Variant report

Variant	nsv947297
Chromosome Location	chr1:102172433-102179644
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:102167808..102170688-chr1:102173598..102175511,2	K562	blood:

Extended variants
information (count: 300 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:300 , 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	rs541916273	chr1:102172482-102172483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560339136	chr1:102172489-102172490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368123772	chr1:102172492-102172493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572286454	chr1:102172526-102172527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377717542	chr1:102172553-102172554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374743057	chr1:102172563-102172564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12409136	chr1:102172575-102172576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564646468	chr1:102172593-102172594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7523828	chr1:102172619-102172620	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs550314181	chr1:102172672-102172673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs57494873	chr1:102172712-102172713	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs529863514	chr1:102172783-102172784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548285930	chr1:102172787-102172788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539116454	chr1:102172795-102172796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72986976	chr1:102172808-102172809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs187643692	chr1:102172893-102172894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570660780	chr1:102172932-102172933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138819872	chr1:102172944-102172945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557426910	chr1:102172994-102172995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190613031	chr1:102173008-102173009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574468097	chr1:102173009-102173010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12089780	chr1:102173025-102173026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553863714	chr1:102173026-102173027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183369662	chr1:102173043-102173044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546083085	chr1:102173093-102173094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142006777	chr1:102173105-102173106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188651562	chr1:102173121-102173122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145717285	chr1:102173131-102173132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544094308	chr1:102173132-102173133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528897816	chr1:102173135-102173136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565282852	chr1:102173151-102173152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35984649	chr1:102173152-102173153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376378697	chr1:102173157-102173158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529698976	chr1:102173172-102173173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575153474	chr1:102173231-102173232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541815102	chr1:102173248-102173249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74106239	chr1:102173250-102173251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192764165	chr1:102173364-102173365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536833154	chr1:102173385-102173386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184473020	chr1:102173390-102173391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116369888	chr1:102173462-102173463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531534473	chr1:102173487-102173488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555267921	chr1:102173489-102173490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573569119	chr1:102173517-102173518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115773117	chr1:102173545-102173546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535477917	chr1:102173549-102173550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535030955	chr1:102173621-102173622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187811286	chr1:102173635-102173636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs137998348	chr1:102173652-102173653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116196791	chr1:102173660-102173661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	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
Ewing''s sarcoma	17952124	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
low-grade B-cell lymphoma tumor	18367492	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
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102171200-102172800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:102172400-102178000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:102175000-102175200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:102175200-102179000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:102178000-102178200	Enhancers	H9 Cell Line	embryonic stem cell
6	chr1:102178000-102178200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:102178000-102178200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:102178200-102178800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr1:102178400-102178800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
10	chr1:102178400-102180200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:102178400-102181000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:102178600-102179000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
13	chr1:102178600-102181200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:102178800-102179000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
15	chr1:102178800-102179200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:102179000-102179400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:102179000-102179800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:102179000-102180600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:102179200-102179600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr1:102179200-102179800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr1:102179400-102179600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr1:102179600-102180600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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