Variant report

Variant	esv3460935
Chromosome Location	chr2:181874044-181874924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:181845483..181847915-chr2:181873515..181875899,3	K562	blood:
2	chr2:181845483..181847915-chr2:181873515..181875899,2	K562	blood:
3	chr2:181874638..181877182-chr2:181878680..181881329,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170035	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573122217	chr2:181874049-181874050	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs1518457	chr2:181874082-181874083	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs78369167	chr2:181874156-181874157	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs1850640	chr2:181874185-181874186	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs569484858	chr2:181874208-181874209	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs6147053	chr2:181874241-181874242	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs199984037	chr2:181874275-181874276	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183438506	chr2:181874289-181874290	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563545742	chr2:181874326-181874327	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529345842	chr2:181874337-181874338	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs149739627	chr2:181874341-181874342	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs5836763	chr2:181874342-181874343	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs549066721	chr2:181874351-181874352	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs559514767	chr2:181874433-181874434	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs528701028	chr2:181874464-181874465	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs78806603	chr2:181874560-181874561	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs148096222	chr2:181874650-181874651	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs572044432	chr2:181874659-181874660	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs571935629	chr2:181874707-181874708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs141851450	chr2:181874717-181874718	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550511475	chr2:181874722-181874723	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567154408	chr2:181874797-181874798	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs536343633	chr2:181874811-181874812	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs375335599	chr2:181874840-181874841	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554252894	chr2:181874860-181874861	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs187723222	chr2:181874870-181874871	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	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
Mental retardation	21062444	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
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181849400-181880000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:181851200-181876200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:181856800-181897200	Weak transcription	Primary B cells from cord blood	blood
4	chr2:181857400-181875000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:181857600-181879200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:181857800-181901200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:181858200-181878000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:181858400-181874400	Weak transcription	Osteobl	bone
9	chr2:181860000-181894800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:181861400-181875000	Weak transcription	Primary T cells from cord blood	blood
11	chr2:181864600-181875000	Weak transcription	Brain Anterior Caudate	brain
12	chr2:181864600-181879000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:181865600-181878000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:181866600-181875200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:181867000-181875000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:181867800-181881400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:181869400-181879800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:181870200-181875200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:181870800-181875800	Weak transcription	Fetal Brain Female	brain
20	chr2:181871000-181875200	Weak transcription	Brain Substantia Nigra	brain
21	chr2:181871000-181875600	Weak transcription	Brain Angular Gyrus	brain
22	chr2:181871000-181878600	Weak transcription	Aorta	Aorta
23	chr2:181871000-181886600	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:181871200-181880400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:181872400-181875200	Weak transcription	Brain Germinal Matrix	brain
26	chr2:181873000-181876600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:181873200-181885000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:181873400-181875200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:181873400-181875400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:181873400-181875400	Weak transcription	Fetal Lung	lung
31	chr2:181873400-181875400	Weak transcription	Stomach Mucosa	stomach
32	chr2:181873400-181875400	Weak transcription	K562	blood
33	chr2:181873400-181875600	Weak transcription	Fetal Stomach	stomach
34	chr2:181873400-181876000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:181873400-181876000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:181873400-181876000	Weak transcription	Right Ventricle	heart
37	chr2:181873400-181877600	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr2:181873400-181878000	Weak transcription	Left Ventricle	heart
39	chr2:181873400-181901000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:181873600-181874800	Weak transcription	Fetal Intestine Large	intestine
41	chr2:181873600-181874800	Weak transcription	Fetal Intestine Small	intestine
42	chr2:181873600-181875000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:181873600-181875000	Weak transcription	Fetal Heart	heart
44	chr2:181873600-181875000	Weak transcription	Small Intestine	intestine
45	chr2:181873600-181875200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:181873600-181875400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:181873600-181875800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr2:181873600-181877200	Weak transcription	Psoas Muscle	Psoas
49	chr2:181873600-181877800	Weak transcription	Ovary	ovary
50	chr2:181873600-181878000	Weak transcription	Gastric	stomach

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