Variant report

Variant	esv3350038
Chromosome Location	chr15:45768960-45770958
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	chr15:45770928..45772641-chr15:45779670..45781462,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C15orf48-1	chr15:45769967-45771942	XLOC_011237
2	lnc-C15orf48-1	chr15:45769967-45771942	ENSG00000259354.1

Extended variants
information (count: 64 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533273082	chr15:45769055-45769056	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377623708	chr15:45769080-45769081	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549953675	chr15:45769089-45769090	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373439648	chr15:45769149-45769150	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563521330	chr15:45769212-45769213	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199943478	chr15:45769220-45769221	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77840972	chr15:45769230-45769231	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528985123	chr15:45769231-45769232	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62025209	chr15:45769233-45769234	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185493261	chr15:45769238-45769239	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565648280	chr15:45769317-45769318	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2433618	chr15:45769358-45769359	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551370606	chr15:45769370-45769371	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74775624	chr15:45769462-45769463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539791233	chr15:45769509-45769510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550490585	chr15:45769535-45769536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189915974	chr15:45769569-45769570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544231722	chr15:45769574-45769575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576264165	chr15:45769627-45769628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535925372	chr15:45769644-45769645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555553899	chr15:45769714-45769715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34921723	chr15:45769767-45769768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35938941	chr15:45769773-45769774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35304931	chr15:45769775-45769776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183256358	chr15:45769776-45769777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187720993	chr15:45769820-45769821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201791527	chr15:45769826-45769827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375077275	chr15:45769833-45769834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541027860	chr15:45769854-45769855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149391905	chr15:45769855-45769856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577995019	chr15:45769859-45769860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201326920	chr15:45769860-45769861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199649838	chr15:45769861-45769862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562489736	chr15:45769869-45769870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35527025	chr15:45769901-45769902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571780869	chr15:45769902-45769903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563454572	chr15:45769999-45770000	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs529129535	chr15:45770015-45770016	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs542828246	chr15:45770024-45770025	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs370379828	chr15:45770089-45770090	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs559149248	chr15:45770133-45770134	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs190954814	chr15:45770158-45770159	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs183991813	chr15:45770212-45770213	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs532737157	chr15:45770261-45770262	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs143763085	chr15:45770268-45770269	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs148151799	chr15:45770365-45770366	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs373791835	chr15:45770387-45770388	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs550092416	chr15:45770478-45770479	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs561476787	chr15:45770513-45770514	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs367759578	chr15:45770517-45770518	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45750800-45781000	Weak transcription	Stomach Mucosa	stomach
2	chr15:45751200-45801600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr15:45754200-45801600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:45757000-45794600	Weak transcription	Colonic Mucosa	Colon
5	chr15:45757000-45801800	Weak transcription	Gastric	stomach
6	chr15:45760800-45772800	Weak transcription	HSMMtube	muscle
7	chr15:45762000-45773800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:45763400-45777200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr15:45767200-45813600	Weak transcription	Psoas Muscle	Psoas
10	chr15:45767400-45781000	Weak transcription	Lung	lung
11	chr15:45767600-45775600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr15:45767600-45775600	Weak transcription	Esophagus	oesophagus
13	chr15:45768200-45769400	Enhancers	Fetal Intestine Large	intestine
14	chr15:45768200-45780200	Weak transcription	Fetal Stomach	stomach
15	chr15:45768400-45769400	Enhancers	Fetal Intestine Small	intestine
16	chr15:45768600-45769200	Enhancers	HepG2	liver
17	chr15:45768600-45773000	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr15:45768800-45769000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:45768800-45769200	Enhancers	Osteobl	bone
20	chr15:45768800-45769400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:45768800-45769400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr15:45768800-45769400	Enhancers	NH-A	brain
23	chr15:45768800-45776000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr15:45769000-45769200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
25	chr15:45769000-45769200	Enhancers	Liver	Liver
26	chr15:45769000-45769200	Enhancers	Small Intestine	intestine
27	chr15:45769200-45769400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:45769200-45772600	Weak transcription	Adipose Nuclei	Adipose
29	chr15:45769200-45781400	Weak transcription	Osteobl	bone
30	chr15:45769200-45812000	Weak transcription	Small Intestine	intestine
31	chr15:45769400-45775600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:45769400-45778000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:45769400-45791800	Weak transcription	NH-A	brain
34	chr15:45769400-45794600	Weak transcription	Fetal Intestine Small	intestine
35	chr15:45769400-45794800	Weak transcription	Ovary	ovary
36	chr15:45769400-45813000	Weak transcription	Fetal Intestine Large	intestine
37	chr15:45769600-45772600	Weak transcription	Brain Anterior Caudate	brain
38	chr15:45769600-45779200	Weak transcription	Liver	Liver
39	chr15:45769600-45780000	Weak transcription	Left Ventricle	heart
40	chr15:45769800-45778400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr15:45769800-45794600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr15:45770200-45780000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr15:45770200-45781000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr15:45770800-45779600	Weak transcription	Colon Smooth Muscle	Colon

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