Variant report

Variant	esv3393619
Chromosome Location	chr1:80018980-80054975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78468665..78470165-chr1:80026349..80029039,2	K562	blood:
2	chr1:80026893..80029713-chr1:80030293..80033252,2	K562	blood:
3	chr1:80048884..80051726-chr1:80174478..80177354,2	K562	blood:
4	chr1:80026893..80029713-chr1:80030293..80033252,2	K562	blood:
5	chr1:80047758..80050486-chr1:80050910..80053801,2	MCF-7	breast:
6	chr1:80047758..80050486-chr1:80050910..80053801,2	MCF-7	breast:

Extended variants
information (count: 369 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59365143	chr1:80020405-80020406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529178436	chr1:80020532-80020533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575839540	chr1:80020613-80020614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142458779	chr1:80020650-80020651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189037118	chr1:80020673-80020674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574012449	chr1:80020674-80020675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12080324	chr1:80020691-80020692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573570431	chr1:80020717-80020718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35388785	chr1:80020722-80020723	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs569036706	chr1:80020827-80020828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554427754	chr1:80020862-80020863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538342174	chr1:80020870-80020871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551547136	chr1:80020909-80020910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571707573	chr1:80020924-80020925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370029503	chr1:80020930-80020931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34959106	chr1:80020959-80020960	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs546535894	chr1:80020998-80020999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186633358	chr1:80027026-80027027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs568459803	chr1:80027034-80027035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs527657158	chr1:80027075-80027076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs529114325	chr1:80027076-80027077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs547332254	chr1:80027080-80027081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs540815976	chr1:80027094-80027095	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs149242067	chr1:80027104-80027105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs557809223	chr1:80027126-80027127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs569622025	chr1:80027163-80027164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs192025507	chr1:80027164-80027165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs115700314	chr1:80027190-80027191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs183832860	chr1:80027195-80027196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs6692149	chr1:80027210-80027211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs377168653	chr1:80027231-80027232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs112444704	chr1:80027232-80027233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs116879492	chr1:80027233-80027234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs564727150	chr1:80027234-80027235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs11162734	chr1:80027237-80027238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs116240392	chr1:80027250-80027251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs115889215	chr1:80027257-80027258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs111249587	chr1:80027274-80027275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs34763301	chr1:80027275-80027276	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs189248407	chr1:80027279-80027280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs146919464	chr1:80027284-80027285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs551251646	chr1:80027295-80027296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs137909085	chr1:80027298-80027299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs115099430	chr1:80027308-80027309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs549110624	chr1:80027315-80027316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs112047317	chr1:80027323-80027324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs567261780	chr1:80027344-80027345	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs567406160	chr1:80027357-80027358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs143492895	chr1:80027358-80027359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs192528770	chr1:80027407-80027408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
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
Melanoma	17363583	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	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
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80020400-80021000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:80027000-80027800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr1:80038400-80041600	Enhancers	HUVEC	blood vessel
4	chr1:80050200-80051000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:80050400-80050600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr1:80050800-80051800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:80051400-80054200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:80051600-80052400	Enhancers	Psoas Muscle	Psoas
9	chr1:80051800-80052400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:80052000-80052400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:80052000-80052400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:80052000-80052800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:80052400-80052600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:80052400-80052600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:80052400-80052600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:80052400-80053800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:80052400-80053800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:80052400-80054200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:80052600-80053800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:80052600-80053800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:80052600-80053800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:80052800-80053200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:80052800-80058800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr1:80053000-80055600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:80053200-80054200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:80053600-80054400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:80053800-80054000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr1:80053800-80054800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:80053800-80056000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr1:80053800-80057600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:80053800-80058000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr1:80054000-80054200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr1:80054200-80054400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr1:80054200-80054400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:80054200-80054600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:80054200-80054800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:80054200-80055000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr1:80054400-80054600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr1:80054400-80054800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:80054600-80058200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr1:80054600-80069400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:80054800-80056600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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