Variant report

Variant	nsv194200
Chromosome Location	chr2:72405827-72405827
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	chr2:72403994..72406208-chr2:72407715..72409374,2	K562	blood:
2	chr2:72333139..72335001-chr2:72404125..72406066,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DYSF-12	chr2:72402989-72405839	NONHSAT071575

Extended variants
information (count: 1 )
Associated
traits (count: 52 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41414	chr2:72405827-72405828	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72393400-72407600	Weak transcription	HMEC	breast
2	chr2:72393600-72414800	Weak transcription	NHEK	skin
3	chr2:72394400-72409800	Weak transcription	A549	lung
4	chr2:72398400-72407400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:72400600-72406400	Weak transcription	Fetal Brain Male	brain
6	chr2:72400800-72414000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:72401000-72407000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:72401000-72407800	Strong transcription	Fetal Stomach	stomach
9	chr2:72401200-72406000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:72401200-72406000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:72401200-72407600	Strong transcription	Fetal Brain Female	brain
12	chr2:72401200-72409600	Weak transcription	Spleen	Spleen
13	chr2:72401400-72409000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:72401600-72407200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:72401600-72409400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:72401600-72411600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:72401600-72414000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:72401600-72415200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:72401800-72407000	Strong transcription	Brain Hippocampus Middle	brain
20	chr2:72401800-72407600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:72401800-72407600	Strong transcription	Left Ventricle	heart
22	chr2:72402000-72406200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:72402000-72406400	Strong transcription	Brain Anterior Caudate	brain
24	chr2:72402000-72410400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:72402200-72406400	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:72402200-72406600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:72402200-72406600	Strong transcription	Placenta	Placenta
28	chr2:72402200-72406800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:72402200-72410400	Weak transcription	Psoas Muscle	Psoas
30	chr2:72402200-72412200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:72402400-72406400	Strong transcription	Fetal Muscle Leg	muscle
32	chr2:72402400-72406600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:72402400-72407200	Strong transcription	Adipose Nuclei	Adipose
34	chr2:72402400-72407400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:72402600-72406400	Strong transcription	Primary T cells from cord blood	blood
36	chr2:72402600-72407200	Strong transcription	Aorta	Aorta
37	chr2:72402600-72407400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:72402600-72410400	Weak transcription	Small Intestine	intestine
39	chr2:72402800-72407000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:72403000-72406400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:72403000-72408800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr2:72403000-72410200	Weak transcription	Fetal Kidney	kidney
43	chr2:72403200-72408000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:72403200-72408800	Weak transcription	Colonic Mucosa	Colon
45	chr2:72403400-72406400	Strong transcription	Fetal Intestine Large	intestine
46	chr2:72403400-72406600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:72403400-72406600	Strong transcription	Duodenum Mucosa	Duodenum
48	chr2:72403400-72409000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:72403400-72414200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:72403600-72406800	Weak transcription	Primary T cells fromperipheralblood	blood

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