Variant report

Variant	nsv435907
Chromosome Location	chr1:104624988-104630301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 189 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:189 , 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	rs548182757	chr1:104626158-104626159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566686013	chr1:104626192-104626193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147194622	chr1:104626197-104626198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558244207	chr1:104626212-104626213	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539723704	chr1:104626220-104626221	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185401494	chr1:104626223-104626224	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11810951	chr1:104626248-104626249	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs556167040	chr1:104626260-104626261	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574350011	chr1:104626290-104626291	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542539330	chr1:104626304-104626305	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs67847517	chr1:104626343-104626344	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs187972577	chr1:104626381-104626382	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138124895	chr1:104626391-104626392	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546392633	chr1:104626411-104626412	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568183848	chr1:104626427-104626428	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564574195	chr1:104626432-104626433	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531797117	chr1:104626444-104626445	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200856831	chr1:104626452-104626453	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532241484	chr1:104626453-104626454	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201581965	chr1:104626457-104626458	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566283314	chr1:104626458-104626459	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75119094	chr1:104626467-104626468	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74982296	chr1:104626472-104626473	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9730227	chr1:104626477-104626478	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200882450	chr1:104626483-104626484	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529248753	chr1:104626489-104626490	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548495207	chr1:104626495-104626496	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28569155	chr1:104626509-104626510	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs539703470	chr1:104626519-104626520	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527488575	chr1:104626526-104626527	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551914918	chr1:104626527-104626528	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558086536	chr1:104626535-104626536	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576299354	chr1:104626558-104626559	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28457806	chr1:104626631-104626632	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs537994874	chr1:104626635-104626636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144566895	chr1:104626658-104626659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568084047	chr1:104626664-104626665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377642601	chr1:104626704-104626705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79432635	chr1:104626715-104626716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113410586	chr1:104626725-104626726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs80225959	chr1:104626726-104626727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572730283	chr1:104626747-104626748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531620524	chr1:104626783-104626784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2316920	chr1:104626794-104626795	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs558428995	chr1:104626805-104626806	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs71734805	chr1:104626819-104626820	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs576706742	chr1:104626826-104626827	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs372428701	chr1:104626827-104626828	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs3056888	chr1:104626828-104626829	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs370160894	chr1:104626887-104626888	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104626000-104627000	Enhancers	Fetal Heart	heart
2	chr1:104626200-104626600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:104626200-104626600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
4	chr1:104626600-104627400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:104626600-104627600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:104626800-104627200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr1:104626800-104627600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:104626800-104627600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:104626800-104627600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:104626800-104627600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:104626800-104627600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:104626800-104627600	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:104626800-104628400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:104626800-104629000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:104627400-104627800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:104627600-104634600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:104627600-104634600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:104627800-104628000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:104628000-104634600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:104628400-104634600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:104629000-104634600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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