Variant report

Variant	nsv516887
Chromosome Location	chr5:112379659-112396174
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:112393898..112396478-chr5:112407663..112409529,2	K562	blood:
2	chr5:112378867..112380762-chr5:112388761..112390439,2	K562	blood:
3	chr5:112378846..112379838-chr5:112666004..112666840,2	MCF-7	breast:
4	chr5:112384421..112386665-chr5:112391243..112394084,2	MCF-7	breast:
5	chr5:112363970..112366861-chr5:112379639..112381179,2	K562	blood:
6	chr5:112377774..112380762-chr5:112388761..112390824,2	K562	blood:
7	chr5:112370113..112371972-chr5:112381574..112383609,2	MCF-7	breast:
8	chr5:112387805..112389786-chr5:112405042..112406689,2	K562	blood:
9	chr5:112384421..112386665-chr5:112391243..112394084,2	MCF-7	breast:
10	chr5:112378867..112380762-chr5:112388761..112390439,2	K562	blood:
11	chr5:112388639..112390521-chr5:112391893..112394492,2	MCF-7	breast:
12	chr5:112384021..112386512-chr5:112388336..112390508,4	K562	blood:
13	chr5:112384021..112386512-chr5:112388336..112390508,4	K562	blood:
14	chr5:112395182..112396947-chr5:112408525..112410110,2	MCF-7	breast:
15	chr5:112381725..112385379-chr5:112386016..112389315,3	MCF-7	breast:
16	chr5:112367536..112370083-chr5:112388542..112390283,2	K562	blood:
17	chr5:112256096..112258647-chr5:112382591..112384818,2	K562	blood:
18	chr5:112381725..112385379-chr5:112386016..112389315,3	MCF-7	breast:
19	chr5:112377774..112380762-chr5:112388761..112390824,2	K562	blood:
20	chr5:112388639..112390521-chr5:112391893..112394492,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000129625	chromatin interactions

Extended variants
information (count: 828 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:828 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7732198	chr5:112379659-112379660	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs201243761	chr5:112379696-112379697	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs67726467	chr5:112379697-112379698	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs201829644	chr5:112379699-112379700	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs376332035	chr5:112379710-112379711	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs185889976	chr5:112379728-112379729	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs534587345	chr5:112379786-112379787	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs552735146	chr5:112379813-112379814	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143920970	chr5:112379861-112379862	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs118111233	chr5:112379878-112379879	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541762649	chr5:112379891-112379892	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190211432	chr5:112379905-112379906	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536877330	chr5:112379910-112379911	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182500364	chr5:112379959-112379960	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6872473	chr5:112379964-112379965	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs11749921	chr5:112380060-112380061	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs375752679	chr5:112380126-112380127	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6897972	chr5:112380159-112380160	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs116486000	chr5:112380162-112380163	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559488711	chr5:112380190-112380191	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372415013	chr5:112380191-112380192	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530376124	chr5:112380192-112380193	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116005122	chr5:112380193-112380194	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563879745	chr5:112380211-112380212	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13185006	chr5:112380217-112380218	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs375463810	chr5:112380238-112380239	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370335593	chr5:112380251-112380252	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115564076	chr5:112380270-112380271	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568931744	chr5:112380309-112380310	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs202201973	chr5:112380350-112380351	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534757284	chr5:112380366-112380367	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140707816	chr5:112380374-112380375	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186873719	chr5:112380375-112380376	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374404109	chr5:112380396-112380397	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192588820	chr5:112380405-112380406	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184038527	chr5:112380425-112380426	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575189404	chr5:112380429-112380430	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557411350	chr5:112380459-112380460	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539239057	chr5:112380472-112380473	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188956361	chr5:112380484-112380485	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576876261	chr5:112380506-112380507	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540507413	chr5:112380531-112380532	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192991066	chr5:112380551-112380552	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115434844	chr5:112380612-112380613	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4705534	chr5:112380614-112380615	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs142530886	chr5:112380646-112380647	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184294358	chr5:112380655-112380656	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531274645	chr5:112380707-112380708	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552801364	chr5:112380720-112380721	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550694288	chr5:112380721-112380722	Weak transcription Strong transcription Genic enhancers Enhancers	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
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:727 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112362800-112385800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:112363600-112382800	Weak transcription	Fetal Intestine Small	intestine
3	chr5:112363800-112384600	Weak transcription	Aorta	Aorta
4	chr5:112363800-112386200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:112363800-112399000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:112363800-112409200	Weak transcription	Colonic Mucosa	Colon
7	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr5:112364000-112389400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr5:112364200-112386600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr5:112364800-112382800	Weak transcription	Fetal Intestine Large	intestine
11	chr5:112364800-112382800	Weak transcription	Fetal Thymus	thymus
12	chr5:112365800-112382200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:112368800-112382800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:112369200-112380200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:112369400-112382800	Strong transcription	Liver	Liver
16	chr5:112370200-112406600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:112370600-112382800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:112370600-112396600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:112371000-112383400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:112371400-112382600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:112371400-112391400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:112371400-112423800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:112371600-112394200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:112372600-112384000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:112372800-112396800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:112373000-112381400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:112373000-112382600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:112373000-112382800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr5:112373000-112383000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:112373000-112398800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:112373200-112399000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr5:112374600-112383200	Weak transcription	Fetal Kidney	kidney
33	chr5:112374800-112382400	Weak transcription	HSMMtube	muscle
34	chr5:112374800-112383200	Weak transcription	Osteobl	bone
35	chr5:112374800-112386000	Weak transcription	NHDF-Ad	bronchial
36	chr5:112374800-112386200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:112375000-112402600	Weak transcription	Pancreas	Pancrea
38	chr5:112375200-112384400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:112375400-112380000	Weak transcription	Lung	lung
40	chr5:112375400-112380600	Weak transcription	HMEC	breast
41	chr5:112377400-112379800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:112377400-112386400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr5:112377400-112389000	Weak transcription	Primary T cells from cord blood	blood
44	chr5:112378200-112379800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:112378200-112383000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:112378600-112379800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr5:112378600-112379800	Strong transcription	Esophagus	oesophagus
48	chr5:112378600-112379800	Enhancers	Ovary	ovary
49	chr5:112378600-112379800	Enhancers	NH-A	brain
50	chr5:112378800-112379800	Enhancers	Brain Anterior Caudate	brain

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