Variant report

Variant	nsv528192
Chromosome Location	chr13:30800293-30805992
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	chr13:30796832..30799585-chr13:30801538..30805408,3	K562	blood:
2	chr13:30796105..30798319-chr13:30802158..30804551,2	MCF-7	breast:

Extended variants
information (count: 214 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs169332	chr13:30800293-30800294	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533184006	chr13:30800301-30800302	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7331289	chr13:30800341-30800342	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148329724	chr13:30800361-30800362	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529185085	chr13:30800378-30800379	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76317716	chr13:30800380-30800381	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142971423	chr13:30800392-30800393	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371664817	chr13:30800405-30800406	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147452165	chr13:30800455-30800456	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557918479	chr13:30800472-30800473	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571341654	chr13:30800485-30800486	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565319268	chr13:30800523-30800524	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533855400	chr13:30800543-30800544	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553502370	chr13:30800548-30800549	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184905356	chr13:30800563-30800564	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370444081	chr13:30800675-30800676	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542161736	chr13:30800695-30800696	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76814234	chr13:30800765-30800766	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535883141	chr13:30800824-30800825	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189493497	chr13:30800845-30800846	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17632920	chr13:30800888-30800889	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs181154776	chr13:30800893-30800894	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9506277	chr13:30800939-30800940	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540683116	chr13:30800940-30800941	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543569588	chr13:30800954-30800955	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556724829	chr13:30800958-30800959	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186655660	chr13:30800962-30800963	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73443666	chr13:30800980-30800981	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs144090341	chr13:30800985-30800986	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374902502	chr13:30801025-30801026	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150693209	chr13:30801028-30801029	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531562482	chr13:30801039-30801040	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191498462	chr13:30801079-30801080	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs633951	chr13:30801107-30801108	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571430457	chr13:30801115-30801116	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533659113	chr13:30801143-30801144	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183173861	chr13:30801162-30801163	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567197013	chr13:30801169-30801170	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545503363	chr13:30801213-30801214	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs536234760	chr13:30801219-30801220	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs560611007	chr13:30801220-30801221	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs139836573	chr13:30801229-30801230	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs140776747	chr13:30801250-30801251	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs111755693	chr13:30801253-30801254	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs139297299	chr13:30801262-30801263	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs71093031	chr13:30801263-30801264	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs199828994	chr13:30801265-30801266	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs544469601	chr13:30801317-30801318	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs527684781	chr13:30801334-30801335	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs202111	chr13:30801363-30801364	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21147910	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30765600-30807000	Weak transcription	Gastric	stomach
2	chr13:30766400-30804400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr13:30770600-30803200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr13:30774400-30812600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr13:30774600-30802800	Weak transcription	Lung	lung
6	chr13:30774600-30805200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:30775000-30803000	Weak transcription	Esophagus	oesophagus
8	chr13:30780200-30801000	Weak transcription	Pancreas	Pancrea
9	chr13:30790000-30807000	Weak transcription	Small Intestine	intestine
10	chr13:30791000-30802600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr13:30791000-30802600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr13:30791000-30807200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr13:30791000-30808800	Weak transcription	Brain Hippocampus Middle	brain
14	chr13:30791000-30811600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:30791000-30831400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr13:30792400-30802600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr13:30794000-30801200	Weak transcription	Colon Smooth Muscle	Colon
18	chr13:30795800-30805600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:30796200-30800400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr13:30796400-30801600	ZNF genes & repeats	Dnd41	blood
21	chr13:30796600-30800400	ZNF genes & repeats	Fetal Brain Female	brain
22	chr13:30796600-30807000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr13:30796600-30808600	Weak transcription	Brain Substantia Nigra	brain
24	chr13:30796800-30800400	Weak transcription	HSMM	muscle
25	chr13:30796800-30802800	Weak transcription	Fetal Intestine Large	intestine
26	chr13:30796800-30802800	Weak transcription	K562	blood
27	chr13:30796800-30831400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr13:30797000-30800800	Weak transcription	HUVEC	blood vessel
29	chr13:30797000-30808600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr13:30797000-30823400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr13:30797200-30802800	Weak transcription	Fetal Intestine Small	intestine
32	chr13:30797400-30802800	Weak transcription	Fetal Stomach	stomach
33	chr13:30797800-30814800	Weak transcription	Placenta	Placenta
34	chr13:30798800-30803400	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr13:30798800-30804400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr13:30798800-30810800	Strong transcription	Fetal Thymus	thymus
37	chr13:30799000-30800800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr13:30799000-30805600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr13:30799200-30800800	Genic enhancers	Osteobl	bone
40	chr13:30799200-30802800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr13:30799200-30804000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr13:30799200-30805600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr13:30799200-30805600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr13:30799200-30805600	Strong transcription	Liver	Liver
45	chr13:30799200-30805600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr13:30799200-30811800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr13:30799200-30831400	Weak transcription	Aorta	Aorta
48	chr13:30799400-30800400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr13:30799400-30800400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr13:30799400-30800400	Weak transcription	Adipose Nuclei	Adipose

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