Variant report

Variant	nsv584045
Chromosome Location	chr2:188949715-189003106
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	chr2:188964742..188967456-chr2:188978062..188980156,2	K562	blood:
2	chr2:72573103..72574031-chr2:188995710..188996539,2	MCF-7	breast:
3	chr2:188994483..188997942-chr2:189003518..189006979,3	K562	blood:
4	chr2:188959333..188961890-chr2:188963831..188966080,2	K562	blood:
5	chr2:188994514..188995025-chr2:189228372..189228945,2	MCF-7	breast:
6	chr2:188710121..188711814-chr2:188979120..188982025,2	MCF-7	breast:
7	chr11:9480847..9482961-chr2:188994843..188997685,2	MCF-7	breast:
8	chr2:188994299..188994907-chr2:189145390..189145988,2	MCF-7	breast:
9	chr2:188952317..188954845-chr2:189154060..189156611,2	K562	blood:
10	chr2:188964742..188967456-chr2:188978062..188980156,2	K562	blood:
11	chr2:188959333..188961890-chr2:188963831..188966080,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166478	chromatin interactions
ENSG00000268403	chromatin interactions
ENSG00000144366	chromatin interactions

Extended variants
information (count: 1784 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1784 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16829731	chr2:188949715-188949716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542470851	chr2:188949770-188949771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563957709	chr2:188949841-188949842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13396168	chr2:188949891-188949892	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs545811895	chr2:188949945-188949946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564061359	chr2:188949982-188949983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528083249	chr2:188949998-188949999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540287245	chr2:188950001-188950002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561649214	chr2:188950008-188950009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529028766	chr2:188950027-188950028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76198145	chr2:188950028-188950029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568810869	chr2:188950040-188950041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151304951	chr2:188950043-188950044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73977971	chr2:188950052-188950053	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs372385253	chr2:188950055-188950056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570793447	chr2:188950061-188950062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370701732	chr2:188950097-188950098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs202197200	chr2:188950104-188950105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200253602	chr2:188950107-188950108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560390863	chr2:188950108-188950109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552067326	chr2:188950118-188950119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143287338	chr2:188950122-188950123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536048007	chr2:188950132-188950133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190047419	chr2:188950139-188950140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575911904	chr2:188950165-188950166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546434811	chr2:188950203-188950204	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs558181724	chr2:188950288-188950289	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs151159174	chr2:188950292-188950293	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs549315215	chr2:188950332-188950333	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs181172087	chr2:188950339-188950340	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs75935477	chr2:188950358-188950359	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs561804030	chr2:188950388-188950389	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs529004471	chr2:188950391-188950392	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs543545449	chr2:188950430-188950431	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs368529811	chr2:188950431-188950432	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs562303777	chr2:188950438-188950439	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs184777695	chr2:188950439-188950440	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs72907984	chr2:188950442-188950443	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs189300308	chr2:188950444-188950445	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs374760161	chr2:188950451-188950452	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs529227024	chr2:188950455-188950456	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs549161038	chr2:188950471-188950472	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs2165151	chr2:188950532-188950533	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs78448563	chr2:188950618-188950619	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs371060511	chr2:188950631-188950632	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs568562779	chr2:188950683-188950684	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs181039588	chr2:188950736-188950737	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs1439911	chr2:188950772-188950773	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs569439260	chr2:188950785-188950786	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs539665417	chr2:188950850-188950851	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Tetralogy of Fallot	22912587	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188944600-188988000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:188947800-188949800	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:188948400-188950200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:188949800-188950400	Enhancers	Brain Hippocampus Middle	brain
5	chr2:188950000-188950400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr2:188950200-188950400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:188950200-188950600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:188950200-188950800	Active TSS	Brain Anterior Caudate	brain
9	chr2:188950400-188950600	Active TSS	Brain Angular Gyrus	brain
10	chr2:188950400-188950800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr2:188950400-188950800	Active TSS	Brain Hippocampus Middle	brain
12	chr2:188950400-188950800	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr2:188950400-188950800	Active TSS	Brain Substantia Nigra	brain
14	chr2:188950400-188951000	Active TSS	Brain Cingulate Gyrus	brain
15	chr2:188950600-188950800	Flanking Active TSS	Brain Angular Gyrus	brain
16	chr2:188950800-188951000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr2:188950800-188951000	Enhancers	Brain Substantia Nigra	brain
18	chr2:188954600-188955600	Enhancers	Fetal Lung	lung
19	chr2:188954600-188956800	Enhancers	HUVEC	blood vessel
20	chr2:188954800-188955200	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr2:188954800-188956200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:188955600-188956200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:188955600-188960000	Weak transcription	Fetal Lung	lung
24	chr2:188959800-188960200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:188960000-188960200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:188960000-188960600	Enhancers	Fetal Lung	lung
27	chr2:188960200-188968000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:188960600-188963000	Weak transcription	Fetal Lung	lung
29	chr2:188963000-188963200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:188963000-188963600	Enhancers	Fetal Lung	lung
31	chr2:188963200-188963600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:188968000-188968600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:188968000-188969600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:188968600-188969000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:188969800-188970400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:188970400-188971200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr2:188970600-188970800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr2:188970600-188971400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:188970600-188971600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:188971400-188971600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr2:188978400-188979000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr2:188978400-188979000	Enhancers	NH-A	brain
43	chr2:188978400-188979200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr2:188978600-188979000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:188978600-188979000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:188978600-188979000	Enhancers	Fetal Lung	lung
47	chr2:188978600-188979200	Enhancers	HUVEC	blood vessel
48	chr2:188979000-188982400	Weak transcription	Fetal Lung	lung
49	chr2:188979000-189001200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:188979400-189013600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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