Variant report

Variant	esv3487928
Chromosome Location	chr2:182855707-182858805
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182851614..182854352-chr2:182854697..182857369,2	MCF-7	breast:
2	chr2:182839510..182841754-chr2:182858245..182860406,2	MCF-7	breast:
3	chr2:182757088..182758635-chr2:182858393..182860996,2	MCF-7	breast:
4	chr2:182856985..182859810-chr2:182861410..182863046,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138434	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569087069	chr2:182855710-182855711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537773471	chr2:182855750-182855751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548330810	chr2:182855758-182855759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568195760	chr2:182855781-182855782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552367258	chr2:182855795-182855796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376523872	chr2:182855809-182855810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112360355	chr2:182855841-182855842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs386392003	chr2:182855842-182855843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs386392004	chr2:182855850-182855851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34332425	chr2:182855851-182855852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201832317	chr2:182855852-182855853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553548746	chr2:182855960-182855961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77114703	chr2:182856009-182856010	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs538992351	chr2:182856011-182856012	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs190278327	chr2:182856044-182856045	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs12621807	chr2:182856074-182856075	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs77202152	chr2:182856115-182856116	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs544615077	chr2:182856130-182856131	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs561513262	chr2:182856153-182856154	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs574741494	chr2:182856196-182856197	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs539930838	chr2:182856217-182856218	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs12611951	chr2:182856232-182856233	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs181478227	chr2:182856301-182856302	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs532083059	chr2:182856302-182856303	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs377600864	chr2:182856370-182856371	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs551729178	chr2:182856389-182856390	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs570555694	chr2:182856437-182856438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187040468	chr2:182856448-182856449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116228131	chr2:182856454-182856455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191835341	chr2:182856527-182856528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115598924	chr2:182856541-182856542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141009893	chr2:182856589-182856590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143450714	chr2:182856596-182856597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147133957	chr2:182856619-182856620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114578823	chr2:182856622-182856623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558898305	chr2:182856665-182856666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530673538	chr2:182856684-182856685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575580091	chr2:182856687-182856688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538529818	chr2:182856870-182856871	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs555006394	chr2:182856900-182856901	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs574801463	chr2:182856911-182856912	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs183984382	chr2:182856963-182856964	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs187317357	chr2:182856965-182856966	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs373014819	chr2:182856982-182856983	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs56177617	chr2:182857014-182857015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115400601	chr2:182857027-182857028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377373991	chr2:182857067-182857068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529140105	chr2:182857071-182857072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562481010	chr2:182857118-182857119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531252813	chr2:182857131-182857132	Enhancers Weak transcription	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:28 , 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

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