription	Right Ventricle	heart
13	chr2:40321400-40324200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:40321400-40327000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:40321600-40325200	Enhancers	NHEK	skin
16	chr2:40321800-40324800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:40321800-40325200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:40321800-40325600	Enhancers	HMEC	breast
19	chr2:40322000-40324200	Enhancers	HUVEC	blood vessel
20	chr2:40322000-40324800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:40322000-40325400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:40322000-40330200	Enhancers	NH-A	brain
23	chr2:40322200-40323400	Weak transcription	Osteobl	bone
24	chr2:40322200-40324600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:40322200-40330200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:40322400-40324800	Enhancers	A549	lung
27	chr2:40322400-40329600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:40322600-40323400	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:40322600-40323600	Enhancers	Stomach Mucosa	stomach
30	chr2:40322600-40323800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:40322600-40330200	Weak transcription	Hela-S3	cervix
32	chr2:40322800-40329600	Weak transcription	Fetal Lung	lung
33	chr2:40322800-40350200	Weak transcription	Fetal Brain Male	brain
34	chr2:40323000-40323800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr2:40323000-40324600	Weak transcription	Dnd41	blood
36	chr2:40323200-40323400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:40323200-40323400	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr2:40323200-40324400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:40323400-40323600	Enhancers	Colon Smooth Muscle	Colon
40	chr2:40323400-40323600	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr2:40323400-40324000	Enhancers	Fetal Intestine Small	intestine
42	chr2:40323400-40324000	Enhancers	Ovary	ovary
43	chr2:40323400-40327200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:40323400-40328000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:40323400-40332600	Enhancers	Osteobl	bone
46	chr2:40323600-40330000	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:40323800-40324600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:40323800-40326400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:40324000-40328800	Weak transcription	Ovary	ovary
50	chr2:40324400-40324800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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