Variant report

Variant	nsv933417
Chromosome Location	chr3:121500590-121500963
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	chr3:121498622..121501358-chr3:121516478..121520165,3	K562	blood:
2	chr3:121498095..121500834-chr3:121519561..121521853,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147708058	chr3:121500607-121500608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs121918244	chr3:121500619-121500620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374241434	chr3:121500640-121500641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201474218	chr3:121500654-121500655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377265463	chr3:121500666-121500667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377629008	chr3:121500680-121500681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142536967	chr3:121500689-121500690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146832128	chr3:121500696-121500697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11920543	chr3:121500697-121500698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17849995	chr3:121500699-121500700	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs150129899	chr3:121500705-121500706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201319850	chr3:121500719-121500720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138646990	chr3:121500720-121500721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535158012	chr3:121500765-121500766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113766234	chr3:121500810-121500811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185604327	chr3:121500820-121500821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576630505	chr3:121500838-121500839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566640978	chr3:121500880-121500881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539307198	chr3:121500923-121500924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556054265	chr3:121500929-121500930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575604959	chr3:121500932-121500933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121485600-121503200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:121485800-121501000	Strong transcription	Duodenum Mucosa	Duodenum
3	chr3:121486200-121526600	Weak transcription	Stomach Mucosa	stomach
4	chr3:121486800-121532200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:121487000-121509000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:121487200-121501600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr3:121487400-121501400	Strong transcription	Primary T cells from cord blood	blood
8	chr3:121487400-121501400	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr3:121487400-121502000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:121487400-121503000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:121487400-121512200	Strong transcription	Fetal Thymus	thymus
12	chr3:121487400-121512400	Strong transcription	Dnd41	blood
13	chr3:121487800-121509000	Strong transcription	Fetal Intestine Large	intestine
14	chr3:121487800-121516400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:121487800-121519000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr3:121488000-121507200	Weak transcription	Brain Substantia Nigra	brain
17	chr3:121488000-121511000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr3:121488000-121512200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:121488000-121512600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:121488200-121501800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:121488400-121505600	Weak transcription	Fetal Heart	heart
22	chr3:121488400-121509600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr3:121488600-121501000	Strong transcription	Liver	Liver
24	chr3:121488600-121502000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr3:121488600-121509000	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr3:121488600-121510200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr3:121488600-121517800	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr3:121489000-121502800	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr3:121489000-121509200	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr3:121489200-121500600	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr3:121489200-121501400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr3:121489600-121507000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr3:121489800-121506200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:121489800-121506400	Weak transcription	Gastric	stomach
35	chr3:121489800-121508000	Weak transcription	Esophagus	oesophagus
36	chr3:121489800-121508800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr3:121489800-121510600	Weak transcription	Spleen	Spleen
38	chr3:121489800-121514800	Weak transcription	Small Intestine	intestine
39	chr3:121489800-121529800	Weak transcription	Aorta	Aorta
40	chr3:121490000-121529800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:121490000-121529800	Weak transcription	Pancreas	Pancrea
42	chr3:121490400-121501000	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr3:121491600-121506600	Weak transcription	NHDF-Ad	bronchial
44	chr3:121491600-121507000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:121491600-121552600	Weak transcription	NHLF	lung
46	chr3:121492800-121501600	Strong transcription	GM12878-XiMat	blood
47	chr3:121493200-121501400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr3:121493200-121502400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:121494000-121501200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr3:121494200-121504800	Weak transcription	Brain Germinal Matrix	brain

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