Variant report

Variant	nsv966954
Chromosome Location	chr3:121619455-121627534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 322 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57636696	chr3:121619464-121619465	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575326882	chr3:121619482-121619483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544348401	chr3:121619601-121619602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553778752	chr3:121619625-121619626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2332055	chr3:121619652-121619653	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs186719657	chr3:121619675-121619676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4305455	chr3:121619774-121619775	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs111647767	chr3:121619839-121619840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1920300	chr3:121619917-121619918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144276698	chr3:121619942-121619943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564919467	chr3:121619968-121619969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4465981	chr3:121619996-121619997	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs550684269	chr3:121620000-121620001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560835622	chr3:121620026-121620027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112863925	chr3:121620125-121620126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369205299	chr3:121620142-121620143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546882075	chr3:121620160-121620161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2332054	chr3:121620211-121620212	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs142109590	chr3:121620214-121620215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576159296	chr3:121620224-121620225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191610468	chr3:121620271-121620272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568941331	chr3:121620325-121620326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376393394	chr3:121620384-121620385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537940889	chr3:121620391-121620392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370060089	chr3:121620426-121620427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184886213	chr3:121620442-121620443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2178415	chr3:121620449-121620450	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs376823888	chr3:121620455-121620456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536404627	chr3:121620463-121620464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558667740	chr3:121620525-121620526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553242866	chr3:121620548-121620549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573171112	chr3:121620564-121620565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572191928	chr3:121620622-121620623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545349775	chr3:121620630-121620631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs3047583	chr3:121620692-121620693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369990938	chr3:121620693-121620694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34273335	chr3:121620702-121620703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs36038750	chr3:121620713-121620714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200053272	chr3:121620715-121620716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146371065	chr3:121620728-121620729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369839076	chr3:121620735-121620736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190416064	chr3:121620742-121620743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541055075	chr3:121620744-121620745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193014316	chr3:121620751-121620752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139734461	chr3:121620770-121620771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2141615	chr3:121620787-121620788	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs547164249	chr3:121620792-121620793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149656357	chr3:121620794-121620795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560363490	chr3:121620816-121620817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185244975	chr3:121620820-121620821	Weak transcription Strong transcription	n/a	n/a	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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121592800-121646800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr3:121593000-121632400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr3:121610600-121621800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr3:121613000-121620600	Strong transcription	Primary B cells from cord blood	blood
5	chr3:121613000-121621800	Strong transcription	Primary B cells from peripheral blood	blood
6	chr3:121613000-121622000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr3:121613400-121622000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:121613400-121626400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:121613800-121647200	Weak transcription	Left Ventricle	heart
10	chr3:121614000-121632800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr3:121614000-121633200	Weak transcription	Fetal Kidney	kidney
12	chr3:121614000-121637800	Weak transcription	Spleen	Spleen
13	chr3:121614200-121631600	Weak transcription	Brain Anterior Caudate	brain
14	chr3:121614200-121634400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:121615000-121626600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr3:121615000-121632000	Weak transcription	Brain Hippocampus Middle	brain
17	chr3:121615200-121626800	Weak transcription	Fetal Muscle Leg	muscle
18	chr3:121615600-121621000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:121615600-121633200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr3:121615800-121619800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:121615800-121671600	Weak transcription	Pancreas	Pancrea
22	chr3:121616200-121637600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:121616200-121659400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:121616400-121626600	Weak transcription	Primary T cells from cord blood	blood
25	chr3:121618400-121621000	Strong transcription	GM12878-XiMat	blood
26	chr3:121618800-121621000	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr3:121619000-121619600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr3:121619400-121621400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr3:121619600-121620000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr3:121619800-121620600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr3:121620000-121622000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr3:121620400-121626200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:121620600-121621000	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr3:121620600-121626000	Weak transcription	Primary B cells from cord blood	blood
35	chr3:121621000-121626400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr3:121621000-121626400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr3:121621000-121626600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:121621000-121628200	Weak transcription	GM12878-XiMat	blood
39	chr3:121621200-121626800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr3:121621400-121622000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
41	chr3:121621800-121626200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr3:121621800-121626200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr3:121622000-121624800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:121622000-121626200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr3:121622000-121626400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr3:121622000-121626600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr3:121623400-121639200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr3:121624000-121647800	Weak transcription	Adipose Nuclei	Adipose
49	chr3:121624800-121626200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:121625000-121661200	Weak transcription	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links