Variant report

Variant	nsv1008362
Chromosome Location	chr3:119901774-119919670
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:119905802..119907944-chr3:119913665..119916564,2	MCF-7	breast:
2	chr3:119866110..119866732-chr3:119901277..119902219,2	MCF-7	breast:
3	chr3:119864581..119866968-chr3:119914610..119916835,2	MCF-7	breast:
4	chr3:119896267..119897823-chr3:119902121..119903746,2	MCF-7	breast:
5	chr3:119539565..119540086-chr3:119901520..119902156,2	MCF-7	breast:
6	chr3:119832637..119834179-chr3:119912112..119915097,2	MCF-7	breast:
7	chr3:119610911..119611488-chr3:119916622..119917309,2	MCF-7	breast:
8	chr3:119913264..119914837-chr3:119917896..119920108,2	K562	blood:
9	chr3:119917539..119919805-chr3:119921736..119924200,3	MCF-7	breast:
10	chr3:119539576..119540526-chr3:119901251..119902442,9	MCF-7	breast:
11	chr3:119811197..119816198-chr3:119916960..119920972,9	MCF-7	breast:
12	chr3:119913264..119914837-chr3:119917896..119920108,2	K562	blood:
13	chr3:119816888..119819583-chr3:119917638..119919426,2	MCF-7	breast:
14	chr3:119856245..119857039-chr3:119901270..119902216,3	MCF-7	breast:
15	chr3:119917415..119920051-chr3:119920342..119921953,2	MCF-7	breast:
16	chr3:119527283..119529245-chr3:119900596..119902132,2	MCF-7	breast:
17	chr3:119809943..119817218-chr3:119893934..119905581,30	MCF-7	breast:
18	chr3:119814363..119814891-chr3:119901625..119902317,2	Hela-S3	cervix:
19	chr3:119878912..119881945-chr3:119899697..119902370,3	MCF-7	breast:
20	chr3:119610502..119611380-chr3:119901494..119902513,3	MCF-7	breast:
21	chr3:119856115..119856652-chr3:119901410..119902399,3	MCF-7	breast:
22	chr3:119811331..119815530-chr3:119909646..119912126,4	MCF-7	breast:
23	chr3:119812584..119816190-chr3:119909415..119914379,6	MCF-7	breast:
24	chr3:119905802..119907944-chr3:119913665..119916564,2	MCF-7	breast:
25	chr3:119813885..119816034-chr3:119913009..119915303,2	MCF-7	breast:
26	chr3:119810057..119817149-chr3:119894256..119903865,22	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000242622	chromatin interactions
ENSG00000082701	chromatin interactions

Extended variants
information (count: 636 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:636 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9835042	chr3:119901774-119901775	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs116306246	chr3:119901779-119901780	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs13088757	chr3:119901802-119901803	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs73177943	chr3:119901811-119901812	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs532524350	chr3:119901819-119901820	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs552295734	chr3:119901870-119901871	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs570021619	chr3:119901874-119901875	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs569290384	chr3:119901937-119901938	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs187729311	chr3:119901968-119901969	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs555139961	chr3:119902027-119902028	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs568587074	chr3:119902069-119902070	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs189902531	chr3:119902150-119902151	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs73856411	chr3:119902179-119902180	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs578079145	chr3:119902222-119902223	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs372017812	chr3:119902264-119902265	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs114113970	chr3:119902267-119902268	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs530252056	chr3:119902288-119902289	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs558310168	chr3:119902298-119902299	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs375018992	chr3:119902305-119902306	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs544004008	chr3:119902330-119902331	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs572030702	chr3:119902333-119902334	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs554578909	chr3:119902340-119902341	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs540456260	chr3:119902367-119902368	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs113789321	chr3:119902461-119902462	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs150701194	chr3:119902485-119902486	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs574336948	chr3:119902625-119902626	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs139973735	chr3:119902630-119902631	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs552532292	chr3:119902678-119902679	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs57776240	chr3:119902730-119902731	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs531807592	chr3:119902746-119902747	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs554541480	chr3:119902750-119902751	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs144869497	chr3:119902816-119902817	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs182127016	chr3:119902823-119902824	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs534098972	chr3:119902826-119902827	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs554017529	chr3:119902832-119902833	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs187143089	chr3:119902931-119902932	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs147918353	chr3:119902933-119902934	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs9844508	chr3:119902960-119902961	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs112831724	chr3:119902994-119902995	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs199885490	chr3:119902996-119902997	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs397741566	chr3:119903007-119903008	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs71619767	chr3:119903035-119903036	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs558505024	chr3:119903050-119903051	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs575166840	chr3:119903052-119903053	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs375700562	chr3:119903054-119903055	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs543388657	chr3:119903086-119903087	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs563137725	chr3:119903126-119903127	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs369971259	chr3:119903152-119903153	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs192941572	chr3:119903164-119903165	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs139991558	chr3:119903182-119903183	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119892400-119914200	Weak transcription	Fetal Brain Female	brain
2	chr3:119896400-119921400	Weak transcription	Ovary	ovary
3	chr3:119897000-119902000	Weak transcription	NHLF	lung
4	chr3:119897000-119906000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:119897000-119913200	Weak transcription	Fetal Stomach	stomach
6	chr3:119897000-119921400	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:119897200-119901800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:119897200-119914800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:119897400-119908000	Weak transcription	Placenta	Placenta
10	chr3:119899000-119902200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:119899200-119902400	Enhancers	NHEK	skin
12	chr3:119899600-119902400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:119899600-119902400	Enhancers	HMEC	breast
14	chr3:119900200-119901800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr3:119900800-119915600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:119901400-119901800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:119901400-119902400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:119901400-119902600	Enhancers	A549	lung
19	chr3:119901600-119902000	Enhancers	NH-A	brain
20	chr3:119901600-119902200	Enhancers	HSMMtube	muscle
21	chr3:119901600-119902400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:119901600-119902400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr3:119901600-119902400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:119901600-119902400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:119901600-119902400	Enhancers	HUVEC	blood vessel
26	chr3:119901600-119902400	Enhancers	NHDF-Ad	bronchial
27	chr3:119901600-119902400	Enhancers	Osteobl	bone
28	chr3:119901600-119902600	Enhancers	Hela-S3	cervix
29	chr3:119901600-119902600	Enhancers	HSMM	muscle
30	chr3:119901600-119902800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:119901600-119902800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:119901800-119902000	Enhancers	Psoas Muscle	Psoas
33	chr3:119901800-119902200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr3:119901800-119902400	Enhancers	Placenta Amnion	Placenta Amnion
35	chr3:119902000-119902400	Enhancers	NHLF	lung
36	chr3:119905200-119905800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr3:119906000-119906800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr3:119910600-119911800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:119910600-119911800	Enhancers	HSMMtube	muscle
40	chr3:119910800-119911800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:119910800-119912000	Enhancers	HSMM	muscle
42	chr3:119911000-119911800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:119911200-119911800	Enhancers	NHDF-Ad	bronchial
44	chr3:119911400-119912000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:119911600-119912000	Enhancers	Spleen	Spleen
46	chr3:119911800-119914600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:119911800-119921400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr3:119912000-119917000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:119912200-119913000	Enhancers	Fetal Intestine Large	intestine
50	chr3:119914400-119916000	Enhancers	NHEK	skin

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