Variant report

Variant	esv3390387
Chromosome Location	chr2:113533281-113535579
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113533014..113535192-chr2:113549510..113553376,4	K562	blood:
2	chr2:113528918..113531311-chr2:113533495..113535043,2	K562	blood:
3	chr2:113524833..113528403-chr2:113530535..113535066,4	K562	blood:
4	chr2:113535242..113537161-chr2:113537469..113539129,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369542863	chr2:113533327-113533328	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs3783548	chr2:113533333-113533334	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs3783547	chr2:113533339-113533340	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs534605890	chr2:113533355-113533356	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs555339050	chr2:113533364-113533365	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs535441440	chr2:113533373-113533374	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs192972707	chr2:113533378-113533379	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs544052446	chr2:113533471-113533472	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563838877	chr2:113533509-113533510	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577278692	chr2:113533510-113533511	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2856843	chr2:113533609-113533610	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3783587	chr2:113533684-113533685	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs185661047	chr2:113533687-113533688	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114440823	chr2:113533700-113533701	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548156736	chr2:113533704-113533705	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560867854	chr2:113533830-113533831	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140229403	chr2:113533836-113533837	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145913839	chr2:113533845-113533846	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569463184	chr2:113533869-113533870	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532333403	chr2:113533871-113533872	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552028383	chr2:113533872-113533873	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77870014	chr2:113533938-113533939	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75461983	chr2:113533999-113534000	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13000462	chr2:113534024-113534025	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs188089057	chr2:113534025-113534026	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371391542	chr2:113534029-113534030	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs55792568	chr2:113534084-113534085	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs55994800	chr2:113534116-113534117	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2856842	chr2:113534208-113534209	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs386575480	chr2:113534254-113534255	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553642509	chr2:113534495-113534496	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537701106	chr2:113534593-113534594	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557593344	chr2:113534665-113534666	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs61245237	chr2:113534683-113534684	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75128338	chr2:113534684-113534685	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577404283	chr2:113534719-113534720	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575056478	chr2:113534792-113534793	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543367933	chr2:113534799-113534800	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191246744	chr2:113534814-113534815	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3783546	chr2:113534830-113534831	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs541834601	chr2:113534860-113534861	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565037921	chr2:113534928-113534929	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373703577	chr2:113534941-113534942	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529940004	chr2:113534947-113534948	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543360665	chr2:113534952-113534953	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183837601	chr2:113535074-113535075	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532242928	chr2:113535093-113535094	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552330081	chr2:113535130-113535131	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138466180	chr2:113535172-113535173	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528155528	chr2:113535201-113535202	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113522800-113541600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:113523400-113539200	Weak transcription	Hela-S3	cervix
3	chr2:113523800-113534600	Weak transcription	HMEC	breast
4	chr2:113526800-113537800	Weak transcription	NHDF-Ad	bronchial
5	chr2:113528400-113533800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:113530200-113534600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:113530200-113541200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:113530400-113533600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:113530400-113538600	Weak transcription	K562	blood
10	chr2:113531000-113533600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr2:113531600-113534800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:113532200-113534400	Strong transcription	NHEK	skin
13	chr2:113532200-113535000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:113532200-113535000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:113533000-113534000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:113533200-113533400	Flanking Active TSS	Fetal Heart	heart
17	chr2:113533400-113534000	Enhancers	Fetal Heart	heart
18	chr2:113533600-113533800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:113533600-113534000	Enhancers	GM12878-XiMat	blood
20	chr2:113533600-113535200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr2:113533600-113535400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:113533600-113535400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:113533800-113534000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:113533800-113534000	Enhancers	Primary T cells from cord blood	blood
25	chr2:113533800-113534400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:113533800-113535200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:113534000-113534600	Weak transcription	Primary T cells from cord blood	blood
28	chr2:113534000-113538800	Weak transcription	GM12878-XiMat	blood
29	chr2:113534000-113551800	Weak transcription	Fetal Heart	heart
30	chr2:113534400-113534800	Weak transcription	NHEK	skin
31	chr2:113534400-113535600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:113534600-113535000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:113534600-113535000	Enhancers	Thymus	Thymus
34	chr2:113534600-113535200	Enhancers	Primary T cells from cord blood	blood
35	chr2:113534600-113535200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:113534600-113535200	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr2:113534600-113535200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr2:113534600-113535200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr2:113534600-113535200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr2:113534600-113535400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:113534600-113535400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr2:113534600-113535400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:113534600-113535600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:113534600-113535600	Enhancers	Primary T cells fromperipheralblood	blood
45	chr2:113534600-113535600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:113534600-113535800	Genic enhancers	HMEC	breast
47	chr2:113534800-113536600	Genic enhancers	NHEK	skin
48	chr2:113534800-113537600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:113535000-113535200	Enhancers	Pancreas	Pancrea
50	chr2:113535000-113535600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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