Variant report

Variant	esv3326638
Chromosome Location	chr2:132977794-132996009
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: 1945 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1945 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566436674	chr2:132977805-132977806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201223532	chr2:132977807-132977808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113770103	chr2:132977810-132977811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534859425	chr2:132977814-132977815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375396097	chr2:132977815-132977816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367864765	chr2:132977817-132977818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181933693	chr2:132977818-132977819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186589384	chr2:132977821-132977822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371263722	chr2:132977822-132977823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376154688	chr2:132977826-132977827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369179424	chr2:132977828-132977829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373688424	chr2:132977834-132977835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377122728	chr2:132977846-132977847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368205352	chr2:132977854-132977855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185433964	chr2:132977863-132977864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190536269	chr2:132977865-132977866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs137964646	chr2:132977893-132977894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370848881	chr2:132977929-132977930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375442078	chr2:132977947-132977948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557013844	chr2:132977954-132977955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549033720	chr2:132977967-132977968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567361079	chr2:132977969-132977970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539043309	chr2:132977987-132977988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558478551	chr2:132977988-132977989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193134905	chr2:132978030-132978031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202138509	chr2:132978059-132978060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540822702	chr2:132978082-132978083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369525710	chr2:132978086-132978087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368609078	chr2:132978089-132978090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573810215	chr2:132978093-132978094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537943226	chr2:132978094-132978095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562619331	chr2:132978109-132978110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62165523	chr2:132978120-132978121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs545063958	chr2:132978136-132978137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564416122	chr2:132978147-132978148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62165524	chr2:132978148-132978149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs188463519	chr2:132978153-132978154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367988701	chr2:132978163-132978164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568228764	chr2:132978170-132978171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371956865	chr2:132978182-132978183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375302059	chr2:132978186-132978187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550725631	chr2:132978187-132978188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369677548	chr2:132978197-132978198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539424557	chr2:132978198-132978199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557419230	chr2:132978207-132978208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567173979	chr2:132978219-132978220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200461949	chr2:132978283-132978284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201299688	chr2:132978286-132978287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62165525	chr2:132978316-132978317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555623094	chr2:132978349-132978350	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:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132974400-132977800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:132974400-132977800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:132974600-132977800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
4	chr2:132975600-132977800	ZNF genes & repeats	Fetal Brain Male	brain
5	chr2:132975800-132977800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr2:132975800-132977800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr2:132975800-132977800	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr2:132976000-132977800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr2:132976000-132977800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr2:132976200-132977800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr2:132976200-132977800	ZNF genes & repeats	Primary T cells from cord blood	blood
12	chr2:132976800-132996200	Weak transcription	NHEK	skin
13	chr2:132977200-132980600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:132977400-132980600	Weak transcription	K562	blood
15	chr2:132977600-132977800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:132977600-132977800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:132977600-132977800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
18	chr2:132977600-132977800	ZNF genes & repeats	Colon Smooth Muscle	Colon
19	chr2:132977600-132977800	ZNF genes & repeats	Fetal Heart	heart
20	chr2:132977600-132977800	ZNF genes & repeats	HUVEC	blood vessel
21	chr2:132977600-132977800	ZNF genes & repeats	Osteobl	bone
22	chr2:132977800-132980200	Weak transcription	Adipose Nuclei	Adipose
23	chr2:132977800-132980400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:132977800-132980400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:132977800-132980400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:132977800-132980400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:132977800-132980600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:132977800-132980600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:132977800-132980600	Weak transcription	Primary T cells from cord blood	blood
30	chr2:132977800-132980600	Weak transcription	Fetal Brain Male	brain
31	chr2:132977800-132980600	Weak transcription	Fetal Heart	heart
32	chr2:132977800-132980600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:132977800-132980600	Weak transcription	HUVEC	blood vessel
34	chr2:132977800-132980600	Weak transcription	Osteobl	bone
35	chr2:132980400-132981400	ZNF genes & repeats	Liver	Liver
36	chr2:132980400-132984000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:132980400-132985400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr2:132980400-132985400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr2:132980600-132980800	ZNF genes & repeats	Osteobl	bone
40	chr2:132980600-132981200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:132980600-132981200	ZNF genes & repeats	Fetal Heart	heart
42	chr2:132980600-132981200	ZNF genes & repeats	HUVEC	blood vessel
43	chr2:132980600-132981200	ZNF genes & repeats	K562	blood
44	chr2:132980600-132981600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
45	chr2:132980600-132983400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
46	chr2:132980600-132983800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:132980600-132983800	ZNF genes & repeats	Primary T cells from cord blood	blood
48	chr2:132980600-132984000	ZNF genes & repeats	Fetal Brain Male	brain
49	chr2:132980800-132981600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:132980800-132983800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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