Variant report

Variant	esv3440599
Chromosome Location	chr1:195458344-195483647
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:195474802..195477777-chr1:195478958..195481457,2	K562	blood:
2	chr1:195474802..195477777-chr1:195478958..195481457,2	K562	blood:
3	chr1:195467909..195469471-chr1:195476696..195479659,2	K562	blood:
4	chr1:195467909..195469471-chr1:195476696..195479659,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CFH-1	chr1:195469301-195469368	XLOC_000511

Extended variants
information (count: 270 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377725270	chr1:195461613-195461614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs4598474	chr1:195461633-195461634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs578251919	chr1:195461669-195461670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs149292731	chr1:195461766-195461767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs548141635	chr1:195461782-195461783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs375703154	chr1:195461783-195461784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs187265518	chr1:195461884-195461885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs545143801	chr1:195461942-195461943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs191592963	chr1:195461963-195461964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs562335075	chr1:195461964-195461965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs533298843	chr1:195462002-195462003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs114357778	chr1:195462011-195462012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs566890699	chr1:195462021-195462022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs527699648	chr1:195462024-195462025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs549329758	chr1:195462028-195462029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs567961051	chr1:195462080-195462081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs371068050	chr1:195462095-195462096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs538497280	chr1:195462127-195462128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs111965480	chr1:195462171-195462172	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs183497978	chr1:195462174-195462175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs35598759	chr1:195462263-195462264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs547333701	chr1:195462273-195462274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs540353999	chr1:195462346-195462347	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs539556297	chr1:195462430-195462431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs113993559	chr1:195462436-195462437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs7542315	chr1:195462480-195462481	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs529253147	chr1:195462482-195462483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs114669444	chr1:195462521-195462522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs554902802	chr1:195462547-195462548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs574767745	chr1:195462585-195462586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs186726978	chr1:195462599-195462600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs544098139	chr1:195462603-195462604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs569485318	chr1:195462646-195462647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs137948928	chr1:195462649-195462650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs533499416	chr1:195462690-195462691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs111947624	chr1:195462747-195462748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs190302307	chr1:195462760-195462761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs142410432	chr1:195462784-195462785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs527735655	chr1:195462796-195462797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs549405996	chr1:195462811-195462812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs551996966	chr1:195462838-195462839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs182459245	chr1:195462844-195462845	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs186781374	chr1:195462881-195462882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs11812085	chr1:195462893-195462894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs550482260	chr1:195462902-195462903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs191138195	chr1:195462912-195462913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs538885356	chr1:195462939-195462940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs183962619	chr1:195462991-195462992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs566454141	chr1:195463034-195463035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs368219189	chr1:195463037-195463038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195461600-195463200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:195478200-195478400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:195478600-195480200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:195480200-195480400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:195480400-195484400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:195481200-195481600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:195481200-195481600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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