Variant report

Variant	esv3509222
Chromosome Location	chr2:114014023-114016282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146703166	chr2:114014034-114014035	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544464573	chr2:114014062-114014063	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201678209	chr2:114014147-114014148	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10529072	chr2:114014150-114014151	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs67432288	chr2:114014151-114014152	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564373965	chr2:114014161-114014162	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200835838	chr2:114014184-114014185	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10566236	chr2:114014192-114014193	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73955188	chr2:114014193-114014194	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs60056442	chr2:114014195-114014196	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201033747	chr2:114014197-114014198	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375523336	chr2:114014204-114014205	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs60889010	chr2:114014205-114014206	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6722731	chr2:114014207-114014208	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72155714	chr2:114014208-114014209	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs58231626	chr2:114014209-114014210	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10566237	chr2:114014228-114014229	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61645161	chr2:114014229-114014230	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542501914	chr2:114014230-114014231	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35077047	chr2:114014231-114014232	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35073675	chr2:114014232-114014233	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373552435	chr2:114014233-114014234	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112404518	chr2:114014235-114014236	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201680801	chr2:114014245-114014246	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538019497	chr2:114014293-114014294	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556190701	chr2:114014347-114014348	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6725671	chr2:114014352-114014353	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs568606960	chr2:114014378-114014379	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116602058	chr2:114014392-114014393	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182795224	chr2:114014402-114014403	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187059463	chr2:114014419-114014420	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374301977	chr2:114014440-114014441	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192066464	chr2:114014470-114014471	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572781925	chr2:114014471-114014472	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535496876	chr2:114014508-114014509	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555190708	chr2:114014597-114014598	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76963581	chr2:114014642-114014643	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6726151	chr2:114014701-114014702	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs558023421	chr2:114014753-114014754	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577996515	chr2:114014761-114014762	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540562125	chr2:114014808-114014809	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs559768669	chr2:114014842-114014843	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs77187339	chr2:114014845-114014846	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs542282023	chr2:114014851-114014852	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs377087242	chr2:114014916-114014917	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs144905049	chr2:114014936-114014937	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs149020840	chr2:114014948-114014949	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs534562350	chr2:114015005-114015006	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs550755301	chr2:114015035-114015036	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs199960992	chr2:114015080-114015081	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113998200-114020600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:113999000-114014800	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:113999600-114016400	Weak transcription	Fetal Stomach	stomach
4	chr2:113999600-114028400	Weak transcription	Ovary	ovary
5	chr2:114002400-114015400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:114006600-114016200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr2:114006600-114016200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr2:114006800-114015800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr2:114007200-114014800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:114007200-114016800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:114008400-114016000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr2:114009000-114015000	Weak transcription	K562	blood
13	chr2:114009000-114015400	Weak transcription	Left Ventricle	heart
14	chr2:114009200-114014400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr2:114009200-114015400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr2:114009800-114019000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:114010000-114016200	Enhancers	Primary T cells from cord blood	blood
18	chr2:114010000-114016200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr2:114010200-114014800	Weak transcription	Adipose Nuclei	Adipose
20	chr2:114010200-114014800	Weak transcription	Fetal Heart	heart
21	chr2:114010200-114014800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:114010200-114015000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:114010200-114015400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr2:114010200-114015800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr2:114010200-114030400	Weak transcription	GM12878-XiMat	blood
26	chr2:114010400-114022400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:114011200-114016200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:114012600-114015200	Weak transcription	A549	lung
29	chr2:114012800-114014800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:114013000-114015600	Strong transcription	Duodenum Mucosa	Duodenum
31	chr2:114013000-114016400	Weak transcription	Dnd41	blood
32	chr2:114013200-114014600	Strong transcription	Placenta	Placenta
33	chr2:114013200-114015600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:114013200-114016200	Enhancers	HSMMtube	muscle
35	chr2:114013200-114016400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr2:114013200-114019600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr2:114013400-114017600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:114013400-114018200	Weak transcription	Fetal Kidney	kidney
39	chr2:114013600-114015200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:114013600-114016000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:114013600-114020000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:114013800-114014400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr2:114013800-114014800	Weak transcription	Fetal Thymus	thymus
44	chr2:114013800-114014800	Weak transcription	Osteobl	bone
45	chr2:114013800-114016000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:114013800-114016200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:114013800-114016200	Enhancers	Psoas Muscle	Psoas
48	chr2:114013800-114016200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr2:114013800-114019800	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr2:114014000-114014400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links