Variant report

Variant	nsv945274
Chromosome Location	chr1:210438114-210440537
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210424408..210427087-chr1:210436244..210439135,3	MCF-7	breast:
2	chr1:210440061..210443825-chr1:210546593..210548992,3	MCF-7	breast:
3	chr1:210436042..210438392-chr1:210545495..210547310,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200972	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376722488	chr1:210438137-210438138	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs573333666	chr1:210438190-210438191	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs187415026	chr1:210438194-210438195	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs369812231	chr1:210438238-210438239	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs534934148	chr1:210438239-210438240	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs567254607	chr1:210438253-210438254	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs536318676	chr1:210438267-210438268	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs373050060	chr1:210438309-210438310	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs192215790	chr1:210438312-210438313	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs140188781	chr1:210438328-210438329	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs115526327	chr1:210438333-210438334	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs1338294	chr1:210438452-210438453	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575276132	chr1:210438462-210438463	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs12562421	chr1:210438480-210438481	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs536012473	chr1:210438491-210438492	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs4639761	chr1:210438512-210438513	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs540534094	chr1:210438515-210438516	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs150257623	chr1:210438533-210438534	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs116827566	chr1:210438546-210438547	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs10863817	chr1:210438586-210438587	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs562979372	chr1:210438604-210438605	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs558425536	chr1:210438607-210438608	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs138948092	chr1:210438609-210438610	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs548530745	chr1:210438617-210438618	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs185407563	chr1:210438651-210438652	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs528350101	chr1:210438664-210438665	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs77666374	chr1:210438692-210438693	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs78099633	chr1:210438712-210438713	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs34995645	chr1:210438731-210438732	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs538819332	chr1:210438742-210438743	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs534521031	chr1:210438745-210438746	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs550528746	chr1:210438759-210438760	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs56207804	chr1:210438794-210438795	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs568905432	chr1:210438830-210438831	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs535979936	chr1:210438840-210438841	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs554509447	chr1:210438841-210438842	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs572507219	chr1:210438845-210438846	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs111717867	chr1:210438856-210438857	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs145867275	chr1:210438863-210438864	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs190649366	chr1:210438870-210438871	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs577147061	chr1:210438894-210438895	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs74156123	chr1:210438916-210438917	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs562958426	chr1:210438921-210438922	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs149549800	chr1:210438923-210438924	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs72649971	chr1:210438929-210438930	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs560617285	chr1:210438941-210438942	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs527674439	chr1:210438966-210438967	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs34739932	chr1:210438975-210438976	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs34285465	chr1:210439000-210439001	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs192304798	chr1:210439036-210439037	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210428200-210439600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:210430600-210439200	Enhancers	Fetal Stomach	stomach
3	chr1:210430800-210439600	Enhancers	Fetal Muscle Leg	muscle
4	chr1:210431600-210438200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:210433600-210439400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:210433800-210440200	Enhancers	NHDF-Ad	bronchial
7	chr1:210433800-210445400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:210434000-210438400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:210434400-210439600	Enhancers	Colon Smooth Muscle	Colon
10	chr1:210434600-210439000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:210435000-210438800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:210435000-210439200	Enhancers	HSMMtube	muscle
13	chr1:210435800-210438200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:210436400-210438400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:210436400-210438400	Weak transcription	Stomach Mucosa	stomach
16	chr1:210436400-210445800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:210436600-210438400	Enhancers	NHLF	lung
18	chr1:210436600-210438600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:210436600-210439200	Enhancers	NH-A	brain
20	chr1:210436600-210439400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:210436600-210439400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:210436600-210439400	Enhancers	Osteobl	bone
23	chr1:210436800-210439000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:210436800-210439600	Enhancers	Stomach Smooth Muscle	stomach
25	chr1:210437200-210438800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:210437200-210439600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:210437200-210439600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:210437600-210439000	Enhancers	HSMM	muscle
29	chr1:210437600-210439600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:210437800-210438200	Enhancers	Fetal Heart	heart
31	chr1:210437800-210438600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:210437800-210439000	Enhancers	H9 Cell Line	embryonic stem cell
33	chr1:210437800-210440200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:210437800-210440400	Enhancers	Placenta	Placenta
35	chr1:210438000-210438600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:210438000-210439000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr1:210438000-210439000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr1:210438000-210439600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr1:210438000-210439600	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr1:210438200-210438400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:210438200-210438400	Flanking Active TSS	Fetal Heart	heart
42	chr1:210438200-210438800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr1:210438200-210438800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr1:210438200-210439000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:210438200-210439400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
46	chr1:210438200-210439600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr1:210438400-210438600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:210438400-210438600	Enhancers	Fetal Heart	heart
49	chr1:210438400-210438600	Enhancers	Stomach Mucosa	stomach
50	chr1:210438400-210439000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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