Variant report

Variant	esv3401430
Chromosome Location	chr2:182855107-182859505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182859124..182860811-chr2:182868935..182871871,2	MCF-7	breast:
2	chr2:182856985..182859810-chr2:182861410..182863046,2	MCF-7	breast:
3	chr2:182852741..182855289-chr2:182863104..182865344,4	MCF-7	breast:
4	chr2:182839510..182841754-chr2:182858245..182860406,2	MCF-7	breast:
5	chr2:182757088..182758635-chr2:182858393..182860996,2	MCF-7	breast:
6	chr2:182851614..182854352-chr2:182854697..182857369,2	MCF-7	breast:
7	chr2:182843541..182845262-chr2:182852345..182855215,2	K562	blood:

Variant related genes	Relation type
ENSG00000138434	chromatin interactions

Extended variants
information (count: 146 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1153746	chr2:182855109-182855110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10186943	chr2:182855145-182855146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs566167610	chr2:182855165-182855166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185694763	chr2:182855192-182855193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79466325	chr2:182855262-182855263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568948609	chr2:182855300-182855301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577414315	chr2:182855304-182855305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538005315	chr2:182855322-182855323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554471827	chr2:182855323-182855324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs16867518	chr2:182855329-182855330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs543157347	chr2:182855335-182855336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553387241	chr2:182855415-182855416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573302212	chr2:182855429-182855430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545709756	chr2:182855441-182855442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565610408	chr2:182855453-182855454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531118115	chr2:182855476-182855477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188205625	chr2:182855477-182855478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561341380	chr2:182855481-182855482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181060886	chr2:182855490-182855491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77376382	chr2:182855501-182855502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369753365	chr2:182855515-182855516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566130801	chr2:182855554-182855555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11685642	chr2:182855636-182855637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs185662488	chr2:182855698-182855699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569087069	chr2:182855710-182855711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537773471	chr2:182855750-182855751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548330810	chr2:182855758-182855759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568195760	chr2:182855781-182855782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552367258	chr2:182855795-182855796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376523872	chr2:182855809-182855810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112360355	chr2:182855841-182855842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs386392003	chr2:182855842-182855843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs386392004	chr2:182855850-182855851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34332425	chr2:182855851-182855852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201832317	chr2:182855852-182855853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553548746	chr2:182855960-182855961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77114703	chr2:182856009-182856010	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs538992351	chr2:182856011-182856012	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs190278327	chr2:182856044-182856045	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs12621807	chr2:182856074-182856075	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs77202152	chr2:182856115-182856116	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs544615077	chr2:182856130-182856131	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs561513262	chr2:182856153-182856154	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs574741494	chr2:182856196-182856197	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs539930838	chr2:182856217-182856218	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs12611951	chr2:182856232-182856233	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs181478227	chr2:182856301-182856302	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs532083059	chr2:182856302-182856303	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs377600864	chr2:182856370-182856371	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs551729178	chr2:182856389-182856390	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182843400-182904000	Weak transcription	Thymus	Thymus
2	chr2:182845400-182879000	Weak transcription	Fetal Thymus	thymus
3	chr2:182853400-182859400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:182854200-182856000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:182854200-182857800	Weak transcription	Psoas Muscle	Psoas
6	chr2:182854400-182855800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:182854800-182856000	Weak transcription	Fetal Heart	heart
8	chr2:182855800-182856000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:182855800-182856000	Enhancers	GM12878-XiMat	blood
10	chr2:182856000-182856400	Flanking Active TSS	GM12878-XiMat	blood
11	chr2:182856000-182856600	Enhancers	Stomach Mucosa	stomach
12	chr2:182856000-182856800	Enhancers	Fetal Intestine Large	intestine
13	chr2:182856000-182857000	Enhancers	Primary B cells from cord blood	blood
14	chr2:182856000-182857000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr2:182856000-182857000	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr2:182856000-182857000	Enhancers	Fetal Intestine Small	intestine
17	chr2:182856000-182857200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:182856000-182857200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr2:182856000-182858000	Enhancers	Fetal Heart	heart
20	chr2:182856200-182857000	Enhancers	Primary B cells from peripheral blood	blood
21	chr2:182856400-182856800	Enhancers	GM12878-XiMat	blood
22	chr2:182856800-182857000	Flanking Active TSS	GM12878-XiMat	blood
23	chr2:182857000-182857200	Enhancers	GM12878-XiMat	blood
24	chr2:182857200-182857400	Flanking Active TSS	GM12878-XiMat	blood
25	chr2:182857400-182857800	Enhancers	GM12878-XiMat	blood
26	chr2:182857800-182858200	Flanking Active TSS	GM12878-XiMat	blood
27	chr2:182858000-182866200	Weak transcription	Fetal Heart	heart
28	chr2:182858200-182858600	Enhancers	GM12878-XiMat	blood
29	chr2:182859200-182860200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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