Variant report

Variant	nsv1003540
Chromosome Location	chr3:178875803-178886293
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	chr3:178872310..178876129-chr3:178876945..178878643,3	MCF-7	breast:
2	chr3:178872310..178876129-chr3:178876945..178878643,3	MCF-7	breast:
3	chr3:178884097..178886726-chr3:178940111..178942496,2	K562	blood:
4	chr3:178883567..178885115-chr3:178885473..178887362,2	K562	blood:
5	chr3:178882042..178883552-chr3:178887353..178888877,2	K562	blood:
6	chr3:178883467..178885785-chr3:178891482..178893959,2	K562	blood:
7	chr3:178884535..178886468-chr3:178887552..178889136,2	K562	blood:
8	chr3:178865422..178866948-chr3:178884779..178886698,2	K562	blood:
9	chr3:178867742..178870161-chr3:178876132..178878163,2	MCF-7	breast:
10	chr3:178865580..178867325-chr3:178880643..178882507,2	MCF-7	breast:
11	chr3:178872506..178874182-chr3:178879392..178881985,2	K562	blood:
12	chr3:178869977..178872315-chr3:178873899..178875807,3	K562	blood:
13	chr3:178872334..178874182-chr3:178879861..178881985,2	K562	blood:
14	chr3:178876264..178878992-chr3:178879301..178882016,3	K562	blood:
15	chr3:178876883..178879796-chr3:178884449..178887188,2	MCF-7	breast:
16	chr3:178876264..178878992-chr3:178879301..178882016,3	K562	blood:
17	chr3:178864911..178866513-chr3:178885186..178888175,2	MCF-7	breast:
18	chr3:178873426..178876051-chr3:178876789..178878414,2	K562	blood:
19	chr3:178873426..178875261-chr3:178876713..178879813,4	K562	blood:
20	chr3:178873426..178876051-chr3:178876789..178878414,2	K562	blood:

No data

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

Extended variants
information (count: 362 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115257475	chr3:178875867-178875868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534698205	chr3:178875892-178875893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531102545	chr3:178875956-178875957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114578017	chr3:178875994-178875995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557663713	chr3:178876010-178876011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189079280	chr3:178876025-178876026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149558074	chr3:178876039-178876040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111699841	chr3:178876082-178876083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146306870	chr3:178876098-178876099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139061768	chr3:178876199-178876200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78735718	chr3:178876208-178876209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193286466	chr3:178876243-178876244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538118546	chr3:178876258-178876259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554939038	chr3:178876260-178876261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568017607	chr3:178876298-178876299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533577617	chr3:178876324-178876325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553784220	chr3:178876333-178876334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142845249	chr3:178876422-178876423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575716654	chr3:178876452-178876453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372432272	chr3:178876458-178876459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116045872	chr3:178876460-178876461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184765113	chr3:178876632-178876633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74363659	chr3:178876658-178876659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189146379	chr3:178876684-178876685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs59988180	chr3:178876712-178876713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71927766	chr3:178876713-178876714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs397776624	chr3:178876718-178876719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561444039	chr3:178876748-178876749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181440789	chr3:178876782-178876783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371886519	chr3:178876797-178876798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142621058	chr3:178876860-178876861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375321806	chr3:178876867-178876868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560572647	chr3:178876900-178876901	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs185729982	chr3:178876932-178876933	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs571506381	chr3:178876945-178876946	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs528269179	chr3:178877009-178877010	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs147434500	chr3:178877027-178877028	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs531554460	chr3:178877032-178877033	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs551104603	chr3:178877038-178877039	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs533983630	chr3:178877095-178877096	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs570970045	chr3:178877133-178877134	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs568271071	chr3:178877176-178877177	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs376193254	chr3:178877238-178877239	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533742043	chr3:178877275-178877276	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs547069806	chr3:178877324-178877325	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs570476544	chr3:178877335-178877336	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs539129957	chr3:178877386-178877387	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs190014496	chr3:178877391-178877392	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs113480651	chr3:178877404-178877405	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs575404905	chr3:178877423-178877424	Weak transcription Enhancers Strong transcription	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:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178867200-178878200	Weak transcription	Gastric	stomach
2	chr3:178867600-178878200	Weak transcription	Pancreas	Pancrea
3	chr3:178867600-178882400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:178867600-178883400	Weak transcription	Stomach Mucosa	stomach
5	chr3:178867800-178878000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:178867800-178878200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr3:178867800-178878200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:178867800-178900200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:178868000-178878200	Weak transcription	Right Atrium	heart
10	chr3:178868000-178892400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr3:178868400-178876000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr3:178868600-178876200	Weak transcription	NHDF-Ad	bronchial
13	chr3:178868600-178881400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:178868600-178893000	Weak transcription	Aorta	Aorta
15	chr3:178869200-178898000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr3:178869400-178887200	Weak transcription	Fetal Brain Male	brain
17	chr3:178869800-178877400	Weak transcription	Right Ventricle	heart
18	chr3:178869800-178877800	Weak transcription	Ovary	ovary
19	chr3:178869800-178878200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr3:178869800-178883400	Weak transcription	Liver	Liver
21	chr3:178870000-178880600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr3:178870600-178876000	Weak transcription	Fetal Heart	heart
23	chr3:178870800-178876000	Weak transcription	GM12878-XiMat	blood
24	chr3:178870800-178896400	Weak transcription	K562	blood
25	chr3:178872000-178876200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr3:178872400-178876000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:178872400-178876200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:178872400-178878200	Weak transcription	Left Ventricle	heart
29	chr3:178872400-178883200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr3:178872800-178877600	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr3:178873600-178876200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:178873800-178879200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr3:178874000-178876200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr3:178874000-178877400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:178874000-178877800	Enhancers	Primary T cells from cord blood	blood
36	chr3:178874000-178880400	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr3:178874400-178880200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr3:178874400-178880600	Weak transcription	HSMM	muscle
39	chr3:178874600-178876000	Weak transcription	Brain Hippocampus Middle	brain
40	chr3:178874600-178883000	Weak transcription	Colon Smooth Muscle	Colon
41	chr3:178874800-178876000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr3:178874800-178877800	Weak transcription	Psoas Muscle	Psoas
43	chr3:178874800-178878200	Weak transcription	Adipose Nuclei	Adipose
44	chr3:178874800-178878200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr3:178874800-178878800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr3:178874800-178878800	Weak transcription	NHEK	skin
47	chr3:178874800-178883400	Weak transcription	Fetal Kidney	kidney
48	chr3:178874800-178888600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr3:178875000-178876000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr3:178875000-178876400	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links