Variant report

Variant	esv3413713
Chromosome Location	chr3:113185255-113185783
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	chr3:113184124..113185846-chr3:113185911..113187476,2	MCF-7	breast:
2	chr3:113184639..113186627-chr3:113186960..113188718,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148240912	chr3:113185286-113185287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6805691	chr3:113185303-113185304	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150795836	chr3:113185319-113185320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534995317	chr3:113185362-113185363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138114238	chr3:113185365-113185366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571679416	chr3:113185385-113185386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142669226	chr3:113185395-113185396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557542590	chr3:113185397-113185398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575905324	chr3:113185409-113185410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543383801	chr3:113185442-113185443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555287606	chr3:113185445-113185446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373217159	chr3:113185455-113185456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540786121	chr3:113185456-113185457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573586217	chr3:113185470-113185471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540994829	chr3:113185498-113185499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559202042	chr3:113185502-113185503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145928187	chr3:113185619-113185620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7649529	chr3:113185630-113185631	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs563180781	chr3:113185635-113185636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116924516	chr3:113185715-113185716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571708871	chr3:113185766-113185767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62265996	chr3:113185770-113185771	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

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
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	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
Neurodevelopmental disorder	22521361	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
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Breast cancer	17142309	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	22174824	CNVD
Ductal carcinoma	22052326	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113146000-113191000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr3:113160200-113190000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:113160400-113186800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:113160400-113188800	Weak transcription	Colonic Mucosa	Colon
5	chr3:113160400-113191200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:113160400-113192800	Weak transcription	Stomach Mucosa	stomach
7	chr3:113160600-113188600	Weak transcription	Psoas Muscle	Psoas
8	chr3:113160600-113190600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:113160600-113203800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:113160800-113187000	Weak transcription	HUVEC	blood vessel
11	chr3:113160800-113187600	Weak transcription	NHLF	lung
12	chr3:113160800-113189400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:113160800-113189400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr3:113160800-113189600	Weak transcription	NHEK	skin
15	chr3:113160800-113203800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:113160800-113203800	Weak transcription	Aorta	Aorta
17	chr3:113160800-113224800	Weak transcription	Placenta	Placenta
18	chr3:113160800-113232600	Weak transcription	Right Ventricle	heart
19	chr3:113161000-113189600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr3:113161000-113189600	Weak transcription	Brain Substantia Nigra	brain
21	chr3:113161000-113190800	Weak transcription	K562	blood
22	chr3:113161400-113192200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:113164000-113185600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr3:113166200-113188800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr3:113166600-113186400	Weak transcription	A549	lung
26	chr3:113166600-113203800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr3:113169000-113186600	Weak transcription	Small Intestine	intestine
28	chr3:113169800-113191600	Weak transcription	Fetal Brain Male	brain
29	chr3:113172600-113187000	Weak transcription	Brain Hippocampus Middle	brain
30	chr3:113172600-113203800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr3:113172800-113232800	Weak transcription	HSMMtube	muscle
32	chr3:113173200-113187000	Weak transcription	Colon Smooth Muscle	Colon
33	chr3:113173800-113190200	Weak transcription	Fetal Heart	heart
34	chr3:113174600-113190200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr3:113175000-113190600	Weak transcription	Brain Germinal Matrix	brain
36	chr3:113176200-113186600	Weak transcription	Osteobl	bone
37	chr3:113176400-113233200	Weak transcription	Gastric	stomach
38	chr3:113177000-113186200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr3:113177400-113225800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr3:113177600-113224400	Weak transcription	Spleen	Spleen
41	chr3:113177800-113187000	Weak transcription	Lung	lung
42	chr3:113179400-113186400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr3:113179400-113186800	Weak transcription	GM12878-XiMat	blood
44	chr3:113179400-113187400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr3:113179600-113186200	Weak transcription	HepG2	liver
46	chr3:113179600-113186400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr3:113179600-113186400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr3:113179600-113186400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr3:113179600-113186600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr3:113179600-113186800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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