Variant report

Variant	esv20047
Chromosome Location	chr2:212801927-212809271
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:212795579..212797180-chr2:212805062..212806613,2	MCF-7	breast:
2	chr2:212803789..212804415-chr2:212822661..212823368,2	MCF-7	breast:
3	chr2:212804061..212807226-chr2:213401248..213403869,3	MCF-7	breast:
4	chr2:212804339..212807209-chr2:212807854..212810158,3	MCF-7	breast:
5	chr2:212808593..212810122-chr2:212818044..212819850,2	MCF-7	breast:
6	chr2:212804339..212807209-chr2:212807854..212810158,3	MCF-7	breast:
7	chr2:212802067..212803693-chr2:212817680..212819579,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178568	chromatin interactions

Extended variants
information (count: 316 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553762944	chr2:212801927-212801928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528742823	chr2:212802044-212802045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181025227	chr2:212802052-212802053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530933866	chr2:212802058-212802059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148967849	chr2:212802066-212802067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567569367	chr2:212802078-212802079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572253224	chr2:212802114-212802115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544853379	chr2:212802161-212802162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536046274	chr2:212802163-212802164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553161390	chr2:212802229-212802230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566226923	chr2:212802230-212802231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538388069	chr2:212802245-212802246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs57682664	chr2:212802258-212802259	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs114606272	chr2:212802322-212802323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544209936	chr2:212802326-212802327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557354457	chr2:212802345-212802346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs839528	chr2:212802355-212802356	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs146535323	chr2:212802401-212802402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186416762	chr2:212802424-212802425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs839529	chr2:212802426-212802427	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545470350	chr2:212802438-212802439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373118892	chr2:212802442-212802443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371909868	chr2:212802457-212802458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565401984	chr2:212802477-212802478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376389671	chr2:212802479-212802480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145147608	chr2:212802513-212802514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575735171	chr2:212802528-212802529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529713167	chr2:212802553-212802554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114033048	chr2:212802562-212802563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148383905	chr2:212802594-212802595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189658612	chr2:212802632-212802633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566290758	chr2:212802642-212802643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538451313	chr2:212802644-212802645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140542488	chr2:212802648-212802649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561380028	chr2:212802674-212802675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150466691	chr2:212802678-212802679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537420741	chr2:212802697-212802698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554595583	chr2:212802731-212802732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs839530	chr2:212802765-212802766	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs13401829	chr2:212802794-212802795	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs560613375	chr2:212802815-212802816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553705059	chr2:212802939-212802940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573448384	chr2:212802948-212802949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545635869	chr2:212802954-212802955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181649686	chr2:212802991-212802992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575723802	chr2:212802999-212803000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544277361	chr2:212803008-212803009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561375291	chr2:212803019-212803020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374353087	chr2:212803106-212803107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546443578	chr2:212803108-212803109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212796400-212804800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:212801000-212802200	Weak transcription	Dnd41	blood
3	chr2:212802200-212802800	Enhancers	Dnd41	blood
4	chr2:212804800-212805000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:212804800-212807000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:212805000-212806200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:212805400-212805800	Enhancers	Brain Anterior Caudate	brain
8	chr2:212805600-212806800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:212806000-212806400	Enhancers	Brain Anterior Caudate	brain
10	chr2:212806200-212806800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:212806200-212807000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:212806600-212807000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr2:212806800-212816400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:212807000-212808000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:212807000-212808000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:212808000-212808400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:212808000-212808600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr2:212808200-212808600	Enhancers	Fetal Heart	heart

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