Variant report

Variant	nsv963770
Chromosome Location	chr2:209071573-209073652
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	chr2:209072542-209072742	A549	lung:	n/a	chr2:209072687-209072698 chr2:209072687-209072700
2	CEBPB	chr2:209072604-209072846	HepG2	liver:	n/a	chr2:209072687-209072698 chr2:209072687-209072700
3	MAFK	chr2:209073253-209073434	HepG2	liver:	n/a	n/a
4	MAFK	chr2:209073391-209073408	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:209072048-209072114	Gliobla	brain:	n/a	n/a
6	POLR2A	chr2:209073543-209073633	A549	lung:	n/a	n/a
7	POLR2A	chr2:209073537-209073541	A549	lung:	n/a	n/a
8	POLR2A	chr2:209073562-209073589	MCF-7	breast:	n/a	n/a
9	STAT3	chr2:209072421-209072621	MCF10A-Er-Src	breast:	n/a	n/a
10	UBTF	chr2:209073240-209073392	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:209059939..209061469-chr2:209069888..209071988,2	K562	blood:

Variant related genes	Relation type
ENSG00000233869	TF binding region

Extended variants
information (count: 92 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373102361	chr2:209071631-209071632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78497153	chr2:209071639-209071640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566830689	chr2:209071643-209071644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536172297	chr2:209071675-209071676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575751154	chr2:209071721-209071722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376467847	chr2:209071723-209071724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541510988	chr2:209071725-209071726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561973649	chr2:209071726-209071727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527878664	chr2:209071728-209071729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541751465	chr2:209071730-209071731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564635600	chr2:209071767-209071768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187800705	chr2:209071811-209071812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559072936	chr2:209071815-209071816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546632226	chr2:209071818-209071819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372534012	chr2:209071819-209071820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375599794	chr2:209071826-209071827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571235362	chr2:209071841-209071842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549474155	chr2:209071866-209071867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191451956	chr2:209071889-209071890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532111308	chr2:209071910-209071911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146783549	chr2:209071917-209071918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183572128	chr2:209071928-209071929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571592007	chr2:209071948-209071949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568925237	chr2:209072013-209072014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75511940	chr2:209072021-209072022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76078927	chr2:209072022-209072023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539687771	chr2:209072027-209072028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569501902	chr2:209072037-209072038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13025862	chr2:209072106-209072107	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs373594237	chr2:209072110-209072111	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs557057956	chr2:209072123-209072124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535219872	chr2:209072161-209072162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377049025	chr2:209072162-209072163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572066649	chr2:209072180-209072181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541270385	chr2:209072191-209072192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140514890	chr2:209072196-209072197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76893351	chr2:209072205-209072206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77925718	chr2:209072206-209072207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188506083	chr2:209072216-209072217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs62193574	chr2:209072280-209072281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374175615	chr2:209072312-209072313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192888398	chr2:209072349-209072350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138191829	chr2:209072358-209072359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538014443	chr2:209072365-209072366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528266790	chr2:209072390-209072391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149194495	chr2:209072395-209072396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6706160	chr2:209072399-209072400	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs547292552	chr2:209072402-209072403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570612330	chr2:209072434-209072435	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs146669858	chr2:209072454-209072455	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
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
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
Hodgkin''s lymphoma	17606441	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	22237106	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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209062600-209080000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:209067600-209071800	Enhancers	Fetal Thymus	thymus
3	chr2:209069200-209072800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:209071800-209075000	Weak transcription	Fetal Thymus	thymus
5	chr2:209072000-209073000	Enhancers	Adipose Nuclei	Adipose
6	chr2:209072800-209073200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:209072800-209073200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr2:209073000-209077800	Weak transcription	Adipose Nuclei	Adipose
9	chr2:209073200-209078400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links