Variant report

Variant	nsv2934
Chromosome Location	chr2:134368478-134412454
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:42529282..42529919-chr2:134391577..134392424,2	MCF-7	breast:
2	chr2:134263749..134265675-chr2:134399274..134401241,2	MCF-7	breast:
3	chr2:134383649..134385456-chr2:134399469..134401121,2	MCF-7	breast:
4	chr2:134386454..134389246-chr2:134397997..134400619,2	MCF-7	breast:
5	chr2:134404986..134407643-chr2:134417427..134419561,2	MCF-7	breast:
6	chr2:134386454..134389246-chr2:134397997..134400619,2	MCF-7	breast:
7	chr2:134393103..134394680-chr2:134395761..134398691,2	MCF-7	breast:
8	chr2:134393103..134394680-chr2:134395761..134398691,2	MCF-7	breast:
9	chr2:134020041..134020759-chr2:134398921..134399467,2	MCF-7	breast:
10	chr2:134383649..134385456-chr2:134399469..134401121,2	MCF-7	breast:
11	chr2:134365245..134367451-chr2:134398214..134401016,3	MCF-7	breast:

No data

Extended variants
information (count: 1592 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1592 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1669468	chr2:134368495-134368496	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186169126	chr2:134368561-134368562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567483201	chr2:134368608-134368609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534738670	chr2:134368642-134368643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368993740	chr2:134368683-134368684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189796710	chr2:134368686-134368687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34011435	chr2:134368697-134368698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79332875	chr2:134368704-134368705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397870884	chr2:134368705-134368706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541471104	chr2:134368739-134368740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557174243	chr2:134368812-134368813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377233532	chr2:134368826-134368827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575470970	chr2:134368837-134368838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151188458	chr2:134368838-134368839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575963204	chr2:134368842-134368843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563967723	chr2:134368844-134368845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576921253	chr2:134368856-134368857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541167347	chr2:134368925-134368926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182089676	chr2:134368926-134368927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187041186	chr2:134368949-134368950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556305214	chr2:134369023-134369024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548311266	chr2:134369025-134369026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139155846	chr2:134369032-134369033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551306590	chr2:134369052-134369053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1669467	chr2:134369056-134369057	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs116765261	chr2:134369066-134369067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190981964	chr2:134369074-134369075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59654119	chr2:134369078-134369079	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs78721676	chr2:134369099-134369100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1653796	chr2:134369155-134369156	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs116623962	chr2:134369177-134369178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149946831	chr2:134369185-134369186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575473406	chr2:134369239-134369240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539393781	chr2:134369242-134369243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145095900	chr2:134369246-134369247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572658790	chr2:134369262-134369263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149124209	chr2:134369299-134369300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540039171	chr2:134369341-134369342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183255121	chr2:134369360-134369361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574849368	chr2:134369362-134369363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542193079	chr2:134369366-134369367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1669466	chr2:134369367-134369368	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs11891381	chr2:134369379-134369380	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs188526621	chr2:134369382-134369383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1614797	chr2:134369383-134369384	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs371892001	chr2:134369416-134369417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528650564	chr2:134369458-134369459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547236740	chr2:134369463-134369464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193072185	chr2:134369539-134369540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535224485	chr2:134369565-134369566	Enhancers Weak transcription	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
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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134360200-134368600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:134363600-134371800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:134364800-134373200	Weak transcription	Brain Anterior Caudate	brain
4	chr2:134367400-134370000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:134367600-134370200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:134368000-134368600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:134368000-134389800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:134368200-134370400	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:134368200-134378800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:134368200-134382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:134368200-134382000	Weak transcription	NHEK	skin
12	chr2:134368600-134368800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr2:134368600-134368800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:134368600-134369800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:134369800-134370000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:134370000-134370200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:134370200-134372000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:134370400-134370600	Enhancers	Brain Hippocampus Middle	brain
19	chr2:134371200-134371800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:134377600-134385200	Weak transcription	Brain Substantia Nigra	brain
21	chr2:134380800-134382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:134381200-134383200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:134382000-134382200	Enhancers	Brain Angular Gyrus	brain
24	chr2:134382000-134382400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:134382000-134382400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:134382000-134382600	Enhancers	NHEK	skin
27	chr2:134382400-134389600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:134382400-134389600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:134382600-134389600	Weak transcription	NHEK	skin
30	chr2:134384000-134385000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:134385000-134385600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr2:134385000-134385600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr2:134385000-134385600	Enhancers	Brain Hippocampus Middle	brain
34	chr2:134385000-134385600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr2:134385000-134386000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:134385000-134386200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:134385000-134386400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:134385200-134385600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:134385200-134385600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr2:134385200-134385600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr2:134385200-134385600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr2:134385200-134385600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:134385200-134385600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:134385200-134385600	Enhancers	Brain Cingulate Gyrus	brain
45	chr2:134385200-134385600	Enhancers	Brain Substantia Nigra	brain
46	chr2:134385200-134386000	Enhancers	Brain Angular Gyrus	brain
47	chr2:134385200-134386000	Enhancers	Brain Anterior Caudate	brain
48	chr2:134385200-134390600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:134385400-134385800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr2:134385400-134386000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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