Variant report

Variant	esv3415689
Chromosome Location	chr2:36959846-36960253
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	chr2:36956863..36959854-chr2:36963372..36965753,3	MCF-7	breast:
2	chr2:36959452..36962419-chr2:36962892..36964794,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1015696	chr2:36959860-36959861	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566000876	chr2:36959868-36959869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376577310	chr2:36959872-36959873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1015695	chr2:36959885-36959886	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs551179017	chr2:36959897-36959898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542169110	chr2:36959904-36959905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561223901	chr2:36959905-36959906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371904143	chr2:36959959-36959960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181990652	chr2:36959982-36959983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72783168	chr2:36959998-36959999	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs79618036	chr2:36960017-36960018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150093987	chr2:36960085-36960086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534933966	chr2:36960092-36960093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561516206	chr2:36960134-36960135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138511788	chr2:36960165-36960166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543893042	chr2:36960229-36960230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs66773952	chr2:36960248-36960249	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22737080	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36941000-36960200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:36942600-36968800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:36958000-36962000	Enhancers	Hela-S3	cervix
4	chr2:36958000-36968200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:36958000-36970800	Weak transcription	Ovary	ovary
6	chr2:36958200-36960600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:36958200-36963600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:36958800-36960200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:36958800-36960200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:36958800-36961000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:36958800-36961000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:36958800-36961600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:36959000-36960000	Enhancers	Osteobl	bone
14	chr2:36959000-36960400	Enhancers	Placenta	Placenta
15	chr2:36959000-36960400	Enhancers	Fetal Stomach	stomach
16	chr2:36959200-36960000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:36959200-36960200	Enhancers	NHDF-Ad	bronchial
18	chr2:36959600-36960000	Enhancers	NHEK	skin
19	chr2:36959600-36960400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:36959600-36960600	Enhancers	Fetal Muscle Leg	muscle
21	chr2:36959800-36960000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr2:36959800-36960400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr2:36960000-36961000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:36960000-36961200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:36960000-36961400	Weak transcription	Osteobl	bone
26	chr2:36960200-36960400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:36960200-36960600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr2:36960200-36960800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:36960200-36961200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:36960200-36980400	Weak transcription	NHDF-Ad	bronchial

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