Variant report

Variant	esv1813701
Chromosome Location	chr1:211369721-211372063
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211366897..211369735-chr1:211430540..211432922,2	K562	blood:
2	chr1:210545612..210547393-chr1:211371347..211373916,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117625	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550980777	chr1:211369753-211369754	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562914268	chr1:211369781-211369782	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533760339	chr1:211369802-211369803	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370601818	chr1:211369842-211369843	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545926415	chr1:211369873-211369874	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530216380	chr1:211369878-211369879	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548665854	chr1:211369890-211369891	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185859625	chr1:211369979-211369980	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188757652	chr1:211369980-211369981	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79658948	chr1:211370041-211370042	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554440214	chr1:211370056-211370057	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553520704	chr1:211370092-211370093	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147260043	chr1:211370096-211370097	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138872146	chr1:211370101-211370102	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567761990	chr1:211370160-211370161	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76044462	chr1:211370161-211370162	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553839483	chr1:211370206-211370207	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115203188	chr1:211370233-211370234	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs3125844	chr1:211370295-211370296	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs558021216	chr1:211370296-211370297	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs3125843	chr1:211370341-211370342	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs543787235	chr1:211370428-211370429	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562823780	chr1:211370435-211370436	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374063603	chr1:211370448-211370449	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530128597	chr1:211370460-211370461	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367786967	chr1:211370540-211370541	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181753945	chr1:211370550-211370551	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371293474	chr1:211370568-211370569	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527810079	chr1:211370570-211370571	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187243654	chr1:211370585-211370586	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570750799	chr1:211370591-211370592	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545344073	chr1:211370640-211370641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142799512	chr1:211370647-211370648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117980446	chr1:211370662-211370663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535444896	chr1:211370700-211370701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139187097	chr1:211370708-211370709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565754139	chr1:211370713-211370714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149949934	chr1:211370716-211370717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557983772	chr1:211370721-211370722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12066054	chr1:211370745-211370746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543700078	chr1:211370757-211370758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555716203	chr1:211370781-211370782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574715807	chr1:211370782-211370783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12076568	chr1:211370784-211370785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375596310	chr1:211370789-211370790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560317763	chr1:211370809-211370810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527775736	chr1:211370813-211370814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369534467	chr1:211370826-211370827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374587612	chr1:211370833-211370834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377726721	chr1:211370868-211370869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211366000-211371400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:211369000-211371400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:211369600-211370600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:211370200-211370400	Enhancers	NHEK	skin
5	chr1:211370400-211370600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:211370400-211370600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:211370400-211373000	Enhancers	HMEC	breast
8	chr1:211370600-211371000	Weak transcription	NHEK	skin
9	chr1:211370600-211371600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:211370800-211371200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:211371000-211372400	Enhancers	NHEK	skin
12	chr1:211371200-211371400	Enhancers	A549	lung
13	chr1:211371200-211372000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:211371400-211371800	Enhancers	HSMMtube	muscle
15	chr1:211371400-211371800	Enhancers	K562	blood
16	chr1:211371400-211372000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:211371400-211372000	Flanking Active TSS	A549	lung
18	chr1:211371400-211372000	Enhancers	NH-A	brain
19	chr1:211371400-211372200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:211371400-211372200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:211371400-211372200	Enhancers	Osteobl	bone
22	chr1:211371400-211372600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:211371400-211372600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:211371400-211373000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:211371600-211372400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:211371600-211372600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:211371600-211372600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:211372000-211372200	Enhancers	A549	lung
29	chr1:211372000-211372400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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