Variant report

Variant	esv3366837
Chromosome Location	chr2:205967157-205969155
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:205967584-205967615	ProgFib	skin:	n/a	n/a
2	CTCF	chr2:205967692-205967760	Medullo	brain:	n/a	n/a
3	EP300	chr2:205968473-205968768	SK-N-SH_RA	brain:	n/a	n/a
4	EP300	chr2:205968187-205969061	SK-N-SH	brain:	n/a	chr2:205968833-205968847
5	EP300	chr2:205968485-205968769	SK-N-SH_RA	brain:	n/a	n/a
6	TCF12	chr2:205968409-205968980	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr2:205968393-205968910	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:205966282..205968302-chr2:205970008..205973001,2	K562	blood:

Variant related genes	Relation type
PARD3B	TF binding region

Extended variants
information (count: 94 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138653377	chr2:205967174-205967175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201121440	chr2:205967178-205967179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542119731	chr2:205967189-205967190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560469911	chr2:205967203-205967204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527444676	chr2:205967256-205967257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13429972	chr2:205967315-205967316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs564196985	chr2:205967324-205967325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566508039	chr2:205967331-205967332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549726250	chr2:205967334-205967335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567933091	chr2:205967417-205967418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535096432	chr2:205967432-205967433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370291837	chr2:205967438-205967439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13430090	chr2:205967440-205967441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs182575961	chr2:205967443-205967444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534123052	chr2:205967459-205967460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558927028	chr2:205967510-205967511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570909407	chr2:205967516-205967517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537983816	chr2:205967517-205967518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149554708	chr2:205967547-205967548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574853032	chr2:205967548-205967549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10196569	chr2:205967559-205967560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554064445	chr2:205967604-205967605	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs572408618	chr2:205967610-205967611	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs371619342	chr2:205967616-205967617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564152993	chr2:205967658-205967659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531553134	chr2:205967684-205967685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543114976	chr2:205967715-205967716	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs187574815	chr2:205967723-205967724	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs531624389	chr2:205967724-205967725	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs528811591	chr2:205967727-205967728	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs71427767	chr2:205967770-205967771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs199568925	chr2:205967806-205967807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377422159	chr2:205967807-205967808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10211581	chr2:205967813-205967814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28666710	chr2:205967814-205967815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28521945	chr2:205967815-205967816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13036099	chr2:205967820-205967821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13432993	chr2:205967821-205967822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28653604	chr2:205967822-205967823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13036104	chr2:205967826-205967827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566815406	chr2:205967828-205967829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71032439	chr2:205967853-205967854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71408999	chr2:205967880-205967881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201568771	chr2:205967886-205967887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368648915	chr2:205967888-205967889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371850936	chr2:205967891-205967892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150083874	chr2:205967901-205967902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111692029	chr2:205967906-205967907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138398005	chr2:205967950-205967951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370868931	chr2:205967955-205967956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
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
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Glioblastoma multiforme	22286061	CNVD
Cancer	20164920	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205953400-205978600	Weak transcription	Fetal Lung	lung
2	chr2:205953400-206007200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:205959600-205971600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:205963800-205990200	Weak transcription	Ovary	ovary
5	chr2:205968200-205986200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:205968800-205972200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:205968800-205978200	Weak transcription	HSMM	muscle
8	chr2:205968800-205990200	Weak transcription	Adipose Nuclei	Adipose

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