Variant report

Variant	esv16816
Chromosome Location	chr8:49118221-49166985
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:19772450..19772957-chr8:49132973..49133610,2	MCF-7	breast:
2	chr8:49125826..49128370-chr8:49128948..49131652,4	K562	blood:
3	chr8:49125826..49128370-chr8:49128948..49131652,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBE2V2-2	chr8:49138284-49138605	expReg_chr8_2994_+

Extended variants
information (count: 1322 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1322 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189027800	chr8:49130412-49130413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145170822	chr8:49130439-49130440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546088103	chr8:49130450-49130451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113193714	chr8:49130481-49130482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578086995	chr8:49130595-49130596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142200696	chr8:49130614-49130615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144437258	chr8:49130632-49130633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531283223	chr8:49130742-49130743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79770018	chr8:49130773-49130774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529768671	chr8:49130799-49130800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs151213479	chr8:49130845-49130846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532088230	chr8:49130864-49130865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181427985	chr8:49130879-49130880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373736051	chr8:49130993-49130994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534108723	chr8:49131030-49131031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs55723686	chr8:49131081-49131082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs567709101	chr8:49131128-49131129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570620858	chr8:49131328-49131329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538063204	chr8:49131361-49131362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556035561	chr8:49131371-49131372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371769768	chr8:49131372-49131373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185517226	chr8:49131461-49131462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535543373	chr8:49131519-49131520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188373063	chr8:49131554-49131555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527624137	chr8:49131621-49131622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547290984	chr8:49131692-49131693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76551398	chr8:49131695-49131696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564820446	chr8:49131708-49131709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140398614	chr8:49131728-49131729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111762991	chr8:49131806-49131807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74636022	chr8:49131810-49131811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535664275	chr8:49131925-49131926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556991064	chr8:49131926-49131927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56316010	chr8:49131933-49131934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs181025185	chr8:49131934-49131935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527299602	chr8:49131985-49131986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185905023	chr8:49132054-49132055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570726022	chr8:49132056-49132057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531462675	chr8:49132065-49132066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112735792	chr8:49132085-49132086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575357961	chr8:49132117-49132118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535583716	chr8:49132151-49132152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140405604	chr8:49132192-49132193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565504852	chr8:49132200-49132201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7841025	chr8:49132202-49132203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4480143	chr8:49132209-49132210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs145069113	chr8:49132222-49132223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7845258	chr8:49132224-49132225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs576684790	chr8:49132275-49132276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543750427	chr8:49132280-49132281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
22q11 deletion syndrome	20357662	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49130400-49130800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:49130800-49133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:49133400-49133800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:49133400-49134200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:49133600-49134000	Enhancers	NHEK	skin
6	chr8:49138000-49139800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:49138800-49141800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:49139400-49139600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:49139600-49146800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:49139800-49140400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:49139800-49141000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:49140200-49141000	Enhancers	Adipose Nuclei	Adipose
13	chr8:49140200-49141200	Enhancers	HMEC	breast
14	chr8:49140400-49141000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:49140400-49141000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:49140400-49141000	Enhancers	NHEK	skin
17	chr8:49140400-49141200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:49140600-49141000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:49141000-49141400	Weak transcription	Adipose Nuclei	Adipose
20	chr8:49141000-49143400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:49141200-49142000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:49141400-49142800	Enhancers	Adipose Nuclei	Adipose
23	chr8:49141600-49144400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:49141800-49142000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:49141800-49142200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:49141800-49143400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:49142000-49142800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:49142800-49143600	Weak transcription	Adipose Nuclei	Adipose
29	chr8:49143200-49143800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:49143400-49144000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:49143400-49144200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:49143600-49144400	Enhancers	Adipose Nuclei	Adipose
33	chr8:49144200-49145000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:49146800-49147000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:49146800-49149000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:49147600-49148400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr8:49147800-49148200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:49151200-49153000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:49151400-49152600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:49151600-49152400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:49152000-49152400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr8:49152000-49152400	Enhancers	HMEC	breast
43	chr8:49152000-49152600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:49152200-49152400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:49152200-49152800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:49152400-49156800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:49155200-49158800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:49156400-49157200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:49156800-49157200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:49157200-49158000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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