Variant report

Variant	esv3453762
Chromosome Location	chr1:224064139-224064608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224063820..224066455-chr1:224070379..224072043,2	K562	blood:
2	chr1:224051052..224053013-chr1:224064265..224066927,2	K562	blood:
3	chr1:224033263..224035344-chr1:224063361..224065777,2	MCF-7	breast:
4	chr1:224032494..224036254-chr1:224057433..224064259,8	K562	blood:

Variant related genes	Relation type
ENSG00000143514	chromatin interactions
ENSG00000188460	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141265754	chr1:224064164-224064165	Bivalent/Poised TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs559266863	chr1:224064177-224064178	Bivalent/Poised TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574714301	chr1:224064191-224064192	Bivalent/Poised TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541943854	chr1:224064192-224064193	Bivalent/Poised TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs148707738	chr1:224064220-224064221	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs563416075	chr1:224064235-224064236	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs530479040	chr1:224064240-224064241	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs545487631	chr1:224064248-224064249	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs547286988	chr1:224064249-224064250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs10591742	chr1:224064250-224064251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113190569	chr1:224064267-224064268	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs376681582	chr1:224064268-224064269	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs527987755	chr1:224064269-224064270	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs568310097	chr1:224064276-224064277	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs373338596	chr1:224064282-224064283	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs529483669	chr1:224064287-224064288	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs77438766	chr1:224064290-224064291	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs571070448	chr1:224064294-224064295	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs550618327	chr1:224064296-224064297	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs569010769	chr1:224064303-224064304	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs567263076	chr1:224064307-224064308	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs139651742	chr1:224064309-224064310	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs539791720	chr1:224064318-224064319	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs372863930	chr1:224064321-224064322	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs377216903	chr1:224064323-224064324	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs139307768	chr1:224064334-224064335	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs201382904	chr1:224064336-224064337	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs200001097	chr1:224064338-224064339	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs111726189	chr1:224064344-224064345	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs192076041	chr1:224064345-224064346	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs35606262	chr1:224064361-224064362	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs538473345	chr1:224064363-224064364	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs574677136	chr1:224064364-224064365	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs111980641	chr1:224064371-224064372	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs35170221	chr1:224064388-224064389	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs139964135	chr1:224064390-224064391	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs538316745	chr1:224064391-224064392	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs35857885	chr1:224064398-224064399	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs190990753	chr1:224064402-224064403	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs35602878	chr1:224064403-224064404	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs182068544	chr1:224064404-224064405	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs35639954	chr1:224064405-224064406	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs112070371	chr1:224064406-224064407	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs142654507	chr1:224064418-224064419	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs34282890	chr1:224064434-224064435	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs61823613	chr1:224064443-224064444	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs528132474	chr1:224064452-224064453	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs72751605	chr1:224064460-224064461	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs370521674	chr1:224064487-224064488	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs112521067	chr1:224064497-224064498	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
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
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
Breast cancer	17603634	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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224063800-224064200	ZNF genes & repeats	K562	blood
2	chr1:224064000-224064200	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
3	chr1:224064000-224064200	Enhancers	NHEK	skin
4	chr1:224064200-224074400	Weak transcription	K562	blood

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