Variant report

Variant	esv11061
Chromosome Location	chr2:180412903-180422173
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	chr2:180405427..180408122-chr2:180413189..180415887,2	MCF-7	breast:

Extended variants
information (count: 297 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71425635	chr2:180412958-180412959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186101290	chr2:180412991-180412992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558008654	chr2:180412996-180412997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531415790	chr2:180413019-180413020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541959892	chr2:180413060-180413061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139887932	chr2:180413135-180413136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71401746	chr2:180413136-180413137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34315008	chr2:180413156-180413157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138866930	chr2:180413159-180413160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190518294	chr2:180413160-180413161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149025544	chr2:180413195-180413196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182784890	chr2:180413200-180413201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570483675	chr2:180413212-180413213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144609991	chr2:180413213-180413214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369400753	chr2:180413225-180413226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569688309	chr2:180413263-180413264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185535904	chr2:180413317-180413318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191317731	chr2:180413360-180413361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372020680	chr2:180413365-180413366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183182984	chr2:180413391-180413392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535010442	chr2:180413393-180413394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557999172	chr2:180413452-180413453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577630726	chr2:180413491-180413492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376733050	chr2:180413496-180413497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146677605	chr2:180413508-180413509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140288405	chr2:180413560-180413561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13002104	chr2:180413586-180413587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs112140721	chr2:180413587-180413588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187766063	chr2:180413638-180413639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114474843	chr2:180413658-180413659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75641588	chr2:180413662-180413663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375175946	chr2:180413704-180413705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372981509	chr2:180413738-180413739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148030574	chr2:180413739-180413740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192685742	chr2:180413813-180413814	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs559886334	chr2:180413828-180413829	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs141744033	chr2:180413864-180413865	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs549797469	chr2:180413915-180413916	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs34009342	chr2:180413918-180413919	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs569543973	chr2:180413931-180413932	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs377041360	chr2:180413934-180413935	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs567998681	chr2:180413950-180413951	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs150160350	chr2:180413954-180413955	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs548781523	chr2:180414008-180414009	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs138647272	chr2:180414010-180414011	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs142954711	chr2:180414031-180414032	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs534852504	chr2:180414060-180414061	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs183394531	chr2:180414105-180414106	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs571562034	chr2:180414137-180414138	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs56201866	chr2:180414178-180414179	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180408400-180423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:180408800-180414200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:180408800-180415600	Weak transcription	Fetal Brain Female	brain
4	chr2:180410000-180415400	Weak transcription	Liver	Liver
5	chr2:180410200-180415400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:180410600-180414000	Weak transcription	HepG2	liver
7	chr2:180410600-180416200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:180413600-180413800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:180413800-180414000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr2:180413800-180414600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:180413800-180416200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr2:180414000-180414600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr2:180414000-180416200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:180414000-180416400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:180414000-180416800	Enhancers	HepG2	liver
16	chr2:180414200-180416600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:180414200-180417000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:180414400-180415000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:180414600-180415000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr2:180414600-180415400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:180414800-180415400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:180414800-180415600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:180414800-180415600	Enhancers	Fetal Brain Male	brain
24	chr2:180414800-180416000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:180414800-180417000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr2:180415000-180415200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:180415000-180416200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:180415200-180415600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr2:180415400-180415800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:180415400-180415800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:180415400-180415800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:180415400-180416200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:180415400-180416600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr2:180415400-180416600	Enhancers	Liver	Liver
35	chr2:180415600-180415800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr2:180415600-180416000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:180415600-180416200	Enhancers	Fetal Brain Female	brain
38	chr2:180415600-180426600	Weak transcription	Fetal Brain Male	brain
39	chr2:180415800-180416400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:180415800-180416600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
41	chr2:180415800-180432400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:180416000-180416400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr2:180416200-180416400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr2:180416200-180416400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
45	chr2:180416200-180416600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:180416200-180416600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:180416200-180416600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:180416200-180420400	Weak transcription	Fetal Brain Female	brain
49	chr2:180416400-180416600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr2:180416400-180417000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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