Variant report

Variant	nsv519035
Chromosome Location	chr2:128195244-128210400
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:128205487..128208672-chr2:128208949..128211983,3	K562	blood:
2	chr2:128190834..128192414-chr2:128194744..128197239,2	K562	blood:
3	chr2:128144111..128146618-chr2:128194119..128196505,2	MCF-7	breast:
4	chr2:128180258..128182858-chr2:128194927..128196802,2	MCF-7	breast:
5	chr2:128195490..128198438-chr2:128232542..128234946,2	K562	blood:
6	chr2:128205487..128208672-chr2:128208949..128211983,3	K562	blood:
7	chr2:128143917..128147453-chr2:128209353..128212433,7	MCF-7	breast:
8	chr2:128143601..128146614-chr2:128208941..128211937,3	MCF-7	breast:
9	chr2:128208346..128210389-chr2:128213324..128215970,3	K562	blood:
10	chr2:128208346..128209986-chr2:128214038..128215970,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115718	chromatin interactions
ENSG00000264075	chromatin interactions
ENSG00000236682	chromatin interactions
ENSG00000169967	chromatin interactions

Extended variants
information (count: 602 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:602 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6754772	chr2:128195244-128195245	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75600804	chr2:128195350-128195351	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs73953612	chr2:128195372-128195373	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs6754999	chr2:128195387-128195388	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs551274387	chr2:128195389-128195390	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs567465894	chr2:128195396-128195397	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs6755028	chr2:128195442-128195443	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs555879576	chr2:128195448-128195449	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs372050087	chr2:128195449-128195450	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs530042767	chr2:128195481-128195482	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs181734372	chr2:128195501-128195502	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs543640959	chr2:128195502-128195503	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs148252426	chr2:128195557-128195558	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs557828023	chr2:128195579-128195580	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs116728920	chr2:128195590-128195591	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs137917043	chr2:128195612-128195613	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs557173006	chr2:128195653-128195654	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs139762023	chr2:128195679-128195680	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs375785732	chr2:128195681-128195682	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs200237155	chr2:128195684-128195685	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs374673480	chr2:128195697-128195698	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs565195692	chr2:128195773-128195774	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs573883576	chr2:128195793-128195794	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs79013053	chr2:128195798-128195799	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs559422489	chr2:128195818-128195819	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs528141692	chr2:128195825-128195826	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs544997637	chr2:128195831-128195832	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs564677913	chr2:128195909-128195910	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs201151623	chr2:128195921-128195922	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs186538190	chr2:128195938-128195939	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs369532526	chr2:128195959-128195960	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs73953614	chr2:128195974-128195975	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs561100811	chr2:128195976-128195977	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs150864992	chr2:128195984-128195985	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs139416755	chr2:128195995-128195996	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs566656838	chr2:128195999-128196000	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs566178860	chr2:128196043-128196044	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs368750596	chr2:128196047-128196048	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs538723194	chr2:128196076-128196077	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs534762712	chr2:128196129-128196130	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs551801068	chr2:128196176-128196177	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs150072773	chr2:128196179-128196180	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs537382924	chr2:128196190-128196191	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs557213603	chr2:128196192-128196193	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs191321497	chr2:128196197-128196198	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs536465358	chr2:128196202-128196203	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs1473623	chr2:128196220-128196221	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs182743265	chr2:128196261-128196262	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs544771978	chr2:128196274-128196275	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs537601766	chr2:128196287-128196288	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128181400-128196000	Weak transcription	Lung	lung
2	chr2:128181400-128209800	Weak transcription	Right Atrium	heart
3	chr2:128181600-128197200	Weak transcription	Brain Anterior Caudate	brain
4	chr2:128183000-128197000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:128186400-128195600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:128190200-128195600	Weak transcription	A549	lung
7	chr2:128193600-128195400	Enhancers	HepG2	liver
8	chr2:128194000-128196800	Enhancers	Liver	Liver
9	chr2:128194600-128196000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:128194600-128197200	Enhancers	Gastric	stomach
11	chr2:128194800-128196200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:128195000-128196400	Enhancers	Fetal Intestine Large	intestine
13	chr2:128195200-128195800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:128195200-128196000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:128195200-128196200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr2:128195200-128196200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:128195200-128196400	Enhancers	Fetal Intestine Small	intestine
18	chr2:128195200-128197000	Enhancers	Stomach Mucosa	stomach
19	chr2:128195200-128197400	Enhancers	Pancreas	Pancrea
20	chr2:128195400-128195600	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr2:128195400-128196600	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr2:128195400-128196600	Flanking Active TSS	HepG2	liver
23	chr2:128195600-128195800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:128195600-128196000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:128195600-128196200	Enhancers	Colonic Mucosa	Colon
26	chr2:128195600-128196400	Enhancers	A549	lung
27	chr2:128195600-128196600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr2:128195800-128197400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:128196000-128196200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:128196000-128196200	Enhancers	Lung	lung
31	chr2:128196000-128196400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:128196000-128197000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:128196200-128196800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:128196200-128196800	Weak transcription	Lung	lung
35	chr2:128196200-128211600	Weak transcription	Colonic Mucosa	Colon
36	chr2:128196400-128196600	Weak transcription	Fetal Intestine Small	intestine
37	chr2:128196600-128197600	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr2:128196600-128198400	Enhancers	HepG2	liver
39	chr2:128196800-128197200	Weak transcription	Liver	Liver
40	chr2:128196800-128197400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:128197000-128197200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:128197000-128197600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:128197200-128197800	ZNF genes & repeats	Brain Anterior Caudate	brain
44	chr2:128197200-128198400	ZNF genes & repeats	Liver	Liver
45	chr2:128198400-128199200	Weak transcription	HepG2	liver
46	chr2:128198400-128202400	Weak transcription	Liver	Liver
47	chr2:128199200-128199400	Enhancers	HepG2	liver
48	chr2:128202400-128203000	ZNF genes & repeats	Liver	Liver
49	chr2:128203000-128203800	Weak transcription	Liver	Liver
50	chr2:128203200-128206800	Weak transcription	Primary T cells from cord blood	blood

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