Variant report

Variant	esv2621133
Chromosome Location	chr8:91515761-91517085
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:91013103..91014639-chr8:91517062..91519240,2	MCF-7	breast:
2	chr8:91506491..91513264-chr8:91513360..91516300,7	K562	blood:
3	chr8:91515837..91516882-chr8:91582882..91583540,3	MCF-7	breast:
4	chr8:91509461..91513264-chr8:91513664..91516256,3	K562	blood:
5	chr8:91012056..91014977-chr8:91512985..91517287,3	MCF-7	breast:
6	chr8:91516242..91518004-chr8:91537663..91540074,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM64-3	chr8:91516514-91516722	XLOC_007148
2	lnc-TMEM64-3	chr8:91516828-91516880	XLOC_007148

No data

Variant related genes	Relation type
ENSG00000104325	chromatin interactions
OSBP2	miRNA target sites
KCNJ16	miRNA target sites

Extended variants
information (count: 41 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371675604	chr8:91515769-91515770	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs564191012	chr8:91515798-91515799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs80311494	chr8:91515809-91515810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78893698	chr8:91515815-91515816	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs558429310	chr8:91515816-91515817	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs34457602	chr8:91515916-91515917	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs193151556	chr8:91515930-91515931	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550450127	chr8:91515944-91515945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563368085	chr8:91515987-91515988	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs569760899	chr8:91516028-91516029	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537026375	chr8:91516035-91516036	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs185659342	chr8:91516051-91516052	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs570940265	chr8:91516180-91516181	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534781690	chr8:91516185-91516186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs553537531	chr8:91516256-91516257	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575048721	chr8:91516284-91516285	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189221197	chr8:91516305-91516306	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562136174	chr8:91516318-91516319	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs7000724	chr8:91516335-91516336	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs192516087	chr8:91516352-91516353	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs78789820	chr8:91516353-91516354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs200155329	chr8:91516383-91516384	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530572534	chr8:91516419-91516420	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs549105453	chr8:91516420-91516421	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs10504894	chr8:91516436-91516437	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs184059938	chr8:91516449-91516450	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs539907408	chr8:91516510-91516511	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs561957127	chr8:91516529-91516530	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs144642530	chr8:91516572-91516573	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs533255881	chr8:91516575-91516576	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs112808392	chr8:91516709-91516710	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs139488857	chr8:91516740-91516741	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs533024403	chr8:91516783-91516784	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs148425754	chr8:91516784-91516785	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370066766	chr8:91516786-91516787	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs552563678	chr8:91516792-91516793	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs533867859	chr8:91516818-91516819	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs535131098	chr8:91516885-91516886	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs546771400	chr8:91517003-91517004	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs568719908	chr8:91517010-91517011	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs536039596	chr8:91517051-91517052	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91510000-91516600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:91514200-91516400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:91515400-91516600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:91516400-91516800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:91516400-91516800	Enhancers	Osteobl	bone
6	chr8:91516400-91517000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr8:91516400-91517400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:91516400-91517800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:91516400-91517800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:91516400-91518000	Enhancers	NHEK	skin
11	chr8:91516400-91518600	Enhancers	NHDF-Ad	bronchial
12	chr8:91516600-91516800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:91516600-91517600	Enhancers	HMEC	breast
14	chr8:91516600-91517800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:91516600-91517800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:91516800-91517600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:91516800-91517600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:91517000-91522400	Weak transcription	Placenta Amnion	Placenta Amnion

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