Variant report

Variant	esv3331567
Chromosome Location	chr2:72782444-72785842
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	chr2:72783993..72785922-chr2:72791174..72793181,2	K562	blood:

Extended variants
information (count: 125 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542943755	chr2:72782454-72782455	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs112965996	chr2:72782470-72782471	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs373600242	chr2:72782492-72782493	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs560825869	chr2:72782606-72782607	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs189111543	chr2:72782707-72782708	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs543486981	chr2:72782714-72782715	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs35033582	chr2:72782722-72782723	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs181157630	chr2:72782728-72782729	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs140111139	chr2:72782761-72782762	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs547945021	chr2:72782788-72782789	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs533270557	chr2:72782802-72782803	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559703169	chr2:72782829-72782830	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143975356	chr2:72782845-72782846	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548464160	chr2:72782846-72782847	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111823573	chr2:72782865-72782866	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551722514	chr2:72782936-72782937	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536180724	chr2:72782937-72782938	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570061256	chr2:72783022-72783023	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186326167	chr2:72783070-72783071	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146454210	chr2:72783071-72783072	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140860267	chr2:72783097-72783098	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534828175	chr2:72783158-72783159	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553884593	chr2:72783173-72783174	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565744689	chr2:72783186-72783187	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536490487	chr2:72783225-72783226	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369601413	chr2:72783232-72783233	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554898211	chr2:72783246-72783247	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576430474	chr2:72783259-72783260	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144818658	chr2:72783266-72783267	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117037521	chr2:72783281-72783282	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191182806	chr2:72783287-72783288	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138662714	chr2:72783313-72783314	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7560599	chr2:72783314-72783315	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs569399664	chr2:72783341-72783342	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79389362	chr2:72783363-72783364	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7560529	chr2:72783396-72783397	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs148910274	chr2:72783410-72783411	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531124819	chr2:72783415-72783416	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545461155	chr2:72783480-72783481	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570760218	chr2:72783499-72783500	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558030405	chr2:72783658-72783659	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs578061081	chr2:72783666-72783667	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540302421	chr2:72783708-72783709	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143594853	chr2:72783774-72783775	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535556943	chr2:72783806-72783807	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568584469	chr2:72783820-72783821	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536426920	chr2:72783830-72783831	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs180762584	chr2:72783856-72783857	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74258815	chr2:72783879-72783880	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs397725595	chr2:72783888-72783889	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
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
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72761400-72783000	Weak transcription	Aorta	Aorta
2	chr2:72766400-72782800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:72766600-72786400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:72766800-72788000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:72766800-72788600	Weak transcription	NH-A	brain
6	chr2:72766800-72789200	Weak transcription	NHEK	skin
7	chr2:72768800-72786800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:72774000-72783000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:72775000-72808800	Weak transcription	Ovary	ovary
10	chr2:72776600-72783000	Weak transcription	Fetal Lung	lung
11	chr2:72776800-72783000	Weak transcription	Brain Substantia Nigra	brain
12	chr2:72777200-72789000	Weak transcription	Brain Angular Gyrus	brain
13	chr2:72779000-72783200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:72779600-72783000	Weak transcription	A549	lung
15	chr2:72781200-72782800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:72781200-72788600	Weak transcription	Brain Anterior Caudate	brain
17	chr2:72781200-72788600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:72781200-72788800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:72781800-72787000	Weak transcription	HUVEC	blood vessel
20	chr2:72781800-72788600	Weak transcription	HSMM	muscle
21	chr2:72781800-72789000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:72781800-72789000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:72781800-72789600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:72782000-72788800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:72782200-72784200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:72782200-72784800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:72782400-72783000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:72782400-72783200	Weak transcription	Left Ventricle	heart
29	chr2:72782600-72783000	Weak transcription	HSMMtube	muscle
30	chr2:72782800-72783200	ZNF genes & repeats	Fetal Stomach	stomach
31	chr2:72782800-72783600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:72782800-72783600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:72782800-72784000	Enhancers	HepG2	liver
34	chr2:72783000-72783200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:72783000-72783200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
36	chr2:72783000-72783400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:72783000-72783400	ZNF genes & repeats	Aorta	Aorta
38	chr2:72783000-72783400	ZNF genes & repeats	HSMMtube	muscle
39	chr2:72783000-72783600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:72783000-72783600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
41	chr2:72783000-72783600	ZNF genes & repeats	Brain Hippocampus Middle	brain
42	chr2:72783000-72783600	ZNF genes & repeats	Fetal Lung	lung
43	chr2:72783000-72783600	ZNF genes & repeats	A549	lung
44	chr2:72783200-72783400	ZNF genes & repeats	Esophagus	oesophagus
45	chr2:72783200-72783400	ZNF genes & repeats	Left Ventricle	heart
46	chr2:72783200-72783600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
47	chr2:72783200-72783600	ZNF genes & repeats	Fetal Brain Female	brain
48	chr2:72783200-72784000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
49	chr2:72783200-72784000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:72783200-72789000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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