Variant report

Variant	esv1818424
Chromosome Location	chr13:65283647-65308657
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:65293521..65294041-chr8:107636082..107636585,2	MCF-7	breast:
2	chr13:65286215..65288763-chr13:65291876..65293439,2	K562	blood:
3	chr13:65286215..65288763-chr13:65291876..65293439,2	K562	blood:

Extended variants
information (count: 585 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:585 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs359334	chr13:65283647-65283648	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2065880	chr13:65283692-65283693	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs141095626	chr13:65283751-65283752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111475983	chr13:65283758-65283759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186364263	chr13:65283789-65283790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9317436	chr13:65283790-65283791	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs201540098	chr13:65283879-65283880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs359335	chr13:65283966-65283967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs4883741	chr13:65284043-65284044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs9317437	chr13:65284051-65284052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs144805078	chr13:65284088-65284089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573646957	chr13:65284116-65284117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542604588	chr13:65284121-65284122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115825295	chr13:65284128-65284129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9317438	chr13:65284135-65284136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs565238684	chr13:65284141-65284142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189202485	chr13:65284160-65284161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556061744	chr13:65284177-65284178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143375438	chr13:65284212-65284213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569036910	chr13:65284215-65284216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs80164918	chr13:65284262-65284263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367772436	chr13:65284263-65284264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75555300	chr13:65284265-65284266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150962837	chr13:65284313-65284314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180977255	chr13:65284316-65284317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561630194	chr13:65284341-65284342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370500273	chr13:65284342-65284343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184994562	chr13:65284400-65284401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529918347	chr13:65284458-65284459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561562928	chr13:65284482-65284483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530456080	chr13:65284499-65284500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548980587	chr13:65284505-65284506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559327431	chr13:65284539-65284540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528145705	chr13:65284562-65284563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540366404	chr13:65284567-65284568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571312359	chr13:65284581-65284582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79012418	chr13:65284595-65284596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs450969	chr13:65284634-65284635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs114904305	chr13:65284708-65284709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536170630	chr13:65284756-65284757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552923093	chr13:65284782-65284783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573207747	chr13:65284823-65284824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542742752	chr13:65284856-65284857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190293823	chr13:65284868-65284869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559015319	chr13:65284906-65284907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74930126	chr13:65284918-65284919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371789951	chr13:65284925-65284926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374736254	chr13:65284928-65284929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544808388	chr13:65284964-65284965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114826740	chr13:65285047-65285048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65283000-65283800	Enhancers	NHDF-Ad	bronchial
2	chr13:65283200-65287200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:65283400-65283800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:65287200-65287600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr13:65289000-65290200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr13:65290000-65290200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr13:65290000-65293200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:65290200-65290400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr13:65290200-65290800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr13:65290400-65291000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr13:65290400-65293200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:65290800-65292400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr13:65291000-65291600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:65291000-65291800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr13:65291800-65292800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr13:65292400-65297400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr13:65293200-65296000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:65293200-65296000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:65293600-65298400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:65296000-65296200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:65296000-65298600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr13:65296200-65296800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:65296200-65297400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr13:65296600-65297400	Enhancers	HUVEC	blood vessel
25	chr13:65296800-65297000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:65296800-65297400	Enhancers	A549	lung
27	chr13:65296800-65298400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr13:65296800-65298600	Enhancers	NHDF-Ad	bronchial
29	chr13:65297000-65297800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:65297000-65298400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr13:65297000-65298600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr13:65297400-65297800	Flanking Active TSS	A549	lung
33	chr13:65297400-65297800	Flanking Active TSS	HUVEC	blood vessel
34	chr13:65297400-65298000	Enhancers	HSMMtube	muscle
35	chr13:65297400-65298200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr13:65297400-65298200	Enhancers	Fetal Heart	heart
37	chr13:65297400-65298400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:65297400-65298400	Enhancers	Hela-S3	cervix
39	chr13:65297400-65298600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr13:65297400-65298600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr13:65297400-65298600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr13:65297400-65298600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr13:65297400-65298600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr13:65297400-65298600	Enhancers	HMEC	breast
45	chr13:65297400-65298600	Enhancers	NH-A	brain
46	chr13:65297400-65298600	Enhancers	NHEK	skin
47	chr13:65297800-65298200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:65297800-65298200	Enhancers	H9 Cell Line	embryonic stem cell
49	chr13:65297800-65298200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr13:65297800-65298200	Active TSS	A549	lung

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