Variant report

Variant	esv1007585
Chromosome Location	chr1:214962973-214966701
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:214961510..214963625-chr1:214964294..214966473,3	K562	blood:
2	chr1:214961510..214963625-chr1:214964294..214966473,3	K562	blood:
3	chr1:214964650..214967515-chr1:214968725..214970577,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188025887	chr1:214965030-214965031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566624337	chr1:214965085-214965086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538790991	chr1:214965088-214965089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2154119	chr1:214965101-214965102	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs373715657	chr1:214965123-214965124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2032042	chr1:214965192-214965193	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs2032043	chr1:214965235-214965236	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs112352904	chr1:214965253-214965254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554931038	chr1:214965254-214965255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575239611	chr1:214965269-214965270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191105033	chr1:214965332-214965333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553044361	chr1:214965451-214965452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1450601	chr1:214965457-214965458	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs544729644	chr1:214965467-214965468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12022628	chr1:214965475-214965476	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs12063597	chr1:214965513-214965514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544427320	chr1:214965529-214965530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374561576	chr1:214965556-214965557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182266993	chr1:214965597-214965598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562683356	chr1:214965619-214965620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75041647	chr1:214965653-214965654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546582448	chr1:214965656-214965657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560076845	chr1:214965663-214965664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142699525	chr1:214965664-214965665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1450600	chr1:214965677-214965678	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs114372394	chr1:214965739-214965740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75005876	chr1:214965762-214965763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548810029	chr1:214965784-214965785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568760293	chr1:214965791-214965792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187586349	chr1:214965864-214965865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192421865	chr1:214965883-214965884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1450599	chr1:214965896-214965897	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs1779685	chr1:214966001-214966002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560265438	chr1:214966024-214966025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558351311	chr1:214966060-214966061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34041000	chr1:214966106-214966107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34279103	chr1:214966126-214966127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185653469	chr1:214966148-214966149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544075684	chr1:214966172-214966173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145996977	chr1:214966208-214966209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574303688	chr1:214966258-214966259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549742246	chr1:214966265-214966266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540091410	chr1:214966269-214966270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139594865	chr1:214966302-214966303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560038264	chr1:214966423-214966424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532370304	chr1:214966435-214966436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190226703	chr1:214966447-214966448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149298588	chr1:214966478-214966479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531873562	chr1:214966487-214966488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144474401	chr1:214966575-214966576	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
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
Ovarian cancer	21720365	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214965000-214966600	Enhancers	Osteobl	bone
2	chr1:214965200-214965800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr1:214965200-214966000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:214965200-214967000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:214965200-214967400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:214965400-214965600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:214965400-214966400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:214965600-214966400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:214966000-214967000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:214966000-214967200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:214966400-214967200	Enhancers	Muscle Satellite Cultured Cells	--

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