Variant report

Variant	esv3365009
Chromosome Location	chr2:72950419-72950860
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	chr2:72034767..72037407-chr2:72950731..72952275,2	MCF-7	breast:
2	chr2:72949375..72951848-chr2:72956840..72958572,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188135691	chr2:72950443-72950444	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs562577944	chr2:72950458-72950459	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs180899707	chr2:72950470-72950471	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs143190296	chr2:72950496-72950497	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs184802916	chr2:72950527-72950528	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs35856721	chr2:72950595-72950596	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs560145187	chr2:72950622-72950623	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs189592974	chr2:72950777-72950778	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs374304116	chr2:72950791-72950792	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs549070398	chr2:72950793-72950794	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs567332267	chr2:72950798-72950799	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs59216875	chr2:72950810-72950811	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:51)

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
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72905800-72984400	Weak transcription	Aorta	Aorta
2	chr2:72922400-72972000	Weak transcription	Right Ventricle	heart
3	chr2:72922400-72976200	Weak transcription	Psoas Muscle	Psoas
4	chr2:72922600-72951000	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:72923000-72972800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:72923000-73008600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:72923600-72958200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:72929000-72951200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:72937200-72974200	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:72937800-72978400	Weak transcription	Brain Germinal Matrix	brain
11	chr2:72938200-72987800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:72938600-72950800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:72940600-72959600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:72941400-72970000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:72943600-72978800	Weak transcription	Primary T cells from cord blood	blood
16	chr2:72945400-72968000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:72945600-72977800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:72946400-72961200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:72946400-72974600	Weak transcription	Brain Substantia Nigra	brain
20	chr2:72946600-72969800	Weak transcription	Placenta	Placenta
21	chr2:72946600-72972800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:72946800-72951000	Weak transcription	Small Intestine	intestine
23	chr2:72946800-72951200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:72946800-72951200	Weak transcription	Ovary	ovary
25	chr2:72946800-72951200	Weak transcription	Pancreas	Pancrea
26	chr2:72946800-72956200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:72946800-72960800	Weak transcription	Lung	lung
28	chr2:72946800-72971000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:72946800-72980200	Weak transcription	Left Ventricle	heart
30	chr2:72947000-72951000	Weak transcription	Brain Anterior Caudate	brain
31	chr2:72947000-72951200	Weak transcription	Fetal Heart	heart
32	chr2:72948400-72955400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:72948400-72968400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:72949200-72950800	Enhancers	HepG2	liver
35	chr2:72949400-72950600	Enhancers	NHLF	lung
36	chr2:72949400-72951000	Enhancers	NHDF-Ad	bronchial
37	chr2:72949400-72951200	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr2:72949600-72951000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:72949800-72950600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:72949800-72950600	Flanking Active TSS	Fetal Lung	lung
41	chr2:72949800-72950800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:72949800-72951000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:72949800-72951800	Enhancers	Fetal Intestine Small	intestine
44	chr2:72950000-72951200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr2:72950000-72951200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr2:72950000-72951400	Enhancers	Fetal Stomach	stomach
47	chr2:72950000-72951800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:72950000-72982400	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:72950200-72950600	Enhancers	HSMM	muscle
50	chr2:72950200-72951600	Flanking Active TSS	Liver	Liver

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