Variant report

Variant	esv3395096
Chromosome Location	chr3:113187762-113188960
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	chr3:113184639..113186627-chr3:113186960..113188718,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372580023	chr3:113187797-113187798	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150425011	chr3:113187810-113187811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531928401	chr3:113187824-113187825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113494370	chr3:113187831-113187832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375085068	chr3:113187894-113187895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201941327	chr3:113187910-113187911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530129108	chr3:113187924-113187925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200065308	chr3:113187929-113187930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs137959228	chr3:113187968-113187969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181062542	chr3:113187979-113187980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148983792	chr3:113187981-113187982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377166323	chr3:113187988-113187989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370802462	chr3:113188011-113188012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534002620	chr3:113188013-113188014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558422433	chr3:113188014-113188015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13059371	chr3:113188061-113188062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143757797	chr3:113188076-113188077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148179257	chr3:113188086-113188087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539465381	chr3:113188090-113188091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183966826	chr3:113188181-113188182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200639011	chr3:113188193-113188194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556473146	chr3:113188222-113188223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574906048	chr3:113188260-113188261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541821946	chr3:113188276-113188277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533100492	chr3:113188305-113188306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188326067	chr3:113188318-113188319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138241049	chr3:113188409-113188410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546275218	chr3:113188424-113188425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573188276	chr3:113188443-113188444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148876041	chr3:113188448-113188449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531773981	chr3:113188685-113188686	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78085492	chr3:113188726-113188727	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75439673	chr3:113188736-113188737	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529708926	chr3:113188793-113188794	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12488964	chr3:113188805-113188806	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs9848087	chr3:113188852-113188853	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs9814395	chr3:113188885-113188886	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs180775015	chr3:113188887-113188888	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570684402	chr3:113188905-113188906	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117034664	chr3:113188924-113188925	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187606345	chr3:113188942-113188943	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	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:166 , 50 per page) page: 1 2 3 4

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	chr3:113160400-113188800	Weak transcription	Colonic Mucosa	Colon
4	chr3:113160400-113191200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:113160400-113192800	Weak transcription	Stomach Mucosa	stomach
6	chr3:113160600-113188600	Weak transcription	Psoas Muscle	Psoas
7	chr3:113160600-113190600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:113160600-113203800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:113160800-113189400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:113160800-113189400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:113160800-113189600	Weak transcription	NHEK	skin
12	chr3:113160800-113203800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:113160800-113203800	Weak transcription	Aorta	Aorta
14	chr3:113160800-113224800	Weak transcription	Placenta	Placenta
15	chr3:113160800-113232600	Weak transcription	Right Ventricle	heart
16	chr3:113161000-113189600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr3:113161000-113189600	Weak transcription	Brain Substantia Nigra	brain
18	chr3:113161000-113190800	Weak transcription	K562	blood
19	chr3:113161400-113192200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:113166200-113188800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:113166600-113203800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr3:113169800-113191600	Weak transcription	Fetal Brain Male	brain
23	chr3:113172600-113203800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr3:113172800-113232800	Weak transcription	HSMMtube	muscle
25	chr3:113173800-113190200	Weak transcription	Fetal Heart	heart
26	chr3:113174600-113190200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr3:113175000-113190600	Weak transcription	Brain Germinal Matrix	brain
28	chr3:113176400-113233200	Weak transcription	Gastric	stomach
29	chr3:113177400-113225800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr3:113177600-113224400	Weak transcription	Spleen	Spleen
31	chr3:113179600-113188200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr3:113179600-113189600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr3:113179600-113191200	Weak transcription	Brain Angular Gyrus	brain
34	chr3:113179600-113192200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr3:113179600-113192600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:113179600-113204000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr3:113179600-113215200	Weak transcription	HMEC	breast
38	chr3:113179600-113217200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr3:113179600-113232400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr3:113179600-113232800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:113180800-113189800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr3:113181000-113187800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr3:113181000-113189000	Strong transcription	Fetal Intestine Large	intestine
44	chr3:113182000-113188800	Weak transcription	Brain Anterior Caudate	brain
45	chr3:113182000-113191400	Weak transcription	Fetal Muscle Leg	muscle
46	chr3:113182000-113203800	Weak transcription	Esophagus	oesophagus
47	chr3:113182000-113203800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr3:113183400-113189000	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr3:113183800-113188600	Weak transcription	Primary B cells from cord blood	blood
50	chr3:113184000-113190000	Weak transcription	Fetal Stomach	stomach

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