Variant report

Variant	esv3459368
Chromosome Location	chr2:234631357-234634095
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	chr2:234633791-234633838	Fibrobl	skin:	n/a	n/a
2	PAX5	chr2:234633548-234633936	GM12878	blood:	n/a	n/a
3	PAX5	chr2:234633586-234633890	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:234631621-234631652	MCF-7	breast:	n/a	n/a
5	POLR2A	chr2:234631612-234631636	K562	blood:	n/a	n/a
6	POLR2A	chr2:234631611-234631697	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
UGT1A8	TF binding region
UGT1A3	TF binding region
RPL17P11	TF binding region

Extended variants
information (count: 87 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370007116	chr2:234631409-234631410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192371212	chr2:234631484-234631485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61550889	chr2:234631491-234631492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537122940	chr2:234631501-234631502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs397977696	chr2:234631505-234631506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183532563	chr2:234631638-234631639	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs573698030	chr2:234631801-234631802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551785642	chr2:234631840-234631841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111421853	chr2:234631845-234631846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11677089	chr2:234631847-234631848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201420005	chr2:234631860-234631861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573450645	chr2:234631864-234631865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545296603	chr2:234631918-234631919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537062236	chr2:234631919-234631920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6760025	chr2:234631921-234631922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs557278496	chr2:234631935-234631936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543534197	chr2:234631947-234631948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563319275	chr2:234631948-234631949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528884709	chr2:234632076-234632077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548922303	chr2:234632102-234632103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6750992	chr2:234632130-234632131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370719058	chr2:234632183-234632184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370680353	chr2:234632188-234632189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200608956	chr2:234632305-234632306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113785176	chr2:234633092-234633093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528357739	chr2:234633101-234633102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551187141	chr2:234633106-234633107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568755731	chr2:234633121-234633122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571092299	chr2:234633135-234633136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563437519	chr2:234633147-234633148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200973045	chr2:234633166-234633167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557040072	chr2:234633177-234633178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202203863	chr2:234633242-234633243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536726765	chr2:234633253-234633254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553228713	chr2:234633263-234633264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536267654	chr2:234633303-234633304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376440949	chr2:234633317-234633318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138869941	chr2:234633345-234633346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573485749	chr2:234633361-234633362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545669110	chr2:234633398-234633399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559235136	chr2:234633445-234633446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62191902	chr2:234633459-234633460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372493213	chr2:234633468-234633469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377063392	chr2:234633469-234633470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370433880	chr2:234633520-234633521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113076425	chr2:234633521-234633522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544768388	chr2:234633600-234633601	Weak transcription ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
48	rs563380533	chr2:234633605-234633606	Weak transcription ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
49	rs567349076	chr2:234633607-234633608	Weak transcription ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
50	rs374841778	chr2:234633613-234633614	Weak transcription ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
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
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234617800-234631600	Weak transcription	Gastric	stomach
2	chr2:234620400-234659200	Weak transcription	Colonic Mucosa	Colon
3	chr2:234620600-234652200	Weak transcription	Esophagus	oesophagus
4	chr2:234626000-234634600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:234626200-234649600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:234626600-234668400	Weak transcription	NHEK	skin
7	chr2:234627600-234637200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:234627800-234636000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:234630800-234634000	Weak transcription	A549	lung
10	chr2:234631000-234631400	Active TSS	Liver	Liver
11	chr2:234631400-234635800	Weak transcription	Liver	Liver
12	chr2:234633600-234634000	ZNF genes & repeats	Right Atrium	heart
13	chr2:234633800-234634000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:234634000-234634600	Enhancers	A549	lung

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