Variant report

Variant	nsv459640
Chromosome Location	chr2:142291211-142345574
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:142303735..142305902-chr2:142307985..142310549,2	K562	blood:
2	chr2:142285408..142288288-chr2:142294613..142297064,2	MCF-7	breast:
3	chr2:142303735..142305902-chr2:142307985..142310549,2	K562	blood:
4	chr2:142320561..142322150-chr2:142885194..142887458,2	MCF-7	breast:
5	chr2:142317711..142321512-chr2:142324977..142327310,3	MCF-7	breast:
6	chr2:142299065..142301455-chr2:142302719..142305386,2	MCF-7	breast:
7	chr2:142308972..142312076-chr2:142313360..142316898,3	K562	blood:
8	chr2:142291504..142294290-chr2:142295014..142296558,2	MCF-7	breast:
9	chr2:142308972..142312076-chr2:142313360..142316898,3	K562	blood:
10	chr2:142317711..142321512-chr2:142324977..142327310,3	MCF-7	breast:
11	chr2:142299065..142301455-chr2:142302719..142305386,2	MCF-7	breast:
12	chr2:142322809..142324424-chr2:142379273..142380846,2	MCF-7	breast:
13	chr2:129063359..129065202-chr2:142304288..142305941,2	MCF-7	breast:
14	chr2:142288498..142290059-chr2:142292199..142295076,2	MCF-7	breast:
15	chr2:142259500..142260427-chr2:142322823..142323400,2	MCF-7	breast:
16	chr2:142291504..142294290-chr2:142295014..142296558,2	MCF-7	breast:

No data

Extended variants
information (count: 1397 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1397 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12052672	chr2:142291211-142291212	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555242987	chr2:142291291-142291292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139706087	chr2:142291295-142291296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565814240	chr2:142291300-142291301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550063942	chr2:142291334-142291335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367825724	chr2:142291344-142291345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576596177	chr2:142291353-142291354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149846836	chr2:142291377-142291378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538848904	chr2:142291380-142291381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12993511	chr2:142291389-142291390	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541054831	chr2:142291402-142291403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145885199	chr2:142291438-142291439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114658833	chr2:142291447-142291448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554969633	chr2:142291482-142291483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574898023	chr2:142291516-142291517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140662276	chr2:142291537-142291538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368063521	chr2:142291563-142291564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368927539	chr2:142291572-142291573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72372204	chr2:142291613-142291614	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs34536970	chr2:142291616-142291617	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs13020679	chr2:142291625-142291626	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs574882716	chr2:142291626-142291627	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs563562857	chr2:142291627-142291628	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs12994159	chr2:142291637-142291638	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs12691614	chr2:142291732-142291733	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs62167940	chr2:142291770-142291771	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs72992773	chr2:142291811-142291812	Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs368579378	chr2:142291867-142291868	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs559509335	chr2:142291888-142291889	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs528139504	chr2:142291932-142291933	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs145746233	chr2:142291935-142291936	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs16846417	chr2:142291944-142291945	Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs183324039	chr2:142291945-142291946	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs1483139	chr2:142291951-142291952	Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs377192240	chr2:142291957-142291958	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs140269309	chr2:142291982-142291983	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs370371837	chr2:142292003-142292004	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs374920681	chr2:142292016-142292017	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs539349051	chr2:142292026-142292027	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs552469932	chr2:142292030-142292031	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs566279649	chr2:142292089-142292090	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs535082580	chr2:142292123-142292124	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs143510064	chr2:142292128-142292129	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs568606519	chr2:142292142-142292143	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs115014559	chr2:142292164-142292165	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs202005240	chr2:142292174-142292175	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs186992208	chr2:142292185-142292186	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs76144694	chr2:142292188-142292189	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs12469897	chr2:142292203-142292204	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs573432998	chr2:142292210-142292211	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	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
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	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142280600-142291600	Weak transcription	Brain Hippocampus Middle	brain
2	chr2:142284600-142291600	Weak transcription	Brain Substantia Nigra	brain
3	chr2:142287600-142291600	Weak transcription	GM12878-XiMat	blood
4	chr2:142291000-142291800	Enhancers	Primary B cells from cord blood	blood
5	chr2:142291200-142291600	Enhancers	Brain Anterior Caudate	brain
6	chr2:142291200-142292000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:142291200-142292000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:142291200-142292200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:142291200-142292400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:142291200-142293200	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:142291200-142293400	Enhancers	Primary B cells from peripheral blood	blood
12	chr2:142291200-142293400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr2:142291600-142291800	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr2:142291600-142291800	Flanking Active TSS	Brain Substantia Nigra	brain
15	chr2:142291600-142292000	Enhancers	GM12878-XiMat	blood
16	chr2:142291600-142292200	Active TSS	Brain Cingulate Gyrus	brain
17	chr2:142291600-142293200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:142291600-142293400	Enhancers	Primary T cells from cord blood	blood
19	chr2:142291600-142293400	Enhancers	Brain Hippocampus Middle	brain
20	chr2:142291800-142292000	Active TSS	Brain Anterior Caudate	brain
21	chr2:142291800-142292000	Active TSS	Brain Substantia Nigra	brain
22	chr2:142291800-142292400	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr2:142291800-142293000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:142291800-142293400	Enhancers	Dnd41	blood
25	chr2:142292000-142292200	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr2:142292000-142292400	Flanking Active TSS	Brain Substantia Nigra	brain
27	chr2:142292000-142292800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr2:142292000-142292800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:142292000-142293000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:142292000-142293000	Flanking Active TSS	GM12878-XiMat	blood
31	chr2:142292000-142293400	Enhancers	Brain Angular Gyrus	brain
32	chr2:142292200-142292400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr2:142292200-142292600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:142292200-142292600	Active TSS	Brain Anterior Caudate	brain
35	chr2:142292200-142292600	Active TSS	Stomach Smooth Muscle	stomach
36	chr2:142292200-142292800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:142292200-142292800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:142292200-142292800	Enhancers	Fetal Brain Female	brain
39	chr2:142292200-142292800	Enhancers	Fetal Heart	heart
40	chr2:142292200-142292800	Enhancers	Fetal Stomach	stomach
41	chr2:142292200-142293000	Enhancers	Brain Cingulate Gyrus	brain
42	chr2:142292400-142292600	Enhancers	Primary B cells from cord blood	blood
43	chr2:142292400-142292600	Active TSS	Brain Substantia Nigra	brain
44	chr2:142292400-142292800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:142292400-142292800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:142292400-142292800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr2:142292400-142292800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:142292400-142292800	Active TSS	Monocytes-CD14+_RO01746	blood
49	chr2:142292400-142293000	Enhancers	Colon Smooth Muscle	Colon
50	chr2:142292600-142292800	Flanking Active TSS	Primary B cells from cord blood	blood

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