Variant report

Variant	esv3407569
Chromosome Location	chr13:30859269-30861473
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30859379..30862261-chr13:30868087..30870616,2	K562	blood:
2	chr13:30859194..30861688-chr13:30861756..30863782,2	K562	blood:
3	chr13:30859379..30862261-chr13:30868087..30870616,3	K562	blood:
4	chr13:30861210..30864366-chr13:30881406..30883118,3	K562	blood:

Variant related genes	Relation type
ENSG00000215049	chromatin interactions
ENSG00000102781	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566222767	chr13:30859301-30859302	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs535128267	chr13:30859384-30859385	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554922146	chr13:30859396-30859397	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78506330	chr13:30859461-30859462	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs76292512	chr13:30859463-30859464	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs367859045	chr13:30859531-30859532	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12874609	chr13:30859561-30859562	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544813332	chr13:30859576-30859577	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs181025350	chr13:30859589-30859590	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs115935179	chr13:30859590-30859591	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201428762	chr13:30859698-30859699	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575625176	chr13:30859713-30859714	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs577369274	chr13:30859737-30859738	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs149863372	chr13:30859759-30859760	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184862411	chr13:30859885-30859886	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs573353541	chr13:30859978-30859979	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs542276796	chr13:30860021-30860022	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562079222	chr13:30860037-30860038	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs530896451	chr13:30860054-30860055	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs550602457	chr13:30860058-30860059	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs546310068	chr13:30860086-30860087	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs189373760	chr13:30860088-30860089	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs145787448	chr13:30860140-30860141	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs546773087	chr13:30860164-30860165	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566261938	chr13:30860200-30860201	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs202105	chr13:30860234-30860235	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs146511421	chr13:30860249-30860250	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370241556	chr13:30860290-30860291	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs564314401	chr13:30860323-30860324	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs372760186	chr13:30860332-30860333	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs202106	chr13:30860341-30860342	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs202107	chr13:30860366-30860367	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs75429777	chr13:30860370-30860371	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537802978	chr13:30860375-30860376	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs147593968	chr13:30860410-30860411	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs577462214	chr13:30860413-30860414	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs528541607	chr13:30860440-30860441	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs539673536	chr13:30860473-30860474	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs547267227	chr13:30860487-30860488	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs573439964	chr13:30860502-30860503	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs142092539	chr13:30860535-30860536	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs181398642	chr13:30860598-30860599	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs186594136	chr13:30860678-30860679	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs190719154	chr13:30860687-30860688	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs181845812	chr13:30860708-30860709	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs186538720	chr13:30860734-30860735	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs562376031	chr13:30860739-30860740	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs559933369	chr13:30860865-30860866	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529027201	chr13:30860869-30860870	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs529476836	chr13:30860871-30860872	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Squamous cell cancer	20885788	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Malignant glioma	17146433	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
Acute lymphoblastic leukemia	21339820	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Retinoblastoma	22278416	CNVD
Peters Plus syndrome	16909395	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Ovarian cancer	19047089	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21147910	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30826800-30860400	Weak transcription	Esophagus	oesophagus
2	chr13:30832200-30861000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr13:30832200-30863400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr13:30832200-30863800	Weak transcription	HSMMtube	muscle
5	chr13:30832400-30859400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr13:30837800-30860000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:30840400-30859800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr13:30842400-30863800	Weak transcription	Ovary	ovary
9	chr13:30843000-30880200	Weak transcription	Fetal Stomach	stomach
10	chr13:30845200-30866200	Weak transcription	Small Intestine	intestine
11	chr13:30845600-30863400	Weak transcription	K562	blood
12	chr13:30847000-30859800	Weak transcription	Brain Germinal Matrix	brain
13	chr13:30847200-30859400	Weak transcription	Brain Anterior Caudate	brain
14	chr13:30847200-30860400	Weak transcription	Brain Substantia Nigra	brain
15	chr13:30847200-30876000	Weak transcription	Lung	lung
16	chr13:30847400-30860800	Weak transcription	Spleen	Spleen
17	chr13:30847400-30867800	Weak transcription	Right Ventricle	heart
18	chr13:30847400-30870200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:30848000-30862600	Weak transcription	HepG2	liver
20	chr13:30849000-30862800	Weak transcription	Fetal Heart	heart
21	chr13:30849400-30859400	Weak transcription	Aorta	Aorta
22	chr13:30849600-30860800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:30849600-30862800	Weak transcription	Fetal Lung	lung
24	chr13:30849600-30866000	Weak transcription	Thymus	Thymus
25	chr13:30849800-30860400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:30849800-30870200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr13:30850000-30860400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr13:30850600-30859400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr13:30850800-30862200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr13:30850800-30872000	Weak transcription	Primary B cells from cord blood	blood
31	chr13:30851000-30867400	Weak transcription	Primary T cells from cord blood	blood
32	chr13:30851600-30863600	Weak transcription	NHEK	skin
33	chr13:30851800-30874200	Weak transcription	HUVEC	blood vessel
34	chr13:30852200-30860000	Weak transcription	Brain Hippocampus Middle	brain
35	chr13:30852200-30865200	Weak transcription	Fetal Intestine Large	intestine
36	chr13:30852400-30860400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr13:30852400-30863400	Weak transcription	Brain Angular Gyrus	brain
38	chr13:30853000-30862800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr13:30853800-30859800	Weak transcription	Liver	Liver
40	chr13:30853800-30860400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr13:30853800-30862200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:30853800-30863400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr13:30854000-30863200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr13:30854000-30863400	Weak transcription	NHLF	lung
45	chr13:30854000-30866200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr13:30854000-30870200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr13:30854000-30876800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr13:30854200-30863200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr13:30854200-30863600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr13:30854200-30863800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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