Variant report

Variant	esv3381460
Chromosome Location	chr1:213476429-213478577
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	chr1:213468429..213469954-chr1:213475460..213478038,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560611884	chr1:213476448-213476449	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551237155	chr1:213476519-213476520	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536420845	chr1:213476542-213476543	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186912521	chr1:213476579-213476580	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191943241	chr1:213476659-213476660	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372297459	chr1:213476673-213476674	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376024641	chr1:213476701-213476702	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140068272	chr1:213476813-213476814	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201374788	chr1:213476861-213476862	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533613317	chr1:213476920-213476921	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533471086	chr1:213476921-213476922	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570065948	chr1:213476927-213476928	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181571220	chr1:213476940-213476941	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187408268	chr1:213476952-213476953	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567699557	chr1:213477072-213477073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535095915	chr1:213477151-213477152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72745859	chr1:213477193-213477194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191826251	chr1:213477201-213477202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538579072	chr1:213477215-213477216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146944084	chr1:213477269-213477270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554412027	chr1:213477274-213477275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374154660	chr1:213477275-213477276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542258789	chr1:213477316-213477317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1187793	chr1:213477320-213477321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572882503	chr1:213477376-213477377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540287293	chr1:213477377-213477378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554817113	chr1:213477410-213477411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182341548	chr1:213477442-213477443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536960573	chr1:213477508-213477509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556877493	chr1:213477536-213477537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10716265	chr1:213477569-213477570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201004486	chr1:213477570-213477571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533519819	chr1:213477606-213477607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552109617	chr1:213477611-213477612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576384488	chr1:213477624-213477625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531226804	chr1:213477625-213477626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549426579	chr1:213477642-213477643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375390070	chr1:213477759-213477760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567634680	chr1:213477824-213477825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545381284	chr1:213477865-213477866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528593283	chr1:213477988-213477989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547043766	chr1:213478028-213478029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141871403	chr1:213478073-213478074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186650483	chr1:213478125-213478126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555115510	chr1:213478164-213478165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568860608	chr1:213478172-213478173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2359570	chr1:213478192-213478193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs554157329	chr1:213478210-213478211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371137601	chr1:213478223-213478224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539953741	chr1:213478229-213478230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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	16750200	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
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213474800-213487400	Weak transcription	Right Atrium	heart
2	chr1:213476200-213476800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:213476200-213477000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr1:213476200-213477000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr1:213476400-213476600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:213476400-213476600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:213476400-213476800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr1:213476400-213476800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr1:213476400-213476800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr1:213476400-213476800	Enhancers	HSMM	muscle
11	chr1:213476400-213477000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:213476400-213477000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:213476400-213477000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:213476400-213477000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:213476400-213477000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:213476400-213477000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:213476400-213477000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:213476400-213477000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:213476400-213477000	Enhancers	Fetal Muscle Leg	muscle
20	chr1:213476400-213477000	Enhancers	Pancreas	Pancrea
21	chr1:213476400-213477000	Enhancers	HepG2	liver
22	chr1:213476400-213477000	Enhancers	K562	blood
23	chr1:213476400-213477000	Enhancers	Osteobl	bone
24	chr1:213476600-213476800	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr1:213476600-213476800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:213476600-213477000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:213476600-213477000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr1:213476600-213477000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:213476600-213477000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:213476600-213477000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:213476800-213477000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr1:213476800-213477000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:213476800-213477000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr1:213476800-213477000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:213476800-213477000	Enhancers	HSMMtube	muscle
36	chr1:213477000-213480800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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