Variant report

Variant	esv3415682
Chromosome Location	chr2:132987349-133000206
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	chr14:36364915..36365415-chr2:132994676..132995179,2	MCF-7	breast:
2	chr2:132994674..132995196-chrX:58560687..58561212,3	MCF-7	breast:

Extended variants
information (count: 1490 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1490 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544563652	chr2:132987354-132987355	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79361326	chr2:132987358-132987359	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75101450	chr2:132987368-132987369	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560431238	chr2:132987376-132987377	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79672765	chr2:132987382-132987383	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79216015	chr2:132987383-132987384	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78500911	chr2:132987386-132987387	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192855276	chr2:132987396-132987397	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111292604	chr2:132987400-132987401	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201852317	chr2:132987442-132987443	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527959779	chr2:132987450-132987451	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375804758	chr2:132987469-132987470	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79948892	chr2:132987472-132987473	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567885374	chr2:132987475-132987476	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74778257	chr2:132987480-132987481	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201462437	chr2:132987494-132987495	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78733793	chr2:132987503-132987504	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550342447	chr2:132987504-132987505	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76703997	chr2:132987508-132987509	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571719542	chr2:132987526-132987527	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74385019	chr2:132987528-132987529	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571243071	chr2:132987533-132987534	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199895985	chr2:132987543-132987544	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75249604	chr2:132987544-132987545	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577607641	chr2:132987554-132987555	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112165932	chr2:132987568-132987569	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113790405	chr2:132987584-132987585	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62166106	chr2:132987601-132987602	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566793511	chr2:132987602-132987603	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534120821	chr2:132987639-132987640	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555366026	chr2:132987648-132987649	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113851942	chr2:132987658-132987659	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200636521	chr2:132987689-132987690	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148979064	chr2:132987715-132987716	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537597519	chr2:132987735-132987736	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62166107	chr2:132987744-132987745	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202061921	chr2:132987751-132987752	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200347762	chr2:132987755-132987756	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555850324	chr2:132987757-132987758	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201517884	chr2:132987758-132987759	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199503371	chr2:132987767-132987768	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6712620	chr2:132987769-132987770	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544628927	chr2:132987778-132987779	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200653359	chr2:132987779-132987780	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377121543	chr2:132987782-132987783	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369557713	chr2:132987783-132987784	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201055466	chr2:132987784-132987785	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375853011	chr2:132987789-132987790	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377729458	chr2:132987791-132987792	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543344721	chr2:132987804-132987805	ZNF genes & repeats Weak transcription Enhancers	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:293 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132976800-132996200	Weak transcription	NHEK	skin
2	chr2:132984000-132994800	Weak transcription	K562	blood
3	chr2:132985400-132987600	Weak transcription	HSMMtube	muscle
4	chr2:132985400-132987600	Weak transcription	HUVEC	blood vessel
5	chr2:132985600-132987400	Weak transcription	Osteobl	bone
6	chr2:132986600-132988400	ZNF genes & repeats	Primary T cells from cord blood	blood
7	chr2:132986600-132988600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr2:132986800-132987400	ZNF genes & repeats	Brain Hippocampus Middle	brain
9	chr2:132986800-132987600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr2:132986800-132988000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:132986800-132988000	ZNF genes & repeats	Left Ventricle	heart
12	chr2:132986800-132988200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr2:132986800-132988200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
14	chr2:132986800-132988200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
15	chr2:132986800-132988200	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr2:132986800-132988200	ZNF genes & repeats	Liver	Liver
17	chr2:132986800-132988200	ZNF genes & repeats	GM12878-XiMat	blood
18	chr2:132986800-132988400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr2:132986800-132988400	ZNF genes & repeats	Fetal Brain Male	brain
20	chr2:132986800-132988400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
21	chr2:132986800-132989000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:132987000-132987600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:132987000-132988200	ZNF genes & repeats	NH-A	brain
24	chr2:132987200-132987800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:132987200-132987800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr2:132987200-132995000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr2:132987400-132987800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:132987400-132988200	ZNF genes & repeats	Dnd41	blood
29	chr2:132987600-132988000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
30	chr2:132987600-132988200	ZNF genes & repeats	HSMMtube	muscle
31	chr2:132987600-132988400	ZNF genes & repeats	HUVEC	blood vessel
32	chr2:132987800-132988000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr2:132987800-132988000	ZNF genes & repeats	Brain Angular Gyrus	brain
34	chr2:132987800-132988200	ZNF genes & repeats	Osteobl	bone
35	chr2:132987800-132994800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:132988000-132988400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:132988000-132996200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:132988200-132994800	Weak transcription	Dnd41	blood
39	chr2:132988200-132994800	Weak transcription	GM12878-XiMat	blood
40	chr2:132988200-132994800	Weak transcription	HSMMtube	muscle
41	chr2:132988200-132994800	Weak transcription	NH-A	brain
42	chr2:132988200-132994800	Weak transcription	Osteobl	bone
43	chr2:132988400-132994800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr2:132988400-132994800	Weak transcription	HUVEC	blood vessel
45	chr2:132989000-132989400	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr2:132989000-132989400	Active TSS	H9 Cell Line	embryonic stem cell
47	chr2:132989000-132994800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:132994400-132994800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:132994800-132995200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:132994800-132995200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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