Variant report

Variant	esv3424998
Chromosome Location	chr3:119890522-119890933
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119888337..119890858-chr3:119891647..119894832,5	MCF-7	breast:
2	chr3:119811321..119815437-chr3:119887238..119891326,6	MCF-7	breast:
3	chr3:119811496..119816423-chr3:119884642..119891818,9	MCF-7	breast:
4	chr3:119887283..119893170-chr3:119894592..119900399,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082701	chromatin interactions
ENSG00000242622	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371502925	chr3:119890556-119890557	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs377650449	chr3:119890609-119890610	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs190178748	chr3:119890648-119890649	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs182543438	chr3:119890657-119890658	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs187587598	chr3:119890682-119890683	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs191955131	chr3:119890711-119890712	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs183914417	chr3:119890718-119890719	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs149152689	chr3:119890721-119890722	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs376082079	chr3:119890749-119890750	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs111405106	chr3:119890776-119890777	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs376636432	chr3:119890777-119890778	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs555208924	chr3:119890778-119890779	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs534281668	chr3:119890782-119890783	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs62264965	chr3:119890800-119890801	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs528755858	chr3:119890838-119890839	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs189053838	chr3:119890847-119890848	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs35999304	chr3:119890863-119890864	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs10629335	chr3:119890864-119890865	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs10663736	chr3:119890873-119890874	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs7653263	chr3:119890883-119890884	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs539618067	chr3:119890890-119890891	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs35388346	chr3:119890894-119890895	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs11456826	chr3:119890917-119890918	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs397709081	chr3:119890923-119890924	Weak transcription Enhancers Strong 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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119875200-119896000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:119883200-119895800	Weak transcription	Fetal Intestine Small	intestine
3	chr3:119884800-119895600	Weak transcription	Brain Germinal Matrix	brain
4	chr3:119885000-119895800	Weak transcription	Fetal Lung	lung
5	chr3:119886200-119892400	Strong transcription	Fetal Brain Female	brain
6	chr3:119887200-119895800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:119887800-119891400	Enhancers	NHEK	skin
8	chr3:119888000-119891400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:119888000-119891400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:119888200-119891200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:119888200-119891200	Enhancers	HMEC	breast
12	chr3:119888400-119890600	Enhancers	Hela-S3	cervix
13	chr3:119888400-119892600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:119888400-119895800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:119888400-119895800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:119888400-119896200	Enhancers	NHDF-Ad	bronchial
17	chr3:119888600-119891600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:119888600-119892200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:119888600-119892600	Enhancers	Osteobl	bone
20	chr3:119888600-119893200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:119888600-119896000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr3:119888800-119891400	Enhancers	NHLF	lung
23	chr3:119889400-119891200	Enhancers	Fetal Muscle Leg	muscle
24	chr3:119889400-119893600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:119889600-119890800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr3:119890000-119891400	Enhancers	Lung	lung
27	chr3:119890000-119892000	Weak transcription	HSMM	muscle
28	chr3:119890000-119893000	Weak transcription	A549	lung
29	chr3:119890000-119895800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr3:119890200-119890600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:119890200-119890600	Enhancers	Rectal Smooth Muscle	rectum
32	chr3:119890200-119890600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr3:119890200-119891000	Enhancers	Colon Smooth Muscle	Colon
34	chr3:119890200-119891400	Enhancers	Fetal Thymus	thymus
35	chr3:119890200-119892200	Strong transcription	Fetal Stomach	stomach
36	chr3:119890400-119891200	Enhancers	Adipose Nuclei	Adipose
37	chr3:119890400-119891400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:119890400-119891400	Weak transcription	Esophagus	oesophagus
39	chr3:119890400-119892000	Weak transcription	HSMMtube	muscle
40	chr3:119890400-119893600	Weak transcription	Placenta	Placenta
41	chr3:119890400-119895400	Weak transcription	Psoas Muscle	Psoas
42	chr3:119890400-119895800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr3:119890400-119895800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr3:119890600-119892200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:119890600-119893600	Weak transcription	Hela-S3	cervix
46	chr3:119890600-119895600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr3:119890600-119895800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr3:119890800-119895600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr3:119890800-119896000	Weak transcription	Right Atrium	heart

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