Variant report

Variant	esv3453204
Chromosome Location	chr1:246394029-246399427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:246389393..246391368-chr1:246392967..246395959,3	K562	blood:
2	chr1:246391990..246394704-chr1:246397912..246399430,2	K562	blood:
3	chr1:246391990..246394704-chr1:246397912..246399430,2	K562	blood:
4	chr1:246385164..246386821-chr1:246393908..246395594,2	K562	blood:
5	chr1:246389393..246391368-chr1:246392967..246394891,2	K562	blood:
6	chr1:246392871..246395828-chr1:246399439..246401491,2	K562	blood:

Extended variants
information (count: 394 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114581054	chr1:246394098-246394099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150172080	chr1:246394107-246394108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530265165	chr1:246394114-246394115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138625393	chr1:246394163-246394164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367736496	chr1:246394167-246394168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386641696	chr1:246394175-246394176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12088464	chr1:246394176-246394177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs184589485	chr1:246394211-246394212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10924577	chr1:246394232-246394233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs10924578	chr1:246394256-246394257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs548425182	chr1:246394260-246394261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149299727	chr1:246394287-246394288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10924579	chr1:246394320-246394321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553964962	chr1:246394373-246394374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72774472	chr1:246394382-246394383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs144522476	chr1:246394420-246394421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72774473	chr1:246394430-246394431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551290402	chr1:246394437-246394438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78442404	chr1:246394475-246394476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575981922	chr1:246394485-246394486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541794347	chr1:246394510-246394511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561486434	chr1:246394605-246394606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187056992	chr1:246394606-246394607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4347178	chr1:246394608-246394609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs560279053	chr1:246394636-246394637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4330890	chr1:246394653-246394654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568187056	chr1:246394657-246394658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552620924	chr1:246394690-246394691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10924580	chr1:246394697-246394698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs553708368	chr1:246394730-246394731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531646521	chr1:246394741-246394742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572651717	chr1:246394746-246394747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548557393	chr1:246394751-246394752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568573541	chr1:246394754-246394755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527747681	chr1:246394756-246394757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547630448	chr1:246394791-246394792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192864945	chr1:246394800-246394801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12047380	chr1:246394817-246394818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs558107785	chr1:246394858-246394859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370904860	chr1:246394899-246394900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569923879	chr1:246394910-246394911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535107470	chr1:246394969-246394970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10924581	chr1:246394970-246394971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs35551031	chr1:246395007-246395008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548772795	chr1:246395052-246395053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184900998	chr1:246395054-246395055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12058843	chr1:246395076-246395077	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs557408338	chr1:246395081-246395082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577396866	chr1:246395089-246395090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546367050	chr1:246395105-246395106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	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
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246384000-246403800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:246390000-246395000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:246392800-246395200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:246393200-246403200	Weak transcription	Left Ventricle	heart
5	chr1:246395000-246395400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr1:246395000-246395800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:246395200-246395400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:246395400-246395600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:246395600-246395800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:246395800-246398800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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