Variant report

Variant	nsv546638
Chromosome Location	chr1:80131994-80353796
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:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:80236464..80239365-chr1:80242277..80244364,2	K562	blood:
2	chr1:80188934..80191207-chr1:80192005..80194869,2	MCF-7	breast:
3	chr1:80330992..80332492-chr17:59388398..59390197,2	MCF-7	breast:
4	chr1:80180559..80183508-chr1:80186192..80188064,2	K562	blood:
5	chr1:80188934..80191207-chr1:80192005..80194869,2	MCF-7	breast:
6	chr1:80048884..80051726-chr1:80174478..80177354,2	K562	blood:
7	chr1:80236464..80239365-chr1:80242277..80244364,2	K562	blood:
8	chr1:80180559..80183508-chr1:80186192..80188064,2	K562	blood:
9	chr1:80202188..80204653-chr1:80206731..80209181,2	MCF-7	breast:
10	chr1:80202188..80204653-chr1:80206731..80209181,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IFI44-8	chr1:80166026-80166380	NONHSAT004102
2	lnc-IFI44-8	chr1:80162125-80162221	NONHSAT004102

No data

Extended variants
information (count: 4190 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:4190 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11579043	chr1:80131994-80131995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74096990	chr1:80131995-80131996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114480824	chr1:80132030-80132031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536577221	chr1:80132126-80132127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555142295	chr1:80132164-80132165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188281313	chr1:80132177-80132178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540833057	chr1:80132187-80132188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111832682	chr1:80132190-80132191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145551937	chr1:80132205-80132206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192890408	chr1:80132208-80132209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111991773	chr1:80132216-80132217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138091104	chr1:80132282-80132283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115132940	chr1:80132314-80132315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114167439	chr1:80132344-80132345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527447010	chr1:80132367-80132368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75197700	chr1:80132429-80132430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570177824	chr1:80132430-80132431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149113300	chr1:80132442-80132443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535785974	chr1:80132448-80132449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143013418	chr1:80132497-80132498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148197795	chr1:80132499-80132500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78529311	chr1:80132553-80132554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77354722	chr1:80132554-80132555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554926889	chr1:80132580-80132581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567158068	chr1:80132628-80132629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12064438	chr1:80132634-80132635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559124863	chr1:80132643-80132644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141195518	chr1:80132665-80132666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189867837	chr1:80132731-80132732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147386294	chr1:80132782-80132783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138469086	chr1:80132908-80132909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115232031	chr1:80132933-80132934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374634949	chr1:80133054-80133055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10493652	chr1:80133090-80133091	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs538027714	chr1:80133093-80133094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557988293	chr1:80133135-80133136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10493651	chr1:80133186-80133187	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545663844	chr1:80133384-80133385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540238714	chr1:80133391-80133392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560077103	chr1:80133409-80133410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531303897	chr1:80133426-80133427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549507748	chr1:80133477-80133478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567825905	chr1:80133485-80133486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528839319	chr1:80133529-80133530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181509784	chr1:80133569-80133570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567022732	chr1:80133605-80133606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186157487	chr1:80133648-80133649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573688150	chr1:80133663-80133664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189355939	chr1:80133706-80133707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571094466	chr1:80133707-80133708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80130400-80135400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:80133000-80134400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr1:80133600-80134400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:80133800-80134200	Enhancers	Primary hematopoietic stem cells	blood
5	chr1:80133800-80134400	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:80135200-80135800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:80135400-80136600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:80145200-80145400	Enhancers	Gastric	stomach
9	chr1:80145600-80146000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:80147600-80158600	Weak transcription	Gastric	stomach
11	chr1:80150400-80158600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:80154200-80154600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:80154400-80155000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:80156400-80158000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:80157600-80161200	Enhancers	Fetal Intestine Large	intestine
16	chr1:80157800-80159200	Enhancers	Pancreas	Pancrea
17	chr1:80157800-80161200	Enhancers	Fetal Intestine Small	intestine
18	chr1:80158000-80159400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:80158000-80159800	Enhancers	Stomach Mucosa	stomach
20	chr1:80158600-80158800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:80158600-80159200	Enhancers	Gastric	stomach
22	chr1:80158600-80160000	Enhancers	Fetal Muscle Leg	muscle
23	chr1:80158600-80161200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:80158800-80159600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:80159200-80159800	Enhancers	Fetal Lung	lung
26	chr1:80159200-80160400	Weak transcription	Pancreas	Pancrea
27	chr1:80159200-80160800	Weak transcription	Gastric	stomach
28	chr1:80159400-80159600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:80159600-80159800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr1:80159600-80161400	Enhancers	Fetal Kidney	kidney
31	chr1:80159600-80161600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:80159800-80160600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:80159800-80160800	Weak transcription	Stomach Mucosa	stomach
34	chr1:80160200-80160800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:80160600-80160800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr1:80160600-80160800	Enhancers	Pancreas	Pancrea
37	chr1:80160600-80161000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:80160600-80161000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:80160600-80161000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:80160600-80161000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr1:80160800-80161000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr1:80160800-80161000	Enhancers	Gastric	stomach
43	chr1:80160800-80161000	Enhancers	Stomach Mucosa	stomach
44	chr1:80161000-80163000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:80161000-80164600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:80161200-80164600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:80161600-80161800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:80161800-80163000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:80163000-80164600	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr1:80163000-80168800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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