Variant report

Variant	esv3423852
Chromosome Location	chr2:127448933-127452547
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	chr2:127448304..127450684-chr2:127460998..127463238,2	K562	blood:
2	chr2:127437217..127440041-chr2:127447833..127449448,2	K562	blood:

Extended variants
information (count: 229 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:229 , 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	rs578165455	chr2:127448942-127448943	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537556241	chr2:127448972-127448973	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2280238	chr2:127448989-127448990	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs56166120	chr2:127449001-127449002	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542846993	chr2:127449009-127449010	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs367594716	chr2:127449012-127449013	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560035442	chr2:127449058-127449059	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs56209724	chr2:127449074-127449075	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138736329	chr2:127449075-127449076	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544632726	chr2:127449083-127449084	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2280239	chr2:127449117-127449118	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs369880598	chr2:127449122-127449123	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2280240	chr2:127449149-127449150	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs550272119	chr2:127449174-127449175	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149328651	chr2:127449199-127449200	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569302487	chr2:127449227-127449228	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375416317	chr2:127449273-127449274	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552811489	chr2:127449319-127449320	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569546504	chr2:127449325-127449326	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546471132	chr2:127449332-127449333	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144428964	chr2:127449336-127449337	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548639031	chr2:127449342-127449343	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs28387208	chr2:127449373-127449374	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs61396372	chr2:127449380-127449381	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13432961	chr2:127449447-127449448	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs571676106	chr2:127449464-127449465	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190287145	chr2:127449489-127449490	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557473038	chr2:127449500-127449501	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6713909	chr2:127449532-127449533	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182581041	chr2:127449551-127449552	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553268848	chr2:127449594-127449595	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148409659	chr2:127449598-127449599	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184294185	chr2:127449620-127449621	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558786929	chr2:127449628-127449629	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs28387209	chr2:127449637-127449638	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs2176429	chr2:127449666-127449667	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561081495	chr2:127449688-127449689	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529741196	chr2:127449704-127449705	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2176428	chr2:127449705-127449706	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs118129566	chr2:127449741-127449742	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs80198249	chr2:127449757-127449758	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558350839	chr2:127449758-127449759	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188968723	chr2:127449760-127449761	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74723148	chr2:127449767-127449768	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575159720	chr2:127449782-127449783	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530966075	chr2:127449807-127449808	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550683729	chr2:127449830-127449831	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547689430	chr2:127449877-127449878	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142553524	chr2:127449885-127449886	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553396487	chr2:127449897-127449898	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127422200-127453400	Weak transcription	Colonic Mucosa	Colon
2	chr2:127424200-127451000	Weak transcription	NHLF	lung
3	chr2:127433600-127451400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:127433800-127452600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:127434000-127451000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:127434000-127451000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:127434200-127457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:127434800-127453000	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:127434800-127453200	Weak transcription	Placenta	Placenta
10	chr2:127435200-127457400	Weak transcription	Fetal Kidney	kidney
11	chr2:127435400-127452800	Weak transcription	Fetal Intestine Large	intestine
12	chr2:127439800-127457600	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:127440400-127451200	Weak transcription	Esophagus	oesophagus
14	chr2:127442000-127456800	Weak transcription	Osteobl	bone
15	chr2:127443400-127452600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:127443600-127458800	Strong transcription	Primary T cells from cord blood	blood
17	chr2:127444000-127456400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:127444000-127458200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:127444200-127451400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:127444400-127449800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr2:127444600-127449600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:127444600-127451200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:127445200-127456000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:127445400-127451200	Weak transcription	Fetal Thymus	thymus
25	chr2:127445400-127451400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr2:127445400-127456400	Strong transcription	Stomach Smooth Muscle	stomach
27	chr2:127446000-127451400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
28	chr2:127446000-127451400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:127446000-127451600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr2:127446000-127451800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:127446000-127454600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:127446200-127450200	Weak transcription	Pancreas	Pancrea
33	chr2:127446200-127451200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:127446400-127453400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:127446400-127456200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr2:127446400-127456200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr2:127446600-127456600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:127446800-127449000	Weak transcription	K562	blood
39	chr2:127446800-127449600	Weak transcription	Fetal Heart	heart
40	chr2:127446800-127449600	Weak transcription	Psoas Muscle	Psoas
41	chr2:127446800-127451200	Weak transcription	HSMMtube	muscle
42	chr2:127446800-127458200	Weak transcription	NHDF-Ad	bronchial
43	chr2:127447400-127449600	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:127447400-127455800	Strong transcription	Ovary	ovary
45	chr2:127447400-127456200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:127447400-127457000	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:127447600-127449000	Strong transcription	Fetal Muscle Trunk	muscle
48	chr2:127447600-127449000	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:127447600-127449200	Strong transcription	Aorta	Aorta
50	chr2:127447600-127456000	Strong transcription	Fetal Lung	lung

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