Variant report

Variant	esv3337128
Chromosome Location	chr2:132998465-133003356
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	chr13:24087086..24087588-chr2:133003343..133003844,2	MCF-7	breast:
2	chr2:133002822..133003517-chr9:122570668..122571483,2	MCF-7	breast:

Extended variants
information (count: 846 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:846 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201791709	chr2:132998467-132998468	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs139919519	chr2:132998468-132998469	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs201285905	chr2:132998472-132998473	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs145189397	chr2:132998473-132998474	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs62163973	chr2:132998484-132998485	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs541550523	chr2:132998485-132998486	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs566544167	chr2:132998491-132998492	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs199972852	chr2:132998495-132998496	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs200880337	chr2:132998498-132998499	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs62163974	chr2:132998502-132998503	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs62163975	chr2:132998529-132998530	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs111342616	chr2:132998534-132998535	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs533113203	chr2:132998535-132998536	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs200253102	chr2:132998540-132998541	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs368907485	chr2:132998543-132998544	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs530377276	chr2:132998551-132998552	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs62163976	chr2:132998552-132998553	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs185634830	chr2:132998554-132998555	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs202191607	chr2:132998558-132998559	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs200428372	chr2:132998559-132998560	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs10201322	chr2:132998567-132998568	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs112857667	chr2:132998580-132998581	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs146032351	chr2:132998588-132998589	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs77195508	chr2:132998614-132998615	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs200740103	chr2:132998617-132998618	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs200237852	chr2:132998619-132998620	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs202147039	chr2:132998623-132998624	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs201352788	chr2:132998625-132998626	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs199686775	chr2:132998628-132998629	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs190510482	chr2:132998641-132998642	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs528680670	chr2:132998654-132998655	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs76747480	chr2:132998656-132998657	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs74566585	chr2:132998657-132998658	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs71206305	chr2:132998666-132998667	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs76166663	chr2:132998670-132998671	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs377014572	chr2:132998675-132998676	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs371592552	chr2:132998688-132998689	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs112817286	chr2:132998690-132998691	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs145337461	chr2:132998691-132998692	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs117043536	chr2:132998697-132998698	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs558112017	chr2:132998701-132998702	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs149500181	chr2:132998712-132998713	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs148596049	chr2:132998714-132998715	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs146459330	chr2:132998715-132998716	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs141746224	chr2:132998719-132998720	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs139177680	chr2:132998722-132998723	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs144398304	chr2:132998724-132998725	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs374409722	chr2:132998733-132998734	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs180740407	chr2:132998738-132998739	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs140111325	chr2:132998739-132998740	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132994800-133000800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
2	chr2:132994800-133008800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr2:132994800-133009800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:132995000-133005000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr2:132996000-133009800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr2:132996200-132998600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:132996200-132998600	ZNF genes & repeats	Hela-S3	cervix
8	chr2:132996200-132999000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr2:132996200-132999200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr2:132996200-133000200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr2:132996200-133000200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
12	chr2:132996200-133000400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:132996200-133000400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:132996200-133000600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
15	chr2:132996200-133000600	ZNF genes & repeats	Liver	Liver
16	chr2:132996200-133005200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr2:132996200-133008600	ZNF genes & repeats	Primary T cells from cord blood	blood
18	chr2:132996600-132999800	Weak transcription	A549	lung
19	chr2:132996600-132999800	Weak transcription	NHLF	lung
20	chr2:132996600-133003400	Weak transcription	NHEK	skin
21	chr2:132996800-132999800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:132996800-132999800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:132997400-132998800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:132997600-132999800	Weak transcription	K562	blood
25	chr2:132997800-132999800	Weak transcription	Ovary	ovary
26	chr2:132998200-132999000	Active TSS	Aorta	Aorta
27	chr2:132998200-132999600	Weak transcription	Right Atrium	heart
28	chr2:132998200-133000200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:132998200-133000200	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr2:132998200-133000200	ZNF genes & repeats	Fetal Brain Male	brain
31	chr2:132998400-132998600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:132998400-132998600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:132998400-132998600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
34	chr2:132998400-132998600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
35	chr2:132998400-132998600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
36	chr2:132998400-132998600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:132998400-132998600	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
38	chr2:132998400-132998800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
39	chr2:132998400-132998800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
40	chr2:132998400-132999000	ZNF genes & repeats	HUVEC	blood vessel
41	chr2:132998400-132999800	Weak transcription	NH-A	brain
42	chr2:132998600-132999800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:132998600-132999800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:132998600-132999800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:132998600-132999800	Weak transcription	Hela-S3	cervix
46	chr2:132998800-133000400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
47	chr2:132999000-132999800	Weak transcription	Aorta	Aorta
48	chr2:132999000-132999800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:132999000-132999800	Weak transcription	HUVEC	blood vessel
50	chr2:132999800-133000000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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