Variant report

Variant	esv3397584
Chromosome Location	chr2:211172257-211174355
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	POLR2A	chr2:211172829-211172880	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:211174268-211174465	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:211173735..211175248-chr2:211176739..211178731,2	MCF-7	breast:

Variant related genes	Relation type
MYL1	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547571252	chr2:211172258-211172259	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142363238	chr2:211172335-211172336	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181919467	chr2:211172393-211172394	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187042849	chr2:211172405-211172406	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541494909	chr2:211172429-211172430	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566769144	chr2:211172453-211172454	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191437621	chr2:211172507-211172508	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11890217	chr2:211172520-211172521	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs75664346	chr2:211172534-211172535	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73984384	chr2:211172540-211172541	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185592524	chr2:211172548-211172549	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116309308	chr2:211172610-211172611	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146897578	chr2:211172620-211172621	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190100732	chr2:211172631-211172632	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551571994	chr2:211172660-211172661	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567567833	chr2:211172667-211172668	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572411327	chr2:211172687-211172688	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536748919	chr2:211172715-211172716	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373420168	chr2:211172735-211172736	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115741651	chr2:211172741-211172742	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182342508	chr2:211172909-211172910	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs536546854	chr2:211172991-211172992	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs7556821	chr2:211173033-211173034	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs140545394	chr2:211173050-211173051	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs544842988	chr2:211173068-211173069	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs373034167	chr2:211173069-211173070	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs78340526	chr2:211173101-211173102	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs201249361	chr2:211173124-211173125	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs71043988	chr2:211173165-211173166	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs7557043	chr2:211173237-211173238	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs113977418	chr2:211173247-211173248	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543973505	chr2:211173266-211173267	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186516045	chr2:211173276-211173277	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529298649	chr2:211173309-211173310	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150458036	chr2:211173316-211173317	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs137969055	chr2:211173322-211173323	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149488486	chr2:211173333-211173334	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192309216	chr2:211173395-211173396	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551510530	chr2:211173401-211173402	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs199992942	chr2:211173529-211173530	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs372468938	chr2:211173530-211173531	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs367958371	chr2:211173586-211173587	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs371789362	chr2:211173589-211173590	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs375851749	chr2:211173590-211173591	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs200319650	chr2:211173592-211173593	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs201512711	chr2:211173593-211173594	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs202231110	chr2:211173594-211173595	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs35195525	chr2:211173595-211173596	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs10626324	chr2:211173596-211173597	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs78694091	chr2:211173597-211173598	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Breast cancer	17603634	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
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
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	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
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211166400-211174000	Weak transcription	Psoas Muscle	Psoas
2	chr2:211168600-211173800	Weak transcription	HSMMtube	muscle
3	chr2:211168800-211175400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:211171800-211180800	Active TSS	Fetal Muscle Leg	muscle
5	chr2:211172000-211172400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:211172000-211172800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr2:211172400-211172600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:211172600-211172800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr2:211172800-211173200	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr2:211172800-211173600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:211173200-211173400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr2:211173400-211174800	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr2:211173600-211181000	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr2:211173800-211174600	Enhancers	HSMMtube	muscle
15	chr2:211173800-211175000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr2:211173800-211175400	Enhancers	Fetal Heart	heart
17	chr2:211174000-211174600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:211174000-211174600	Active TSS	Psoas Muscle	Psoas
19	chr2:211174000-211174800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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