Variant report

Variant	esv3459876
Chromosome Location	chr2:173554025-173556540
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	SP1	chr2:173553774-173554039	GM12878	blood:	n/a	n/a
2	SP1	chr2:173553779-173554071	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000239041	TF binding region

Extended variants
information (count: 116 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527722189	chr2:173554057-173554058	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs371054955	chr2:173554083-173554084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552106084	chr2:173554107-173554108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112786912	chr2:173554164-173554165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541063575	chr2:173554165-173554166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537913990	chr2:173554200-173554201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556366515	chr2:173554205-173554206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184003020	chr2:173554241-173554242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536051475	chr2:173554290-173554291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554887637	chr2:173554294-173554295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148544927	chr2:173554302-173554303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540238048	chr2:173554340-173554341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187244789	chr2:173554357-173554358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577032192	chr2:173554358-173554359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560199816	chr2:173554387-173554388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527236976	chr2:173554431-173554432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562422345	chr2:173554435-173554436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs57104776	chr2:173554490-173554491	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192271766	chr2:173554507-173554508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185544196	chr2:173554528-173554529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527950682	chr2:173554607-173554608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs367912202	chr2:173554618-173554619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552167658	chr2:173554642-173554643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190751229	chr2:173554652-173554653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112802748	chr2:173554659-173554660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373597103	chr2:173554665-173554666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568449268	chr2:173554673-173554674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563459764	chr2:173554727-173554728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536455203	chr2:173554744-173554745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184311890	chr2:173554759-173554760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566797374	chr2:173554775-173554776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534049121	chr2:173554791-173554792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558877793	chr2:173554809-173554810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576942949	chr2:173554816-173554817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537440493	chr2:173554828-173554829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556265917	chr2:173554841-173554842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531505255	chr2:173554882-173554883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574410723	chr2:173554889-173554890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71403336	chr2:173554892-173554893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542429216	chr2:173554896-173554897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142876499	chr2:173554899-173554900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572290142	chr2:173554942-173554943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368039871	chr2:173554944-173554945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370365070	chr2:173554951-173554952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372492733	chr2:173555009-173555010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7580630	chr2:173555024-173555025	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs374005847	chr2:173555062-173555063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532212256	chr2:173555071-173555072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552016738	chr2:173555122-173555123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531633002	chr2:173555172-173555173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	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
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173539600-173554200	Weak transcription	Primary T cells from cord blood	blood
2	chr2:173549800-173557400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:173550400-173557200	Weak transcription	Fetal Heart	heart
4	chr2:173552000-173557400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:173553400-173556800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:173554200-173555200	Enhancers	Primary T cells from cord blood	blood
7	chr2:173554800-173555000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr2:173555200-173557200	Weak transcription	Primary T cells from cord blood	blood
9	chr2:173555400-173557200	Weak transcription	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links