Variant report

Variant	nsv599395
Chromosome Location	chr5:112370311-112428869
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:51)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:112426783..112429222-chr5:112432202..112433708,2	K562	blood:
2	chr5:112363970..112366861-chr5:112379639..112381179,2	K562	blood:
3	chr5:112368998..112372284-chr5:112372465..112374362,3	K562	blood:
4	chr5:112402187..112405327-chr5:112405857..112410029,4	K562	blood:
5	chr5:112384021..112386512-chr5:112388336..112390508,4	K562	blood:
6	chr5:112395182..112396947-chr5:112408525..112410110,2	MCF-7	breast:
7	chr5:112398620..112400244-chr5:112402557..112404477,2	K562	blood:
8	chr5:112393898..112396478-chr5:112407663..112409529,2	K562	blood:
9	chr5:112393898..112396478-chr5:112407663..112409529,2	K562	blood:
10	chr5:112384421..112386665-chr5:112391243..112394084,2	MCF-7	breast:
11	chr5:112361859..112364300-chr5:112370845..112373439,3	K562	blood:
12	chr5:112372883..112375761-chr5:112416823..112419304,2	K562	blood:
13	chr5:112368998..112372284-chr5:112372465..112374362,3	K562	blood:
14	chr5:112388639..112390521-chr5:112391893..112394492,2	MCF-7	breast:
15	chr5:112384421..112386665-chr5:112391243..112394084,2	MCF-7	breast:
16	chr5:112373432..112375747-chr5:112376830..112379641,2	K562	blood:
17	chr5:112421011..112422798-chr5:112448533..112450483,2	K562	blood:
18	chr5:112373432..112375747-chr5:112376830..112379641,2	K562	blood:
19	chr5:112378867..112380762-chr5:112388761..112390439,2	K562	blood:
20	chr5:112404865..112407461-chr5:112436712..112439575,2	MCF-7	breast:
21	chr5:112403827..112406035-chr5:112407847..112410916,3	K562	blood:
22	chr5:112417847..112420032-chr5:112422512..112424237,2	MCF-7	breast:
23	chr5:112428215..112429903-chr5:112440936..112443304,2	MCF-7	breast:
24	chr5:112372620..112374480-chr5:112377239..112378903,2	K562	blood:
25	chr5:112387805..112389786-chr5:112405042..112406689,2	K562	blood:
26	chr5:112370113..112371972-chr5:112381574..112383609,2	MCF-7	breast:
27	chr5:112388639..112390521-chr5:112391893..112394492,2	MCF-7	breast:
28	chr5:112370113..112371972-chr5:112381574..112383609,2	MCF-7	breast:
29	chr5:112377774..112380762-chr5:112388761..112390824,2	K562	blood:
30	chr5:112417847..112420032-chr5:112422512..112424237,2	MCF-7	breast:
31	chr5:112378867..112380762-chr5:112388761..112390439,2	K562	blood:
32	chr5:112402187..112405327-chr5:112405857..112410029,4	K562	blood:
33	chr5:112378846..112379838-chr5:112666004..112666840,2	MCF-7	breast:
34	chr5:112418552..112420515-chr5:112429812..112432103,2	MCF-7	breast:
35	chr5:112381725..112385379-chr5:112386016..112389315,3	MCF-7	breast:
36	chr5:112381725..112385379-chr5:112386016..112389315,3	MCF-7	breast:
37	chr5:112377774..112380762-chr5:112388761..112390824,2	K562	blood:
38	chr5:112395182..112396947-chr5:112408525..112410110,2	MCF-7	breast:
39	chr5:112400600..112402613-chr5:112406837..112408952,2	K562	blood:
40	chr5:112387805..112389786-chr5:112405042..112406689,2	K562	blood:
41	chr5:112312938..112314772-chr5:112369842..112371988,2	K562	blood:
42	chr5:112384021..112386512-chr5:112388336..112390508,4	K562	blood:
43	chr5:112372883..112375761-chr5:112416823..112419304,2	K562	blood:
44	chr5:112403827..112406035-chr5:112407847..112410916,3	K562	blood:
45	chr5:112428762..112430474-chr5:112437369..112439619,2	K562	blood:
46	chr5:112372620..112374480-chr5:112377239..112378903,2	K562	blood:
47	chr5:112367536..112370083-chr5:112388542..112390283,2	K562	blood:
48	chr5:112400600..112402613-chr5:112406837..112408952,2	K562	blood:
49	chr5:112256096..112258647-chr5:112382591..112384818,2	K562	blood:
50	chr5:112398620..112400244-chr5:112402557..112404477,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000129625	chromatin interactions

Extended variants
information (count: 3170 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:3170 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs878073	chr5:112370311-112370312	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548610136	chr5:112370333-112370334	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375927612	chr5:112370339-112370340	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554349368	chr5:112370353-112370354	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369061105	chr5:112370410-112370411	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566948181	chr5:112370420-112370421	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368486174	chr5:112370421-112370422	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183071632	chr5:112370430-112370431	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187449697	chr5:112370432-112370433	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537297984	chr5:112370439-112370440	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553292203	chr5:112370443-112370444	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191933492	chr5:112370446-112370447	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150715420	chr5:112370447-112370448	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570921352	chr5:112370478-112370479	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535241812	chr5:112370479-112370480	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76951956	chr5:112370480-112370481	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs878074	chr5:112370483-112370484	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs535591917	chr5:112370484-112370485	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550225894	chr5:112370502-112370503	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184105243	chr5:112370512-112370513	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556950952	chr5:112370519-112370520	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575206091	chr5:112370531-112370532	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs878075	chr5:112370533-112370534	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564428762	