Variant report

Variant	esv3414638
Chromosome Location	chr13:95829338-95836932
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:95835821..95837639-chr13:95838290..95839956,2	K562	blood:
2	chr13:95821172..95824046-chr13:95827548..95829686,2	MCF-7	breast:
3	chr13:95827296..95830102-chr13:95830426..95833781,3	K562	blood:
4	chr13:95827296..95830102-chr13:95830426..95833781,3	K562	blood:

Extended variants
information (count: 314 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140558599	chr13:95829345-95829346	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs540265624	chr13:95829361-95829362	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs199734420	chr13:95829374-95829375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs554336365	chr13:95829424-95829425	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117847453	chr13:95829486-95829487	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4148495	chr13:95829502-95829503	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs563100810	chr13:95829503-95829504	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4148494	chr13:95829519-95829520	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542547641	chr13:95829527-95829528	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144437528	chr13:95829566-95829567	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2478461	chr13:95829575-95829576	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs2009772	chr13:95829588-95829589	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562474954	chr13:95829601-95829602	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1073500	chr13:95829612-95829613	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs150437315	chr13:95829617-95829618	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549418177	chr13:95829632-95829633	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568163965	chr13:95829633-95829634	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1678405	chr13:95829681-95829682	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs117589743	chr13:95829692-95829693	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113471695	chr13:95829695-95829696	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565816365	chr13:95829716-95829717	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534234155	chr13:95829741-95829742	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571041403	chr13:95829813-95829814	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2296653	chr13:95829843-95829844	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs577283862	chr13:95829858-95829859	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539945086	chr13:95829867-95829868	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1751005	chr13:95829870-95829871	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs576620982	chr13:95829889-95829890	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11568662	chr13:95829903-95829904	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs369958380	chr13:95829911-95829912	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149149576	chr13:95829912-95829913	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs55711891	chr13:95829922-95829923	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570000213	chr13:95829932-95829933	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374428449	chr13:95829936-95829937	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541296492	chr13:95829954-95829955	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143907101	chr13:95829966-95829967	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150633056	chr13:95829998-95829999	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199801161	chr13:95830005-95830006	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532726584	chr13:95830008-95830009	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs202099979	chr13:95830030-95830031	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193921134	chr13:95830043-95830044	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11568661	chr13:95830156-95830157	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11568660	chr13:95830193-95830194	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376216832	chr13:95830199-95830200	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111870162	chr13:95830221-95830222	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372970645	chr13:95830240-95830241	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs58290984	chr13:95830288-95830289	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142211148	chr13:95830299-95830300	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs367759893	chr13:95830300-95830301	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565835390	chr13:95830349-95830350	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95752200-95844200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr13:95778800-95833400	Weak transcription	Spleen	Spleen
3	chr13:95799200-95833400	Weak transcription	HSMMtube	muscle
4	chr13:95807000-95846000	Weak transcription	Brain Substantia Nigra	brain
5	chr13:95807000-95857800	Weak transcription	Esophagus	oesophagus
6	chr13:95807200-95844400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr13:95807200-95865600	Weak transcription	Colonic Mucosa	Colon
8	chr13:95807400-95837800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr13:95808200-95841800	Weak transcription	Osteobl	bone
10	chr13:95808400-95833400	Weak transcription	Fetal Kidney	kidney
11	chr13:95808400-95854600	Weak transcription	NHEK	skin
12	chr13:95810400-95836200	Weak transcription	Fetal Thymus	thymus
13	chr13:95810400-95836400	Weak transcription	Thymus	Thymus
14	chr13:95812400-95831400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr13:95812800-95833400	Weak transcription	Pancreas	Pancrea
16	chr13:95813200-95858000	Weak transcription	Aorta	Aorta
17	chr13:95814600-95832400	Weak transcription	HepG2	liver
18	chr13:95814800-95831200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr13:95814800-95833400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:95815000-95844200	Weak transcription	Fetal Muscle Leg	muscle
21	chr13:95815200-95847800	Weak transcription	Hela-S3	cervix
22	chr13:95817000-95830000	Weak transcription	Small Intestine	intestine
23	chr13:95817200-95833400	Weak transcription	Psoas Muscle	Psoas
24	chr13:95817400-95832800	Weak transcription	Stomach Mucosa	stomach
25	chr13:95818200-95841800	Weak transcription	NHDF-Ad	bronchial
26	chr13:95818600-95830000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr13:95822000-95829800	Weak transcription	Ovary	ovary
28	chr13:95822000-95834600	Weak transcription	Fetal Stomach	stomach
29	chr13:95822000-95837000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr13:95823600-95844400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr13:95824000-95830800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr13:95824400-95833400	Weak transcription	Left Ventricle	heart
33	chr13:95824600-95831000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr13:95824600-95840000	Weak transcription	Fetal Lung	lung
35	chr13:95824800-95831400	Strong transcription	A549	lung
36	chr13:95825000-95831000	Strong transcription	Fetal Intestine Small	intestine
37	chr13:95825200-95830400	Strong transcription	Lung	lung
38	chr13:95825200-95830800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr13:95825200-95830800	Strong transcription	Stomach Smooth Muscle	stomach
40	chr13:95825400-95830400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr13:95825400-95830600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr13:95825400-95831200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr13:95825400-95841400	Weak transcription	HUVEC	blood vessel
44	chr13:95826000-95833800	Weak transcription	K562	blood
45	chr13:95826600-95831000	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr13:95826800-95831400	Strong transcription	NHLF	lung
47	chr13:95827200-95830400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr13:95827200-95838000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr13:95827400-95829400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr13:95827400-95829800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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