Variant report

Variant	esv3423533
Chromosome Location	chr2:149102082-149104280
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548865113	chr2:149102112-149102113	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112506005	chr2:149102138-149102139	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554779077	chr2:149102178-149102179	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573095053	chr2:149102195-149102196	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188258472	chr2:149102216-149102217	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs202137982	chr2:149102224-149102225	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs137929234	chr2:149102279-149102280	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs565728419	chr2:149102426-149102427	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs2938705	chr2:149102437-149102438	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs562863453	chr2:149102461-149102462	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs538741267	chr2:149102499-149102500	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs181072611	chr2:149102506-149102507	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs78884656	chr2:149102545-149102546	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs185327722	chr2:149102562-149102563	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs558353270	chr2:149102563-149102564	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs527478969	chr2:149102567-149102568	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs552502329	chr2:149102580-149102581	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs115911484	chr2:149102597-149102598	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs191824988	chr2:149102598-149102599	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs549719724	chr2:149102603-149102604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368784902	chr2:149102623-149102624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs16828565	chr2:149102634-149102635	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs535580046	chr2:149102655-149102656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142987766	chr2:149102663-149102664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566728871	chr2:149102667-149102668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534725413	chr2:149102699-149102700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534088809	chr2:149102709-149102710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62183965	chr2:149102712-149102713	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs577439605	chr2:149102713-149102714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568053433	chr2:149102733-149102734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534779115	chr2:149102740-149102741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574788770	chr2:149102749-149102750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72857677	chr2:149102757-149102758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184111393	chr2:149102763-149102764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72857679	chr2:149102770-149102771	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs140072047	chr2:149102771-149102772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371081983	chr2:149102779-149102780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373515758	chr2:149102781-149102782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560524357	chr2:149102784-149102785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199545989	chr2:149102786-149102787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368914958	chr2:149102790-149102791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114355052	chr2:149102794-149102795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545984986	chr2:149102822-149102823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192018559	chr2:149102823-149102824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72857680	chr2:149102859-149102860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs549801069	chr2:149102877-149102878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182490595	chr2:149102881-149102882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528813657	chr2:149102885-149102886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142787622	chr2:149102886-149102887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187180760	chr2:149102887-149102888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	19904302	CNVD
Intellectual disability	19904302	CNVD
Microcephaly	19904302	CNVD
severe speech impairment	19904302	CNVD
Mental retardation	20152051	CNVD
2q23.1 microdeletion syndrome	18812405	CNVD
Mental retardation	19809484	CNVD
Autism	21981781	CNVD
Mental retardation	17847001	CNVD
Hodgkin''s lymphoma	18179710	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149071000-149105000	Weak transcription	Thymus	Thymus
2	chr2:149089200-149119400	Weak transcription	Fetal Intestine Small	intestine
3	chr2:149089600-149105400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:149090000-149104200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr2:149093000-149103400	Weak transcription	Aorta	Aorta
6	chr2:149093200-149102400	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:149093200-149104000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr2:149094600-149102400	Weak transcription	Fetal Thymus	thymus
9	chr2:149094600-149115400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:149094600-149119800	Weak transcription	Fetal Stomach	stomach
11	chr2:149095000-149103400	Weak transcription	Spleen	Spleen
12	chr2:149095200-149110200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:149095600-149107000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:149096600-149103200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:149096800-149120800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:149097000-149107600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:149097200-149103800	Weak transcription	Lung	lung
18	chr2:149100400-149102200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr2:149100400-149102600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:149100400-149102800	Strong transcription	Primary B cells from cord blood	blood
21	chr2:149100800-149102200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:149100800-149102200	Weak transcription	Fetal Heart	heart
23	chr2:149100800-149102400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:149100800-149102800	Weak transcription	Ovary	ovary
25	chr2:149100800-149103200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:149100800-149106000	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:149100800-149106200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:149100800-149107800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:149100800-149108800	Weak transcription	Small Intestine	intestine
30	chr2:149100800-149109400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:149100800-149109600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr2:149100800-149110800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:149100800-149111800	Weak transcription	Left Ventricle	heart
34	chr2:149100800-149137000	Weak transcription	Primary T cells from cord blood	blood
35	chr2:149101000-149104600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr2:149101000-149126000	Weak transcription	Psoas Muscle	Psoas
37	chr2:149101200-149106000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:149101200-149107400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:149101200-149107600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:149101400-149103400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr2:149101400-149105600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:149101400-149105800	Weak transcription	HSMM	muscle
43	chr2:149101600-149105800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:149101800-149107400	Weak transcription	Fetal Lung	lung
45	chr2:149101800-149115400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:149102200-149110800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:149102600-149109200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:149102800-149136600	Weak transcription	Primary B cells from cord blood	blood
49	chr2:149103400-149103600	ZNF genes & repeats	Aorta	Aorta
50	chr2:149103400-149103600	Enhancers	Spleen	Spleen

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