Variant report

Variant	nsv979136
Chromosome Location	chr2:152658041-152659722
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:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:152658528..152660936-chr2:152662240..152664353,2	K562	blood:
2	chr2:152653051..152655697-chr2:152658456..152660415,2	K562	blood:
3	chr2:152655681..152658497-chr2:152663463..152665219,2	K562	blood:
4	chr2:152656997..152660180-chr2:152663044..152665529,3	K562	blood:
5	chr2:152644348..152647772-chr2:152655102..152659949,6	K562	blood:
6	chr2:152657917..152660487-chr2:152685208..152686908,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ARL5A	hsa-miR-155-5p	chr2:152658856-152658878

Extended variants
information (count: 69 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551272122	chr2:152658081-152658082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368915073	chr2:152658098-152658099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76387552	chr2:152658114-152658115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530400351	chr2:152658138-152658139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546637382	chr2:152658157-152658158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566519652	chr2:152658175-152658176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117083054	chr2:152658201-152658202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552210327	chr2:152658254-152658255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571443527	chr2:152658275-152658276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536812334	chr2:152658283-152658284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557094664	chr2:152658309-152658310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567494172	chr2:152658314-152658315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536539066	chr2:152658342-152658343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553011729	chr2:152658374-152658375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184101860	chr2:152658376-152658377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545146927	chr2:152658385-152658386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141448150	chr2:152658391-152658392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145188296	chr2:152658395-152658396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544508673	chr2:152658402-152658403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561531505	chr2:152658428-152658429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144730760	chr2:152658446-152658447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543819015	chr2:152658527-152658528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530367243	chr2:152658539-152658540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540485185	chr2:152658551-152658552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13428623	chr2:152658577-152658578	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs200949920	chr2:152658622-152658623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532475926	chr2:152658636-152658637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532347374	chr2:152658683-152658684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186394807	chr2:152658698-152658699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140772338	chr2:152658701-152658702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531826472	chr2:152658740-152658741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189627810	chr2:152658742-152658743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182351649	chr2:152658749-152658750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369149829	chr2:152658799-152658800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553275572	chr2:152658816-152658817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186969549	chr2:152658818-152658819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372896293	chr2:152658881-152658882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375081080	chr2:152658882-152658883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150122870	chr2:152658971-152658972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192928398	chr2:152658982-152658983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369549359	chr2:152659040-152659041	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183322511	chr2:152659078-152659079	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79886308	chr2:152659093-152659094	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115325184	chr2:152659116-152659117	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547481913	chr2:152659119-152659120	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570066059	chr2:152659136-152659137	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560381883	chr2:152659248-152659249	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547140895	chr2:152659312-152659313	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532653981	chr2:152659327-152659328	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77715973	chr2:152659348-152659349	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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
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
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152616800-152662400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:152617000-152669400	Weak transcription	Gastric	stomach
3	chr2:152619000-152677400	Weak transcription	Brain Substantia Nigra	brain
4	chr2:152622200-152661800	Weak transcription	Fetal Kidney	kidney
5	chr2:152623000-152680000	Weak transcription	Spleen	Spleen
6	chr2:152623400-152658800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr2:152623400-152659000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:152623600-152659000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:152624000-152662600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:152625400-152660000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:152629000-152661800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:152631400-152667200	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:152631600-152661800	Weak transcription	HMEC	breast
14	chr2:152632000-152659000	Weak transcription	NHLF	lung
15	chr2:152632200-152679200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:152633000-152662200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:152634000-152665400	Weak transcription	Fetal Stomach	stomach
18	chr2:152634000-152683400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:152634200-152661000	Weak transcription	A549	lung
20	chr2:152634600-152661800	Weak transcription	NHEK	skin
21	chr2:152634800-152658200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:152634800-152672200	Weak transcription	Right Ventricle	heart
23	chr2:152635600-152659000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:152636000-152662400	Weak transcription	Fetal Brain Female	brain
25	chr2:152636400-152659000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:152636400-152661800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:152636600-152661600	Weak transcription	Colonic Mucosa	Colon
28	chr2:152637000-152659000	Weak transcription	Fetal Brain Male	brain
29	chr2:152638600-152661800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:152638600-152662000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:152638600-152665200	Weak transcription	Pancreas	Pancrea
32	chr2:152638600-152671000	Weak transcription	Thymus	Thymus
33	chr2:152638800-152665200	Weak transcription	Fetal Intestine Small	intestine
34	chr2:152638800-152668200	Weak transcription	Lung	lung
35	chr2:152638800-152672800	Weak transcription	Aorta	Aorta
36	chr2:152639600-152659000	Weak transcription	Fetal Lung	lung
37	chr2:152640600-152658800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:152642000-152659000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:152642000-152661800	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:152642000-152665400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr2:152642200-152658200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr2:152642200-152661200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:152642200-152662000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr2:152642200-152670400	Weak transcription	Brain Angular Gyrus	brain
45	chr2:152642400-152659000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr2:152642400-152659000	Weak transcription	Brain Anterior Caudate	brain
47	chr2:152642400-152661200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:152642800-152658200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:152642800-152658800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:152642800-152659000	Weak transcription	Fetal Thymus	thymus

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