Variant report

Variant	nsv822351
Chromosome Location	chr3:178878517-178883804
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:178882042..178883552-chr3:178887353..178888877,2	K562	blood:
2	chr3:178872506..178874182-chr3:178879392..178881985,2	K562	blood:
3	chr3:178865580..178867325-chr3:178880643..178882507,2	MCF-7	breast:
4	chr3:178876264..178878992-chr3:178879301..178882016,3	K562	blood:
5	chr3:178876883..178879796-chr3:178884449..178887188,2	MCF-7	breast:
6	chr3:178883567..178885115-chr3:178885473..178887362,2	K562	blood:
7	chr3:178872334..178874182-chr3:178879861..178881985,2	K562	blood:
8	chr3:178883467..178885785-chr3:178891482..178893959,2	K562	blood:
9	chr3:178876264..178878992-chr3:178879301..178882016,3	K562	blood:
10	chr3:178873426..178875261-chr3:178876713..178879813,4	K562	blood:
11	chr3:178872310..178876129-chr3:178876945..178878643,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000201957	chromatin interactions
ENSG00000229102	chromatin interactions
ENSG00000121879	chromatin interactions

Extended variants
information (count: 196 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533480633	chr3:178878524-178878525	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs143890209	chr3:178878533-178878534	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs559214528	chr3:178878554-178878555	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs200954525	chr3:178878572-178878573	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs564041450	chr3:178878592-178878593	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528281566	chr3:178878615-178878616	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4855095	chr3:178878642-178878643	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs182745785	chr3:178878733-178878734	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs10664393	chr3:178878740-178878741	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34094705	chr3:178878741-178878742	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs397756715	chr3:178878744-178878745	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs146891612	chr3:178878757-178878758	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs528931934	chr3:178878774-178878775	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549094505	chr3:178878789-178878790	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs148974719	chr3:178878810-178878811	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534427689	chr3:178878823-178878824	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371251289	chr3:178878842-178878843	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs571170407	chr3:178878893-178878894	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs540178787	chr3:178878894-178878895	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs556596185	chr3:178878960-178878961	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs143781506	chr3:178879055-178879056	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs541944553	chr3:178879060-178879061	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs555849989	chr3:178879077-178879078	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs151093545	chr3:178879082-178879083	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563704236	chr3:178879109-178879110	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs374198559	chr3:178879131-178879132	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs140976249	chr3:178879160-178879161	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs115682193	chr3:178879211-178879212	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs543340101	chr3:178879222-178879223	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs146561759	chr3:178879255-178879256	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs6771010	chr3:178879269-178879270	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs112300804	chr3:178879313-178879314	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs56023503	chr3:178879314-178879315	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs375241825	chr3:178879356-178879357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs78141014	chr3:178879375-178879376	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527841157	chr3:178879377-178879378	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548001751	chr3:178879399-178879400	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs571106949	chr3:178879400-178879401	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529648282	chr3:178879441-178879442	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs540118326	chr3:178879442-178879443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs187352791	chr3:178879453-178879454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs192965865	chr3:178879537-178879538	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs77078137	chr3:178879540-178879541	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs535843607	chr3:178879547-178879548	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs555535662	chr3:178879560-178879561	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs34284093	chr3:178879561-178879562	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs572489713	chr3:178879564-178879565	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs559987657	chr3:178879569-178879570	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs573798426	chr3:178879637-178879638	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs534852844	chr3:178879660-178879661	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Endometrial cancer	19261849	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Autism	20685689	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Human papillomavirus	17975027	CNVD
Adenocarcinoma	18757405	CNVD
Lung cancer	18757405	CNVD
Squamous cell cancer	18757405	CNVD
small cell lung cancer	18757405	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178867600-178882400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:178867600-178883400	Weak transcription	Stomach Mucosa	stomach
3	chr3:178867800-178900200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:178868000-178892400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr3:178868600-178881400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:178868600-178893000	Weak transcription	Aorta	Aorta
7	chr3:178869200-178898000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr3:178869400-178887200	Weak transcription	Fetal Brain Male	brain
9	chr3:178869800-178883400	Weak transcription	Liver	Liver
10	chr3:178870000-178880600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:178870800-178896400	Weak transcription	K562	blood
12	chr3:178872400-178883200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:178873800-178879200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:178874000-178880400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr3:178874400-178880200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr3:178874400-178880600	Weak transcription	HSMM	muscle
17	chr3:178874600-178883000	Weak transcription	Colon Smooth Muscle	Colon
18	chr3:178874800-178878800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr3:178874800-178878800	Weak transcription	NHEK	skin
20	chr3:178874800-178883400	Weak transcription	Fetal Kidney	kidney
21	chr3:178874800-178888600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr3:178875200-178879200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr3:178875400-178880400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr3:178875600-178879400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr3:178875800-178879400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr3:178876000-178879000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr3:178876400-178878600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:178876800-178884200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr3:178877000-178878600	Strong transcription	Primary B cells from cord blood	blood
30	chr3:178877000-178883400	Weak transcription	Fetal Heart	heart
31	chr3:178877200-178880400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:178877400-178879000	Enhancers	Right Ventricle	heart
33	chr3:178877400-178897800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:178877600-178878600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr3:178877800-178879000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr3:178877800-178879000	Enhancers	Ovary	ovary
37	chr3:178877800-178879000	Enhancers	Psoas Muscle	Psoas
38	chr3:178878200-178879000	Enhancers	Gastric	stomach
39	chr3:178878200-178879000	Enhancers	Pancreas	Pancrea
40	chr3:178878200-178879000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr3:178878200-178879000	Enhancers	Spleen	Spleen
42	chr3:178878200-178879200	Enhancers	Primary T cells from cord blood	blood
43	chr3:178878200-178879200	Enhancers	Adipose Nuclei	Adipose
44	chr3:178878200-178879400	Enhancers	Primary B cells from peripheral blood	blood
45	chr3:178878200-178879400	Enhancers	Primary T cells fromperipheralblood	blood
46	chr3:178878200-178879400	Enhancers	Right Atrium	heart
47	chr3:178878200-178879600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr3:178878200-178879600	Enhancers	Left Ventricle	heart
49	chr3:178878200-178879600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr3:178878600-178879200	Genic enhancers	Primary B cells from cord blood	blood

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