Variant report

Variant	nsv961574
Chromosome Location	chr2:234655848-234657154
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	CEBPB	chr2:234657008-234657264	IMR90	lung:	n/a	chr2:234657082-234657093 chr2:234657082-234657093 chr2:234657104-234657115
2	CEBPB	chr2:234656934-234657289	HepG2	liver:	n/a	chr2:234657082-234657093 chr2:234657082-234657093 chr2:234657104-234657115
3	CEBPB	chr2:234656935-234657273	A549	lung:	n/a	chr2:234657082-234657093 chr2:234657082-234657093 chr2:234657104-234657115
4	JUN	chr2:234656977-234657137	HepG2	liver:	n/a	chr2:234657101-234657114
5	JUND	chr2:234657003-234657236	HepG2	liver:	n/a	n/a
6	NR3C1	chr2:234656226-234656681	A549	lung:	n/a	n/a
7	NR3C1	chr2:234656233-234656734	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:63274126..63274957-chr2:234657055..234657979,2	MCF-7	breast:
2	2:234543708-234558325..2:234649753-234657866	Hela-S3	cervix:

Variant related genes	Relation type
UGT1A2P	TF binding region
ENSG00000248705	TF binding region
DNAJB3	TF binding region
ENSG00000234143	chromatin interactions
ENSG00000242515	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192599700	chr2:234655861-234655862	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs138794928	chr2:234655873-234655874	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs567491863	chr2:234655914-234655915	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs536544989	chr2:234655985-234655986	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs546536456	chr2:234655995-234655996	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs115834808	chr2:234656003-234656004	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs565595947	chr2:234656019-234656020	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs531193212	chr2:234656031-234656032	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs28900380	chr2:234656032-234656033	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs537889953	chr2:234656042-234656043	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs554943916	chr2:234656045-234656046	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs112085732	chr2:234656051-234656052	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs111706856	chr2:234656052-234656053	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs561242685	chr2:234656069-234656070	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs113576188	chr2:234656070-234656071	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs562060948	chr2:234656075-234656076	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs184446696	chr2:234656077-234656078	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs577048097	chr2:234656094-234656095	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs545965821	chr2:234656101-234656102	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs564672570	chr2:234656109-234656110	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs36069080	chr2:234656130-234656131	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs547060406	chr2:234656133-234656134	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs530513131	chr2:234656176-234656177	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs28900381	chr2:234656215-234656216	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs188498977	chr2:234656241-234656242	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs529621956	chr2:234656257-234656258	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs546895525	chr2:234656272-234656273	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs4595965	chr2:234656286-234656287	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs566750548	chr2:234656297-234656298	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs538867928	chr2:234656300-234656301	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs552388790	chr2:234656335-234656336	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs569419089	chr2:234656341-234656342	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs538337941	chr2:234656346-234656347	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs566811001	chr2:234656358-234656359	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs111571646	chr2:234656367-234656368	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs574078556	chr2:234656368-234656369	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs181313522	chr2:234656409-234656410	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs538829256	chr2:234656425-234656426	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs112446097	chr2:234656432-234656433	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs367969485	chr2:234656480-234656481	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs552058762	chr2:234656495-234656496	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs28900382	chr2:234656500-234656501	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs12466997	chr2:234656517-234656518	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs186049008	chr2:234656525-234656526	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs562741642	chr2:234656537-234656538	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs576515200	chr2:234656540-234656541	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs544310415	chr2:234656580-234656581	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs113780348	chr2:234656603-234656604	Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs529720964	chr2:234656607-234656608	Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs539831908	chr2:234656629-234656630	Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234620400-234659200	Weak transcription	Colonic Mucosa	Colon
2	chr2:234626600-234668400	Weak transcription	NHEK	skin
3	chr2:234646400-234666600	Weak transcription	Stomach Mucosa	stomach
4	chr2:234649800-234658800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:234652800-234658200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:234652800-234659200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:234654400-234656000	Flanking Active TSS	Liver	Liver
8	chr2:234655400-234656200	Enhancers	Pancreas	Pancrea
9	chr2:234655600-234656200	Enhancers	A549	lung
10	chr2:234656000-234656600	Enhancers	Liver	Liver
11	chr2:234656200-234659000	Weak transcription	A549	lung
12	chr2:234656600-234657000	Flanking Active TSS	Liver	Liver
13	chr2:234657000-234657200	Enhancers	Liver	Liver

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