Variant report

Variant	esv1396479
Chromosome Location	chr2:64316614-64316615
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:64316350-64320106	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64316021..64319950-chr2:64320900..64323334,4	K562	blood:
2	chr2:64315474..64318085-chr2:64320703..64322833,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGP2-3	chr2:64316482-64318014	NONHSAT071087

Variant related genes	Relation type
ENSG00000228079	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 61 )

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	rs200686006	chr2:64316614-64316615	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64302000-64318200	Weak transcription	Fetal Intestine Large	intestine
2	chr2:64303400-64318400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:64303800-64318400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:64304200-64321600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:64305800-64318000	Weak transcription	Fetal Intestine Small	intestine
6	chr2:64307000-64318400	Weak transcription	Placenta	Placenta
7	chr2:64307600-64318400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:64309600-64317200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:64309600-64320800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:64311400-64321800	Weak transcription	Small Intestine	intestine
11	chr2:64311800-64316800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:64311800-64321200	Weak transcription	K562	blood
13	chr2:64311800-64321800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:64311800-64321800	Weak transcription	Brain Germinal Matrix	brain
15	chr2:64312000-64317200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:64312200-64318400	Weak transcription	Liver	Liver
17	chr2:64312800-64321200	Weak transcription	Psoas Muscle	Psoas
18	chr2:64313200-64321200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:64313200-64321400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:64313200-64321600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:64313200-64321800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:64313200-64341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:64313400-64318400	Weak transcription	Adipose Nuclei	Adipose
24	chr2:64313400-64321800	Weak transcription	Brain Angular Gyrus	brain
25	chr2:64313400-64321800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:64313600-64317800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:64313600-64320600	Weak transcription	Fetal Lung	lung
28	chr2:64313600-64321800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:64313600-64323000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr2:64313800-64317000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr2:64313800-64321800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:64313800-64321800	Weak transcription	NH-A	brain
33	chr2:64314200-64318400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:64314200-64321800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:64314200-64321800	Weak transcription	Pancreas	Pancrea
36	chr2:64314400-64321200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:64314400-64325000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:64314600-64316800	Weak transcription	GM12878-XiMat	blood
39	chr2:64315000-64316800	Weak transcription	Fetal Thymus	thymus
40	chr2:64315000-64317000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:64315000-64321800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:64315200-64316800	Weak transcription	Primary T cells from cord blood	blood
43	chr2:64315200-64317200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr2:64315200-64318400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:64315200-64321800	Weak transcription	Stomach Mucosa	stomach
46	chr2:64315400-64317200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:64315400-64317200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:64315400-64317800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr2:64315400-64318600	Weak transcription	Fetal Brain Female	brain
50	chr2:64315400-64321800	Weak transcription	HSMMtube	muscle

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