Variant report

Variant	esv3462400
Chromosome Location	chr3:121640167-121640655
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	chr3:121633080..121634996-chr3:121639637..121641461,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163406	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 56 )

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	rs9871534	chr3:121640177-121640178	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551381146	chr3:121640205-121640206	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs527792726	chr3:121640232-121640233	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs547843460	chr3:121640238-121640239	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555960827	chr3:121640282-121640283	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs9816071	chr3:121640318-121640319	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs571271617	chr3:121640324-121640325	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs12496036	chr3:121640362-121640363	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs568608308	chr3:121640372-121640373	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs9816215	chr3:121640426-121640427	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs75687062	chr3:121640498-121640499	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs180880499	chr3:121640521-121640522	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs572396937	chr3:121640593-121640594	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551240304	chr3:121640603-121640604	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs568592806	chr3:121640624-121640625	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121592800-121646800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr3:121613800-121647200	Weak transcription	Left Ventricle	heart
3	chr3:121615800-121671600	Weak transcription	Pancreas	Pancrea
4	chr3:121616200-121659400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:121624000-121647800	Weak transcription	Adipose Nuclei	Adipose
6	chr3:121625000-121661200	Weak transcription	Thymus	Thymus
7	chr3:121625200-121640400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:121626200-121651600	Strong transcription	Primary B cells from peripheral blood	blood
9	chr3:121627400-121641600	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:121627400-121659200	Weak transcription	Lung	lung
11	chr3:121627400-121664600	Weak transcription	Aorta	Aorta
12	chr3:121627600-121645200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr3:121627600-121659200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:121628200-121659200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr3:121629800-121651400	Strong transcription	Primary B cells from cord blood	blood
16	chr3:121630200-121652200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr3:121630400-121649600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr3:121631800-121664800	Weak transcription	Brain Angular Gyrus	brain
19	chr3:121633200-121661200	Weak transcription	Liver	Liver
20	chr3:121633400-121642800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:121633400-121645200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:121633400-121646200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:121633600-121649000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr3:121633800-121661200	Weak transcription	Right Ventricle	heart
25	chr3:121634000-121651400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr3:121634000-121651600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr3:121634000-121660400	Weak transcription	Fetal Kidney	kidney
28	chr3:121634600-121646200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr3:121634600-121647000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr3:121634800-121649600	Weak transcription	Brain Anterior Caudate	brain
31	chr3:121634800-121667000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr3:121635000-121670600	Weak transcription	Brain Hippocampus Middle	brain
33	chr3:121635200-121666800	Weak transcription	Brain Substantia Nigra	brain
34	chr3:121635400-121647800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr3:121635600-121640600	Weak transcription	Primary T cells from cord blood	blood
36	chr3:121636000-121643400	Weak transcription	Fetal Intestine Small	intestine
37	chr3:121636400-121645400	Strong transcription	Primary hematopoietic stem cells	blood
38	chr3:121636800-121644000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr3:121638200-121640200	Weak transcription	GM12878-XiMat	blood
40	chr3:121638200-121645200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr3:121638400-121641000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr3:121638400-121664800	Weak transcription	Spleen	Spleen
43	chr3:121638600-121661000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:121638800-121640800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr3:121638800-121661000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:121640200-121648800	Strong transcription	GM12878-XiMat	blood
47	chr3:121640600-121642200	Strong transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links