Variant report

Variant	esv3417994
Chromosome Location	chr2:73659488-73660321
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	chr2:73461421..73463071-chr2:73657940..73659619,2	MCF-7	breast:
2	chr2:73612204..73614467-chr2:73659313..73661505,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135624	chromatin interactions
ENSG00000116127	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114424447	chr2:73659532-73659533	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs527863698	chr2:73659562-73659563	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs386647336	chr2:73659573-73659574	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs386647337	chr2:73659586-73659587	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs201693441	chr2:73659608-73659609	Active TSS Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs549735519	chr2:73659637-73659638	Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs75470002	chr2:73659666-73659667	Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs556588311	chr2:73659711-73659712	Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs144513601	chr2:73659729-73659730	Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12713782	chr2:73659734-73659735	Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539143491	chr2:73659737-73659738	Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547119505	chr2:73659749-73659750	Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148135948	chr2:73659767-73659768	Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs186978986	chr2:73659817-73659818	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs573030016	chr2:73659840-73659841	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs540029526	chr2:73659868-73659869	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs555288576	chr2:73659882-73659883	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs561002401	chr2:73659893-73659894	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs544063786	chr2:73659919-73659920	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562162486	chr2:73659929-73659930	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs75361602	chr2:73659955-73659956	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs545119226	chr2:73659963-73659964	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs559980908	chr2:73659964-73659965	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs191808947	chr2:73659972-73659973	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs551087723	chr2:73660031-73660032	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs78493639	chr2:73660044-73660045	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs567816943	chr2:73660103-73660104	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs181360965	chr2:73660141-73660142	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs76397736	chr2:73660171-73660172	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs148427078	chr2:73660287-73660288	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	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
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73622800-73662800	Weak transcription	Right Ventricle	heart
2	chr2:73626800-73662600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:73626800-73662800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:73626800-73662800	Weak transcription	Aorta	Aorta
5	chr2:73626800-73663400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:73626800-73664000	Weak transcription	Thymus	Thymus
7	chr2:73627400-73664400	Weak transcription	Pancreas	Pancrea
8	chr2:73628800-73663000	Weak transcription	Hela-S3	cervix
9	chr2:73631400-73659800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:73633200-73662800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:73634000-73661400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:73634000-73663200	Weak transcription	Psoas Muscle	Psoas
13	chr2:73634400-73662000	Weak transcription	Lung	lung
14	chr2:73634400-73662800	Weak transcription	Esophagus	oesophagus
15	chr2:73634600-73661800	Weak transcription	Brain Germinal Matrix	brain
16	chr2:73634800-73659600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:73635600-73659600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:73637200-73659600	Weak transcription	GM12878-XiMat	blood
19	chr2:73637600-73662800	Weak transcription	Fetal Stomach	stomach
20	chr2:73637800-73662400	Weak transcription	A549	lung
21	chr2:73637800-73663600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr2:73637800-73676200	Weak transcription	Fetal Brain Male	brain
23	chr2:73638600-73661400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:73639200-73675400	Weak transcription	HMEC	breast
25	chr2:73642200-73666000	Weak transcription	NHLF	lung
26	chr2:73643400-73663000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:73644600-73662800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:73645400-73662600	Weak transcription	Brain Substantia Nigra	brain
29	chr2:73645400-73675200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:73645600-73661800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:73645600-73663000	Weak transcription	NHDF-Ad	bronchial
32	chr2:73645600-73675200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:73645600-73676600	Weak transcription	NH-A	brain
34	chr2:73645600-73685600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:73645800-73662600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:73645800-73662800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:73646000-73659600	Weak transcription	Brain Angular Gyrus	brain
38	chr2:73646000-73664000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:73646200-73661400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:73646200-73661800	Strong transcription	Dnd41	blood
41	chr2:73646200-73662800	Weak transcription	Brain Anterior Caudate	brain
42	chr2:73646400-73659600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:73646400-73659600	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:73646400-73675200	Weak transcription	Osteobl	bone
45	chr2:73646600-73662600	Weak transcription	Fetal Brain Female	brain
46	chr2:73646600-73662800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:73646600-73663400	Weak transcription	Fetal Heart	heart
48	chr2:73646600-73664200	Weak transcription	Small Intestine	intestine
49	chr2:73646800-73662600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr2:73646800-73662800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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