Variant report

Variant	nsv546639
Chromosome Location	chr1:80152599-80177947
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	chr1:80048884..80051726-chr1:80174478..80177354,2	K562	blood:

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

Extended variants
information (count: 1021 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1021 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11162790	chr1:80152599-80152600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs61768568	chr1:80152609-80152610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs561634848	chr1:80152682-80152683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532732379	chr1:80152697-80152698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372903292	chr1:80152721-80152722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551191580	chr1:80152730-80152731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112508733	chr1:80152731-80152732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11162791	chr1:80152740-80152741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs12079218	chr1:80152800-80152801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs187480470	chr1:80152826-80152827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566874665	chr1:80152836-80152837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144272985	chr1:80152913-80152914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190841989	chr1:80152918-80152919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558715028	chr1:80152935-80152936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570487653	chr1:80152969-80152970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570722306	chr1:80152979-80152980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532939823	chr1:80153018-80153019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147229023	chr1:80153094-80153095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183427641	chr1:80153127-80153128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10782693	chr1:80153142-80153143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs566729374	chr1:80153152-80153153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186644244	chr1:80153216-80153217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192534047	chr1:80153322-80153323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140618083	chr1:80153331-80153332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572082641	chr1:80153418-80153419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377543030	chr1:80153430-80153431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10735760	chr1:80153432-80153433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs575990324	chr1:80153451-80153452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149654745	chr1:80153506-80153507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12084142	chr1:80153512-80153513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs530288558	chr1:80153519-80153520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548827837	chr1:80153545-80153546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560618425	chr1:80153555-80153556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs59728700	chr1:80153556-80153557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552644442	chr1:80153593-80153594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537994797	chr1:80153637-80153638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570717040	chr1:80153662-80153663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113720527	chr1:80153668-80153669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7516055	chr1:80153691-80153692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs549638863	chr1:80153719-80153720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568044878	chr1:80153739-80153740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115706298	chr1:80153816-80153817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184405514	chr1:80153819-80153820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111799807	chr1:80153834-80153835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539112773	chr1:80153859-80153860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540200210	chr1:80153883-80153884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557841622	chr1:80153908-80153909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148841626	chr1:80153923-80153924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1524177	chr1:80153948-80153949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs188146358	chr1:80154017-80154018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80147600-80158600	Weak transcription	Gastric	stomach
2	chr1:80150400-80158600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:80154200-80154600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr1:80154400-80155000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr1:80156400-80158000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:80157600-80161200	Enhancers	Fetal Intestine Large	intestine
7	chr1:80157800-80159200	Enhancers	Pancreas	Pancrea
8	chr1:80157800-80161200	Enhancers	Fetal Intestine Small	intestine
9	chr1:80158000-80159400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:80158000-80159800	Enhancers	Stomach Mucosa	stomach
11	chr1:80158600-80158800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:80158600-80159200	Enhancers	Gastric	stomach
13	chr1:80158600-80160000	Enhancers	Fetal Muscle Leg	muscle
14	chr1:80158600-80161200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:80158800-80159600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:80159200-80159800	Enhancers	Fetal Lung	lung
17	chr1:80159200-80160400	Weak transcription	Pancreas	Pancrea
18	chr1:80159200-80160800	Weak transcription	Gastric	stomach
19	chr1:80159400-80159600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:80159600-80159800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:80159600-80161400	Enhancers	Fetal Kidney	kidney
22	chr1:80159600-80161600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:80159800-80160600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:80159800-80160800	Weak transcription	Stomach Mucosa	stomach
25	chr1:80160200-80160800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:80160600-80160800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr1:80160600-80160800	Enhancers	Pancreas	Pancrea
28	chr1:80160600-80161000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:80160600-80161000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:80160600-80161000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:80160600-80161000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr1:80160800-80161000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr1:80160800-80161000	Enhancers	Gastric	stomach
34	chr1:80160800-80161000	Enhancers	Stomach Mucosa	stomach
35	chr1:80161000-80163000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:80161000-80164600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:80161200-80164600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:80161600-80161800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:80161800-80163000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:80163000-80164600	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr1:80163000-80168800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:80164600-80165000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:80164600-80165200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
44	chr1:80164600-80166600	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr1:80165000-80165800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:80165200-80168200	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr1:80165800-80166200	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr1:80165800-80166600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:80166200-80168400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr1:80166600-80168600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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