Variant report

Variant	nsv524228
Chromosome Location	chr2:189194029-189199195
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189192790..189195620-chr2:189206349..189207946,2	MCF-7	breast:
2	chr2:189198100..189200687-chr2:189228875..189230622,2	MCF-7	breast:
3	chr2:189159403..189162059-chr2:189193708..189195307,2	K562	blood:
4	chr2:189186048..189188901-chr2:189195647..189197599,2	K562	blood:
5	chr2:189181542..189183620-chr2:189198410..189201258,2	K562	blood:

Extended variants
information (count: 146 )
Associated
traits (count: 51 )

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	rs7574262	chr2:189194029-189194030	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550497919	chr2:189194053-189194054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568798889	chr2:189194059-189194060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537094949	chr2:189194154-189194155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552495780	chr2:189194169-189194170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181490020	chr2:189194273-189194274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187063716	chr2:189194279-189194280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34189381	chr2:189194305-189194306	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs149565071	chr2:189194320-189194321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138922256	chr2:189194369-189194370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557732686	chr2:189194388-189194389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575847628	chr2:189194514-189194515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141683403	chr2:189194546-189194547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577548003	chr2:189194620-189194621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368054615	chr2:189194630-189194631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564077480	chr2:189194640-189194641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572876316	chr2:189194645-189194646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539970030	chr2:189194675-189194676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575825592	chr2:189194689-189194690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561435960	chr2:189194696-189194697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529090545	chr2:189194716-189194717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188420461	chr2:189194717-189194718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562641970	chr2:189194721-189194722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557287950	chr2:189194738-189194739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181312589	chr2:189194782-189194783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13403672	chr2:189194786-189194787	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184998556	chr2:189194846-189194847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78242495	chr2:189194864-189194865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528472890	chr2:189195002-189195003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547150509	chr2:189195041-189195042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568565105	chr2:189195063-189195064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575620629	chr2:189195085-189195086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542812534	chr2:189195099-189195100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536059852	chr2:189195127-189195128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189902379	chr2:189195182-189195183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4433962	chr2:189195208-189195209	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs540099058	chr2:189195305-189195306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11683340	chr2:189195338-189195339	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs572832948	chr2:189195355-189195356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539835769	chr2:189195392-189195393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555086125	chr2:189195414-189195415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76181117	chr2:189195418-189195419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544008177	chr2:189195449-189195450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368085487	chr2:189195456-189195457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370360683	chr2:189195491-189195492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533097059	chr2:189195502-189195503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545314016	chr2:189195516-189195517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184017735	chr2:189195523-189195524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11678294	chr2:189195569-189195570	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs532400509	chr2:189195572-189195573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189183000-189196000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr2:189183400-189197200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:189183400-189198400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:189183600-189205000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:189183600-189205400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:189183800-189198600	Weak transcription	Ovary	ovary
7	chr2:189187800-189204600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:189188800-189210600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:189189200-189198400	Weak transcription	HUVEC	blood vessel
10	chr2:189189600-189196000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:189190400-189194200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:189191400-189194800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:189191600-189197200	Weak transcription	Left Ventricle	heart
14	chr2:189191800-189195400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:189191800-189197200	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:189191800-189197200	Weak transcription	Psoas Muscle	Psoas
17	chr2:189191800-189197200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:189192000-189194400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:189192000-189195400	Weak transcription	Fetal Brain Female	brain
20	chr2:189192000-189205000	Weak transcription	Fetal Stomach	stomach
21	chr2:189192200-189197200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:189192200-189197200	Weak transcription	Aorta	Aorta
23	chr2:189192200-189197800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:189192200-189198400	Weak transcription	NHLF	lung
25	chr2:189192200-189225200	Weak transcription	Placenta	Placenta
26	chr2:189192400-189197000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:189192400-189197800	Weak transcription	Brain Anterior Caudate	brain
28	chr2:189192600-189195200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:189192600-189197200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:189192600-189197800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:189192800-189194200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:189192800-189198400	Weak transcription	Fetal Lung	lung
33	chr2:189192800-189198600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:189193000-189195000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:189193000-189197400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:189193000-189198400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:189193000-189198400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr2:189193000-189198400	Weak transcription	NHDF-Ad	bronchial
39	chr2:189193000-189198600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:189193200-189196000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr2:189193200-189198400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:189193400-189194400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr2:189193600-189194200	Enhancers	Colon Smooth Muscle	Colon
44	chr2:189193800-189194200	Enhancers	K562	blood
45	chr2:189193800-189194600	Enhancers	Fetal Heart	heart
46	chr2:189194000-189195400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:189194000-189196000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:189194200-189195200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:189194200-189197200	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:189194200-189198400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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