Variant report

Variant	esv3386427
Chromosome Location	chr3:119606574-119606923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119605247..119607921-chr3:119609001..119610890,2	MCF-7	breast:
2	chr3:119606881..119610078-chr3:119812619..119816185,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242622	chromatin interactions
ENSG00000082701	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529983244	chr3:119606595-119606596	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550029381	chr3:119606596-119606597	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533176407	chr3:119606616-119606617	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561238851	chr3:119606635-119606636	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150289629	chr3:119606667-119606668	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546704010	chr3:119606699-119606700	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571599726	chr3:119606729-119606730	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185222660	chr3:119606758-119606759	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550890548	chr3:119606797-119606798	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565041065	chr3:119606816-119606817	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370618529	chr3:119606818-119606819	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73175849	chr3:119606829-119606830	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs569786778	chr3:119606837-119606838	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560620768	chr3:119606900-119606901	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs540962627	chr3:119606915-119606916	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119546000-119663400	Weak transcription	Lung	lung
2	chr3:119562400-119611000	Weak transcription	Fetal Stomach	stomach
3	chr3:119569400-119629400	Weak transcription	Esophagus	oesophagus
4	chr3:119574600-119631600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:119577600-119607600	Weak transcription	Aorta	Aorta
6	chr3:119577800-119607600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:119582400-119607400	Weak transcription	Ovary	ovary
8	chr3:119582400-119607600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr3:119582400-119607600	Weak transcription	Fetal Brain Female	brain
10	chr3:119582400-119607600	Weak transcription	Thymus	Thymus
11	chr3:119582400-119607800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr3:119582400-119610600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr3:119582400-119610600	Weak transcription	Colon Smooth Muscle	Colon
14	chr3:119582400-119611000	Weak transcription	Brain Anterior Caudate	brain
15	chr3:119582400-119611000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr3:119582400-119611000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:119582400-119611000	Weak transcription	HUVEC	blood vessel
18	chr3:119582400-119624000	Weak transcription	Brain Germinal Matrix	brain
19	chr3:119582400-119626600	Weak transcription	Fetal Heart	heart
20	chr3:119582400-119629400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:119582600-119607600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:119582600-119607800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:119582600-119609800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr3:119582600-119610600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr3:119582600-119611000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr3:119582600-119611000	Weak transcription	NHLF	lung
27	chr3:119582600-119627200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr3:119582600-119627400	Weak transcription	Right Ventricle	heart
29	chr3:119582800-119607800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:119582800-119621200	Weak transcription	Fetal Intestine Large	intestine
31	chr3:119583000-119611000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr3:119583600-119608000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr3:119583600-119621400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:119583800-119630400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr3:119584000-119622800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr3:119585600-119607800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:119592600-119617800	Weak transcription	Osteobl	bone
38	chr3:119594800-119610800	Weak transcription	Stomach Mucosa	stomach
39	chr3:119595800-119607600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr3:119595800-119607800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr3:119596000-119607000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr3:119596000-119607800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr3:119597600-119659000	Weak transcription	Gastric	stomach
44	chr3:119598200-119610000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:119599000-119607600	Weak transcription	Left Ventricle	heart
46	chr3:119599200-119607800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:119599800-119607800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:119599800-119611000	Weak transcription	Fetal Kidney	kidney
49	chr3:119599800-119611000	Weak transcription	NH-A	brain
50	chr3:119600000-119606800	Weak transcription	Primary hematopoietic stem cells	blood

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