Variant report

Variant	esv3341564
Chromosome Location	chr2:190679547-190679831
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190679454..190682082-chr2:190684382..190686925,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574485663	chr2:190679556-190679557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529877272	chr2:190679561-190679562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542844868	chr2:190679619-190679620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561556404	chr2:190679637-190679638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367605145	chr2:190679675-190679676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531895063	chr2:190679681-190679682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544094798	chr2:190679686-190679687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1233272	chr2:190679694-190679695	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs532498896	chr2:190679709-190679710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191550046	chr2:190679718-190679719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183730830	chr2:190679742-190679743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530263426	chr2:190679757-190679758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548061599	chr2:190679761-190679762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2544054	chr2:190679780-190679781	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs2544055	chr2:190679781-190679782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189624637	chr2:190679786-190679787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570417545	chr2:190679802-190679803	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs529543530	chr2:190679823-190679824	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs76377669	chr2:190679825-190679826	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
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
Acute myeloid leukemia	20729466	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
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190649800-190713400	Weak transcription	Gastric	stomach
2	chr2:190650000-190688200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:190650400-190686800	Weak transcription	Thymus	Thymus
4	chr2:190650400-190688400	Weak transcription	Colonic Mucosa	Colon
5	chr2:190650400-190689800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:190650400-190711400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:190650600-190683200	Weak transcription	Fetal Brain Male	brain
8	chr2:190650600-190688800	Weak transcription	Fetal Heart	heart
9	chr2:190650600-190693200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:190650600-190700400	Weak transcription	Hela-S3	cervix
11	chr2:190656800-190685000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:190656800-190721000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:190658200-190743800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:190659000-190685000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:190659200-190681200	Weak transcription	Spleen	Spleen
16	chr2:190659800-190686800	Weak transcription	Fetal Stomach	stomach
17	chr2:190659800-190743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:190661400-190717800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:190662600-190683000	Weak transcription	Adipose Nuclei	Adipose
20	chr2:190662600-190686800	Weak transcription	Left Ventricle	heart
21	chr2:190662800-190719000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:190663000-190682600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:190663000-190682800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:190663000-190683000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:190663000-190685600	Weak transcription	Brain Anterior Caudate	brain
26	chr2:190663000-190701600	Weak transcription	Psoas Muscle	Psoas
27	chr2:190663000-190712800	Weak transcription	Aorta	Aorta
28	chr2:190663200-190683000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:190663200-190700600	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:190663200-190712400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:190663400-190683400	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:190664600-190680000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:190664600-190683600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:190664800-190686800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:190664800-190741800	Weak transcription	Brain Angular Gyrus	brain
36	chr2:190665000-190683000	Weak transcription	HUVEC	blood vessel
37	chr2:190665000-190684400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:190665000-190696600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr2:190666600-190683600	Strong transcription	HSMM	muscle
40	chr2:190667400-190683200	Weak transcription	NHLF	lung
41	chr2:190667600-190683600	Weak transcription	HMEC	breast
42	chr2:190667800-190686800	Weak transcription	Pancreas	Pancrea
43	chr2:190668400-190684400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:190669400-190683800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:190669400-190686800	Weak transcription	Lung	lung
46	chr2:190669400-190743800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:190669600-190709600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:190669600-190713200	Weak transcription	Ovary	ovary
49	chr2:190669800-190679800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr2:190669800-190709000	Weak transcription	Placenta	Placenta

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