Variant report

Variant	nsv963531
Chromosome Location	chr3:110844919-110856568
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:110850049..110852272-chr3:110854262..110855998,2	K562	blood:
2	chr3:110850049..110852272-chr3:110854262..110855998,2	K562	blood:
3	chr3:110850483..110852272-chr3:110853900..110855998,2	K562	blood:
4	chr3:110850483..110852272-chr3:110853900..110855998,2	K562	blood:
5	chr3:110856185..110858816-chr3:110868086..110870660,2	MCF-7	breast:

Extended variants
information (count: 399 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188762375	chr3:110844929-110844930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369456097	chr3:110844995-110844996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373697226	chr3:110844999-110845000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372984600	chr3:110845043-110845044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377107814	chr3:110845051-110845052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143896077	chr3:110845070-110845071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200130886	chr3:110845105-110845106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370802857	chr3:110845163-110845164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556409171	chr3:110845167-110845168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73854908	chr3:110845220-110845221	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577753434	chr3:110845233-110845234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145899876	chr3:110845284-110845285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540083704	chr3:110845288-110845289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112704998	chr3:110845344-110845345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79199268	chr3:110845363-110845364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4682233	chr3:110845394-110845395	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs368082668	chr3:110845417-110845418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529233803	chr3:110845440-110845441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115910062	chr3:110845513-110845514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76464851	chr3:110845612-110845613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531861446	chr3:110845674-110845675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551957281	chr3:110845699-110845700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571863437	chr3:110845737-110845738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570472548	chr3:110845808-110845809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533924461	chr3:110845827-110845828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547495908	chr3:110845928-110845929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567306602	chr3:110845972-110845973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138503072	chr3:110846046-110846047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572939559	chr3:110846060-110846061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555859583	chr3:110846124-110846125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149560400	chr3:110846171-110846172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538517777	chr3:110846223-110846224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558376040	chr3:110846227-110846228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114917935	chr3:110846228-110846229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540361945	chr3:110846255-110846256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560228944	chr3:110846257-110846258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574019172	chr3:110846258-110846259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199909230	chr3:110846312-110846313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35153084	chr3:110846313-110846314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397874014	chr3:110846331-110846332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543008028	chr3:110846431-110846432	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144252335	chr3:110846458-110846459	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532070383	chr3:110846493-110846494	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551785547	chr3:110846504-110846505	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565509613	chr3:110846505-110846506	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148738037	chr3:110846515-110846516	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559939377	chr3:110846517-110846518	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547977675	chr3:110846565-110846566	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111504165	chr3:110846600-110846601	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568087208	chr3:110846615-110846616	Weak transcription Strong transcription Genic enhancers	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
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
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110816000-110873800	Weak transcription	Left Ventricle	heart
2	chr3:110816000-110893400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:110817400-110855200	Weak transcription	Pancreas	Pancrea
4	chr3:110819200-110857200	Weak transcription	NHLF	lung
5	chr3:110826600-110845000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:110826800-110847600	Weak transcription	A549	lung
7	chr3:110826800-110884200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:110827000-110847400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr3:110827800-110849200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:110828000-110851400	Weak transcription	Aorta	Aorta
11	chr3:110829400-110893400	Weak transcription	HUVEC	blood vessel
12	chr3:110830400-110852800	Weak transcription	NH-A	brain
13	chr3:110830600-110854200	Weak transcription	Right Ventricle	heart
14	chr3:110830800-110852400	Weak transcription	Fetal Brain Male	brain
15	chr3:110830800-110853800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr3:110832000-110854600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:110832000-110854600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr3:110832000-110856600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr3:110832200-110847200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:110832200-110852400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:110832200-110853600	Weak transcription	HSMMtube	muscle
22	chr3:110832200-110881800	Weak transcription	Small Intestine	intestine
23	chr3:110832200-110892400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:110832400-110911200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr3:110832800-110852400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:110833000-110845000	Weak transcription	Fetal Kidney	kidney
27	chr3:110833600-110855400	Weak transcription	Colon Smooth Muscle	Colon
28	chr3:110834000-110891800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr3:110834400-110852400	Weak transcription	Ovary	ovary
30	chr3:110835600-110929600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:110836200-110846200	Weak transcription	Osteobl	bone
32	chr3:110836200-110848400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:110836200-110872800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr3:110836800-110845000	Weak transcription	Liver	Liver
35	chr3:110837200-110854400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr3:110837400-110846400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr3:110838200-110845000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr3:110838200-110846400	Weak transcription	Fetal Intestine Small	intestine
39	chr3:110838200-110847200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr3:110838200-110847600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:110838200-110847800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:110838200-110848600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:110838400-110845000	Weak transcription	Fetal Lung	lung
44	chr3:110838400-110846200	Weak transcription	Fetal Muscle Leg	muscle
45	chr3:110838400-110846400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:110838400-110846400	Weak transcription	Fetal Stomach	stomach
47	chr3:110838400-110847600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr3:110838400-110880200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:110840200-110848000	Strong transcription	Dnd41	blood
50	chr3:110840600-110846000	Strong transcription	NHDF-Ad	bronchial

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