Variant report

Variant	esv3429281
Chromosome Location	chr2:72590346-72623676
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:72615828..72618063-chr2:72620028..72621701,2	MCF-7	breast:
2	chr2:72616102..72617981-chr2:72733250..72735254,2	K562	blood:
3	chr2:72615828..72618063-chr2:72620028..72621701,2	MCF-7	breast:
4	chr2:72607420..72609302-chr2:72612337..72614241,2	MCF-7	breast:
5	chr2:72377572..72378539-chr2:72594368..72595601,4	MCF-7	breast:
6	chr2:72613280..72613780-chr8:19325545..19326087,2	MCF-7	breast:
7	chr2:72607420..72609302-chr2:72612337..72614241,2	MCF-7	breast:

Extended variants
information (count: 1061 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1061 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542561101	chr2:72590390-72590391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142529132	chr2:72590448-72590449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558815029	chr2:72590493-72590494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182210877	chr2:72590515-72590516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370000599	chr2:72590557-72590558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541135971	chr2:72590577-72590578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559786098	chr2:72590597-72590598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76307397	chr2:72590696-72590697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565740332	chr2:72590726-72590727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574540722	chr2:72590727-72590728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530072765	chr2:72590736-72590737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146914454	chr2:72590741-72590742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563967940	chr2:72590754-72590755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531040646	chr2:72590945-72590946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552722005	chr2:72591013-72591014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553639312	chr2:72591044-72591045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115054521	chr2:72591051-72591052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139328887	chr2:72591093-72591094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185591863	chr2:72591218-72591219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377355802	chr2:72591260-72591261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565348019	chr2:72591273-72591274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535837120	chr2:72591332-72591333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554492745	chr2:72591391-72591392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575847941	chr2:72591450-72591451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574838206	chr2:72591513-72591514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149423922	chr2:72591557-72591558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536911665	chr2:72591562-72591563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558735210	chr2:72591681-72591682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576915807	chr2:72591686-72591687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541544944	chr2:72591746-72591747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553493631	chr2:72591760-72591761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574932472	chr2:72591862-72591863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116696978	chr2:72591877-72591878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370631403	chr2:72591887-72591888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564004952	chr2:72591913-72591914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531252340	chr2:72591933-72591934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544789008	chr2:72591946-72591947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546152553	chr2:72591984-72591985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143454982	chr2:72592010-72592011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528637363	chr2:72592123-72592124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189047297	chr2:72592223-72592224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10188321	chr2:72592228-72592229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs680495	chr2:72592238-72592239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs80185774	chr2:72592239-72592240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372979751	chr2:72592242-72592243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547412146	chr2:72592273-72592274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs137863396	chr2:72592283-72592284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369551337	chr2:72592304-72592305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537351447	chr2:72592315-72592316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552144832	chr2:72592324-72592325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72531200-72594800	Weak transcription	Esophagus	oesophagus
2	chr2:72553800-72594600	Weak transcription	Aorta	Aorta
3	chr2:72559200-72607400	Weak transcription	Liver	Liver
4	chr2:72560600-72594800	Weak transcription	Pancreas	Pancrea
5	chr2:72572200-72601400	Weak transcription	Adipose Nuclei	Adipose
6	chr2:72572200-72607200	Weak transcription	Psoas Muscle	Psoas
7	chr2:72573600-72595000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:72574200-72594800	Weak transcription	Placenta	Placenta
9	chr2:72576600-72594800	Weak transcription	Right Ventricle	heart
10	chr2:72576600-72605200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:72578000-72606400	Weak transcription	HSMM	muscle
12	chr2:72578800-72594600	Weak transcription	HMEC	breast
13	chr2:72579000-72598400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:72579200-72594600	Weak transcription	NHEK	skin
15	chr2:72579200-72601800	Weak transcription	Spleen	Spleen
16	chr2:72579400-72594600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:72579400-72600400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:72579600-72594800	Weak transcription	Left Ventricle	heart
19	chr2:72580200-72605200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:72581600-72607800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:72582600-72605400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:72585000-72599600	Weak transcription	Ovary	ovary
23	chr2:72585600-72594600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:72587600-72594800	Weak transcription	Fetal Stomach	stomach
25	chr2:72589000-72591200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:72590200-72604200	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:72592600-72594600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:72592600-72613400	Weak transcription	Gastric	stomach
29	chr2:72594200-72608400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:72594400-72594600	Enhancers	A549	lung
31	chr2:72594400-72607200	Weak transcription	Brain Substantia Nigra	brain
32	chr2:72594600-72595000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:72594600-72595000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:72594600-72595000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:72594600-72595000	Enhancers	Aorta	Aorta
36	chr2:72594600-72595000	Enhancers	HMEC	breast
37	chr2:72594600-72595200	Enhancers	H9 Cell Line	embryonic stem cell
38	chr2:72594600-72595200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:72594600-72595200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr2:72594600-72595200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr2:72594600-72595200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:72594600-72595200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:72594600-72595200	Enhancers	Right Atrium	heart
44	chr2:72594600-72595200	Flanking Active TSS	A549	lung
45	chr2:72594600-72595200	Enhancers	NHEK	skin
46	chr2:72594600-72595400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:72594800-72595000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:72594800-72595000	Enhancers	Esophagus	oesophagus
49	chr2:72594800-72595200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr2:72594800-72595200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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