chr5:112370535-112370536	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573085745	chr5:112370553-112370554	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540025348	chr5:112370562-112370563	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148684622	chr5:112370579-112370580	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs878076	chr5:112370590-112370591	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs548277245	chr5:112370626-112370627	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563299490	chr5:112370630-112370631	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530947573	chr5:112370662-112370663	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552566002	chr5:112370669-112370670	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563803667	chr5:112370687-112370688	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189477256	chr5:112370688-112370689	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535040956	chr5:112370691-112370692	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192804083	chr5:112370718-112370719	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371328714	chr5:112370723-112370724	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547205927	chr5:112370771-112370772	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568673163	chr5:112370788-112370789	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184319420	chr5:112370789-112370790	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114029328	chr5:112370832-112370833	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189302063	chr5:112370848-112370849	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181940337	chr5:112370886-112370887	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4705754	chr5:112370939-112370940	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs186354942	chr5:112370961-112370962	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4705533	chr5:112370967-112370968	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs555094001	chr5:112370975-112370976	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189136021	chr5:112370983-112370984	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78784870	chr5:112370991-112370992	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181547525	chr5:112371017-112371018	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:1917 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112332400-112372600	Weak transcription	Fetal Brain Male	brain
2	chr5:112360000-112379000	Weak transcription	Small Intestine	intestine
3	chr5:112362800-112385800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:112363000-112374000	Weak transcription	Pancreas	Pancrea
5	chr5:112363600-112379000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:112363600-112379000	Weak transcription	Brain Substantia Nigra	brain
7	chr5:112363600-112379200	Weak transcription	Gastric	stomach
8	chr5:112363600-112379200	Weak transcription	Spleen	Spleen
9	chr5:112363600-112382800	Weak transcription	Fetal Intestine Small	intestine
10	chr5:112363800-112371000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:112363800-112372000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:112363800-112372200	Weak transcription	Fetal Brain Female	brain
13	chr5:112363800-112376200	Weak transcription	Dnd41	blood
14	chr5:112363800-112384600	Weak transcription	Aorta	Aorta
15	chr5:112363800-112386200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:112363800-112399000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:112363800-112409200	Weak transcription	Colonic Mucosa	Colon
18	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr5:112364000-112374200	Weak transcription	HUVEC	blood vessel
20	chr5:112364000-112374600	Weak transcription	Lung	lung
21	chr5:112364000-112379000	Weak transcription	Fetal Lung	lung
22	chr5:112364000-112389400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:112364200-112370400	Weak transcription	NHEK	skin
24	chr5:112364200-112386600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr5:112364600-112372200	Weak transcription	Fetal Kidney	kidney
26	chr5:112364600-112379000	Weak transcription	Brain Hippocampus Middle	brain
27	chr5:112364800-112370400	Weak transcription	HMEC	breast
28	chr5:112364800-112378800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr5:112364800-112382800	Weak transcription	Fetal Intestine Large	intestine
30	chr5:112364800-112382800	Weak transcription	Fetal Thymus	thymus
31	chr5:112365400-112371400	Enhancers	NH-A	brain
32	chr5:112365400-112372000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:112365600-112372000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:112365600-112376400	Weak transcription	Primary T cells from cord blood	blood
35	chr5:112365800-112372000	Weak transcription	Esophagus	oesophagus
36	chr5:112365800-112376800	Weak transcription	Thymus	Thymus
37	chr5:112365800-112382200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:112366000-112371800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:112366600-112379200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr5:112367600-112370400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:112367600-112370400	Weak transcription	Right Atrium	heart
42	chr5:112367600-112371200	Weak transcription	Placenta	Placenta
43	chr5:112367600-112372200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr5:112367600-112372200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr5:112367600-112372200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr5:112367600-112378200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:112367800-112372000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr5:112368000-112370600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:112368200-112371200	Enhancers	Osteobl	bone
50	chr5:112368200-112371400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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