Variant report

Variant	esv3326309
Chromosome Location	chr2:132985287-132997486
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: 1285 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1285 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74597235	chr2:132985315-132985316	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78314070	chr2:132985317-132985318	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202045357	chr2:132985325-132985326	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79344743	chr2:132985341-132985342	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs80089731	chr2:132985346-132985347	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548445055	chr2:132985350-132985351	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202020606	chr2:132985351-132985352	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371529387	chr2:132985352-132985353	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530725232	chr2:132985353-132985354	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552348118	chr2:132985359-132985360	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576046691	chr2:132985370-132985371	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111649830	chr2:132985375-132985376	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75188942	chr2:132985378-132985379	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534612656	chr2:132985391-132985392	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552971168	chr2:132985393-132985394	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150905184	chr2:132985410-132985411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113961483	chr2:132985413-132985414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188133397	chr2:132985429-132985430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13395994	chr2:132985460-132985461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs201170440	chr2:132985461-132985462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575788247	chr2:132985467-132985468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112852551	chr2:132985484-132985485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539639500	chr2:132985485-132985486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557830968	chr2:132985488-132985489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112033466	chr2:132985494-132985495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201967881	chr2:132985504-132985505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200260901	chr2:132985508-132985509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201408118	chr2:132985532-132985533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191493832	chr2:132985533-132985534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540246872	chr2:132985543-132985544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199942131	chr2:132985588-132985589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561970505	chr2:132985591-132985592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184054889	chr2:132985594-132985595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4063207	chr2:132985596-132985597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13420921	chr2:132985611-132985612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4063206	chr2:132985612-132985613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3968811	chr2:132985632-132985633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181297662	chr2:132985634-132985635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2315225	chr2:132985637-132985638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189760953	chr2:132985676-132985677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2872862	chr2:132985689-132985690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3065520	chr2:132985698-132985699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369818624	chr2:132985699-132985700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181424422	chr2:132985708-132985709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74837229	chr2:132985757-132985758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564186863	chr2:132985764-132985765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4484805	chr2:132985780-132985781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77477362	chr2:132985782-132985783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528167436	chr2:132985797-132985798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543873056	chr2:132985799-132985800	Weak transcription	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:267 , 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	chr2:132980400-132985400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr2:132980400-132985400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr2:132984000-132994800	Weak transcription	K562	blood
5	chr2:132984200-132985400	ZNF genes & repeats	Fetal Brain Male	brain
6	chr2:132984400-132985400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr2:132985000-132985400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:132985000-132985400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:132985000-132985400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr2:132985000-132985400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:132985000-132985400	ZNF genes & repeats	Liver	Liver
12	chr2:132985000-132985400	ZNF genes & repeats	Psoas Muscle	Psoas
13	chr2:132985000-132985400	ZNF genes & repeats	HSMMtube	muscle
14	chr2:132985000-132985400	ZNF genes & repeats	HUVEC	blood vessel
15	chr2:132985000-132985400	ZNF genes & repeats	NH-A	brain
16	chr2:132985200-132985400	ZNF genes & repeats	Dnd41	blood
17	chr2:132985200-132985400	ZNF genes & repeats	NHDF-Ad	bronchial
18	chr2:132985400-132986600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:132985400-132986600	Weak transcription	Dnd41	blood
20	chr2:132985400-132986800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:132985400-132986800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:132985400-132986800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:132985400-132986800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:132985400-132986800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:132985400-132986800	Weak transcription	Liver	Liver
26	chr2:132985400-132986800	Weak transcription	Fetal Brain Male	brain
27	chr2:132985400-132986800	Weak transcription	Psoas Muscle	Psoas
28	chr2:132985400-132987000	Weak transcription	NH-A	brain
29	chr2:132985400-132987600	Weak transcription	HSMMtube	muscle
30	chr2:132985400-132987600	Weak transcription	HUVEC	blood vessel
31	chr2:132985600-132987400	Weak transcription	Osteobl	bone
32	chr2:132986200-132986600	Weak transcription	Aorta	Aorta
33	chr2:132986600-132986800	Enhancers	Aorta	Aorta
34	chr2:132986600-132988400	ZNF genes & repeats	Primary T cells from cord blood	blood
35	chr2:132986600-132988600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
36	chr2:132986800-132987000	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:132986800-132987000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr2:132986800-132987000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
39	chr2:132986800-132987000	ZNF genes & repeats	Dnd41	blood
40	chr2:132986800-132987200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
41	chr2:132986800-132987200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:132986800-132987200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:132986800-132987200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:132986800-132987200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
45	chr2:132986800-132987200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
46	chr2:132986800-132987200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:132986800-132987200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:132986800-132987200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
49	chr2:132986800-132987200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
50	chr2:132986800-132987200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood

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