Variant report

Variant	esv3417239
Chromosome Location	chr13:37879752-37881700
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	chr12:126015648..126016148-chr13:37878876..37879768,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186416892	chr13:37879768-37879769	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs75063302	chr13:37879813-37879814	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs527562902	chr13:37879860-37879861	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs190781087	chr13:37879861-37879862	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs183521371	chr13:37879873-37879874	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs535067209	chr13:37879885-37879886	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs533413614	chr13:37879925-37879926	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs17055294	chr13:37879961-37879962	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs145140153	chr13:37879987-37879988	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs367980417	chr13:37880002-37880003	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs17234364	chr13:37880003-37880004	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs549572808	chr13:37880062-37880063	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs565958957	chr13:37880086-37880087	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs534968004	chr13:37880170-37880171	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs558068733	chr13:37880258-37880259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188517922	chr13:37880259-37880260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79250176	chr13:37880344-37880345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555945307	chr13:37880349-37880350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61947173	chr13:37880406-37880407	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs541589275	chr13:37880413-37880414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191210318	chr13:37880463-37880464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201277228	chr13:37880482-37880483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375911819	chr13:37880483-37880484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183064253	chr13:37880484-37880485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs61283199	chr13:37880497-37880498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs58706493	chr13:37880501-37880502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs56763309	chr13:37880506-37880507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199505970	chr13:37880509-37880510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536570513	chr13:37880511-37880512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370296388	chr13:37880513-37880514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201180977	chr13:37880516-37880517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs56102112	chr13:37880517-37880518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567454982	chr13:37880519-37880520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs59123068	chr13:37880531-37880532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10625988	chr13:37880532-37880533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4943474	chr13:37880543-37880544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4943475	chr13:37880550-37880551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4943476	chr13:37880557-37880558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4943477	chr13:37880558-37880559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs60169011	chr13:37880569-37880570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561184428	chr13:37880571-37880572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371477045	chr13:37880587-37880588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186817055	chr13:37880589-37880590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11840304	chr13:37880595-37880596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373252115	chr13:37880596-37880597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201381916	chr13:37880605-37880606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369974825	chr13:37880608-37880609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs60491567	chr13:37880609-37880610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs199603732	chr13:37880610-37880611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543817123	chr13:37880613-37880614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	17440070	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37877000-37879800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr13:37877800-37880000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr13:37877800-37880200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr13:37878000-37880000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:37878000-37880000	Weak transcription	NHDF-Ad	bronchial
6	chr13:37878000-37880000	Weak transcription	Osteobl	bone
7	chr13:37878400-37879800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:37878600-37881200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr13:37879200-37879800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr13:37879200-37880600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr13:37879400-37881200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr13:37879600-37880000	ZNF genes & repeats	HMEC	breast
13	chr13:37879600-37880200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr13:37879600-37881800	Enhancers	NHEK	skin
15	chr13:37879800-37880400	Enhancers	NH-A	brain
16	chr13:37879800-37881200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr13:37879800-37881200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr13:37879800-37881800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:37880000-37880200	Enhancers	Osteobl	bone
20	chr13:37880000-37880600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr13:37880000-37880800	Weak transcription	HMEC	breast
22	chr13:37880000-37881200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr13:37880000-37881600	Enhancers	NHDF-Ad	bronchial
24	chr13:37880200-37880600	Weak transcription	Osteobl	bone
25	chr13:37880200-37880800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:37880200-37881800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:37880400-37880800	Weak transcription	NH-A	brain
28	chr13:37880600-37881000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr13:37880600-37881000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:37880600-37881600	Enhancers	Osteobl	bone
31	chr13:37880800-37881000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr13:37880800-37881600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:37880800-37881600	Enhancers	HMEC	breast
34	chr13:37880800-37881600	Enhancers	HSMM	muscle
35	chr13:37880800-37881600	Enhancers	HUVEC	blood vessel
36	chr13:37880800-37881600	Enhancers	NH-A	brain
37	chr13:37880800-37881600	Enhancers	NHLF	lung
38	chr13:37881000-37881200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:37881000-37881200	Active TSS	HSMMtube	muscle
40	chr13:37881000-37881400	Enhancers	Rectal Smooth Muscle	rectum
41	chr13:37881000-37881600	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr13:37881000-37881800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:37881200-37881400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr13:37881200-37881400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr13:37881200-37881400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr13:37881200-37881400	Flanking Active TSS	HSMMtube	muscle
47	chr13:37881200-37881600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr13:37881200-37881600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:37881200-37881600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr13:37881200-37881600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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