Variant report

Variant	esv1810033
Chromosome Location	chr1:221747848-221753597
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:221746909..221748850-chr1:221913979..221916326,2	MCF-7	breast:
2	chr1:221746221..221748385-chr1:221914504..221916703,2	MCF-7	breast:
3	chr1:221746709..221748888-chr1:221752322..221754674,2	K562	blood:
4	chr1:221746709..221748888-chr1:221752322..221754674,2	K562	blood:
5	chr1:221751248..221753271-chr1:221864470..221866458,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143507	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12032922	chr1:221747848-221747849	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558830655	chr1:221747910-221747911	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12039969	chr1:221747913-221747914	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs148759396	chr1:221747922-221747923	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541367193	chr1:221747949-221747950	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs559570130	chr1:221748004-221748005	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs574757062	chr1:221748057-221748058	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs75333996	chr1:221748079-221748080	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563635398	chr1:221748096-221748097	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs567672070	chr1:221748109-221748110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs59738506	chr1:221748118-221748119	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs145438296	chr1:221748146-221748147	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113646505	chr1:221748170-221748171	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs577710057	chr1:221748188-221748189	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs528632777	chr1:221748210-221748211	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs546902769	chr1:221748220-221748221	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs191997090	chr1:221748280-221748281	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535872272	chr1:221748336-221748337	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs545200339	chr1:221748359-221748360	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs556577460	chr1:221748404-221748405	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs145376737	chr1:221748514-221748515	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs953400	chr1:221748582-221748583	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs111774046	chr1:221748583-221748584	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201154613	chr1:221748617-221748618	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs5781238	chr1:221748622-221748623	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563266796	chr1:221748646-221748647	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs183807014	chr1:221748652-221748653	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs59869019	chr1:221748670-221748671	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs78313968	chr1:221748714-221748715	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375671624	chr1:221748733-221748734	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs530865085	chr1:221748764-221748765	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs574630489	chr1:221748788-221748789	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541756433	chr1:221748847-221748848	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs557358077	chr1:221748860-221748861	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs35685333	chr1:221748864-221748865	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs575211233	chr1:221748870-221748871	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs116193619	chr1:221748904-221748905	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs564206333	chr1:221748923-221748924	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs528668680	chr1:221748937-221748938	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs78566347	chr1:221749000-221749001	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs562136940	chr1:221749029-221749030	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs529635170	chr1:221749064-221749065	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs143398070	chr1:221749069-221749070	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs11118759	chr1:221749115-221749116	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs9660488	chr1:221749122-221749123	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs552317385	chr1:221749182-221749183	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs2889910	chr1:221749233-221749234	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs543040306	chr1:221749260-221749261	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs151317136	chr1:221749301-221749302	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs187649741	chr1:221749307-221749308	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	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
Liposarcoma	21253554	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	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
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221729800-221748600	Weak transcription	Left Ventricle	heart
2	chr1:221729800-221748800	Weak transcription	Pancreas	Pancrea
3	chr1:221746600-221748800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr1:221746600-221749000	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr1:221746800-221749600	Enhancers	Fetal Heart	heart
6	chr1:221747400-221748200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:221747400-221748800	Weak transcription	Psoas Muscle	Psoas
8	chr1:221747800-221748000	Enhancers	Colon Smooth Muscle	Colon
9	chr1:221747800-221748800	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:221748000-221749200	Enhancers	Rectal Smooth Muscle	rectum
11	chr1:221748000-221749400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:221748000-221750200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:221748200-221750200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:221748200-221750200	Enhancers	NH-A	brain
15	chr1:221748200-221750400	Enhancers	NHLF	lung
16	chr1:221748400-221748600	Enhancers	Fetal Lung	lung
17	chr1:221748400-221748600	Enhancers	HSMMtube	muscle
18	chr1:221748400-221749400	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:221748800-221749000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:221748800-221749000	Enhancers	Left Ventricle	heart
21	chr1:221748800-221749000	Enhancers	Pancreas	Pancrea
22	chr1:221748800-221749200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:221748800-221749200	Enhancers	Fetal Muscle Leg	muscle
24	chr1:221748800-221749200	Enhancers	Psoas Muscle	Psoas
25	chr1:221748800-221749200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr1:221749200-221749400	Enhancers	Fetal Lung	lung
27	chr1:221749200-221749400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:221749200-221749400	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr1:221749200-221749400	Enhancers	HSMMtube	muscle
30	chr1:221749400-221749800	Enhancers	Rectal Smooth Muscle	rectum
31	chr1:221749400-221750000	Enhancers	Colon Smooth Muscle	Colon
32	chr1:221749600-221750000	Enhancers	A549	lung
33	chr1:221749600-221750200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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