Variant report

Variant	esv1814906
Chromosome Location	chr1:195203931-195290169
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195211970..195213512-chr1:195217966..195220235,2	K562	blood:
2	chr1:195211970..195213512-chr1:195217966..195220235,2	K562	blood:
3	chr1:195233955..195235990-chr1:195238834..195240836,2	K562	blood:
4	chr1:195270062..195272293-chr1:195296328..195299059,2	MCF-7	breast:
5	chr1:195262020..195263706-chr1:195272247..195274831,2	K562	blood:
6	chr1:195233955..195235990-chr1:195238834..195240836,2	K562	blood:
7	chr1:195262020..195263706-chr1:195272247..195274831,2	K562	blood:
8	chr1:195236405..195237102-chr2:169335217..169335963,2	MCF-7	breast:

No data

Extended variants
information (count: 154 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142971541	chr1:195205602-195205603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs61481685	chr1:195205606-195205607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs55888087	chr1:195205607-195205608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569079861	chr1:195205622-195205623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536759511	chr1:195205654-195205655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377126248	chr1:195205659-195205660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558183227	chr1:195205696-195205697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576870316	chr1:195205713-195205714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143083985	chr1:195205744-195205745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35704624	chr1:195205758-195205759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201024792	chr1:195205784-195205785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552920238	chr1:195205787-195205788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10494723	chr1:195205881-195205882	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs79296666	chr1:195205893-195205894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181021477	chr1:195205904-195205905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12076329	chr1:195205964-195205965	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs530681480	chr1:195205995-195205996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185858116	chr1:195206043-195206044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545236233	chr1:195206056-195206057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115093808	chr1:195206083-195206084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528574764	chr1:195206089-195206090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546711976	chr1:195206103-195206104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568419100	chr1:195206139-195206140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190716437	chr1:195206146-195206147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550822613	chr1:195206162-195206163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181962363	chr1:195206188-195206189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539693468	chr1:195206194-195206195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557922993	chr1:195206213-195206214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570490037	chr1:195206214-195206215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553445996	chr1:195206221-195206222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534695059	chr1:195206285-195206286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572109258	chr1:195206304-195206305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115599880	chr1:195206316-195206317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574343436	chr1:195206362-195206363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186126118	chr1:195206387-195206388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557242940	chr1:195206391-195206392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117701047	chr1:195206433-195206434	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190452786	chr1:195206435-195206436	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564289611	chr1:195206457-195206458	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573282400	chr1:195206465-195206466	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145232186	chr1:195206466-195206467	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183028728	chr1:195206485-195206486	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561953404	chr1:195206490-195206491	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529203953	chr1:195206491-195206492	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376170276	chr1:195206492-195206493	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185834693	chr1:195206551-195206552	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116956403	chr1:195206638-195206639	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550153840	chr1:195206679-195206680	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191093863	chr1:195206722-195206723	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12024964	chr1:195206733-195206734	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:98)

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
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Ovarian neoplasms	16753589	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
Autism	21865298	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Maculopathy	22022419	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195205600-195207200	Enhancers	Fetal Heart	heart
2	chr1:195206400-195206800	Enhancers	Adipose Nuclei	Adipose
3	chr1:195206400-195206800	Enhancers	Fetal Muscle Trunk	muscle
4	chr1:195206400-195207800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:195206600-195207800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:195207400-195207600	ZNF genes & repeats	Lung	lung
7	chr1:195207400-195207800	ZNF genes & repeats	Gastric	stomach
8	chr1:195210400-195211600	Active TSS	Fetal Muscle Leg	muscle
9	chr1:195258600-195259000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:195258800-195259400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:195259000-195259400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:195259000-195259400	Enhancers	HUES64 Cell Line	embryonic stem cell

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