Variant report

Variant	nsv441844
Chromosome Location	chr3:155481096-155492177
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:155481429..155485286-chr3:155486373..155491702,5	K562	blood:
2	chr3:155489353..155491545-chr3:155498387..155500105,2	MCF-7	breast:
3	chr3:155491839..155493601-chr3:155495108..155496890,2	K562	blood:
4	chr3:155479593..155481988-chr3:155483221..155485642,3	K562	blood:
5	chr3:155371134..155373846-chr3:155480180..155482982,2	K562	blood:
6	chr3:155489809..155491892-chr3:155496902..155499266,2	K562	blood:
7	chr3:155480147..155483683-chr3:155487368..155490043,3	K562	blood:
8	chr3:155479593..155481988-chr3:155483221..155485642,3	K562	blood:
9	chr3:155488449..155490862-chr3:155570678..155572291,2	MCF-7	breast:
10	chr3:155481429..155485286-chr3:155486373..155491702,5	K562	blood:
11	chr3:155480147..155483683-chr3:155487368..155490043,3	K562	blood:
12	chr3:155491831..155494360-chr3:155588180..155590433,3	K562	blood:
13	chr3:155483233..155486124-chr3:155587848..155589390,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163655	chromatin interactions
ENSG00000169359	chromatin interactions

Extended variants
information (count: 422 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6806798	chr3:155481097-155481098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532385852	chr3:155481146-155481147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568121677	chr3:155481160-155481161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140566454	chr3:155481168-155481169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565670305	chr3:155481213-155481214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536117537	chr3:155481245-155481246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144240790	chr3:155481287-155481288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569598290	chr3:155481302-155481303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536756378	chr3:155481303-155481304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200327612	chr3:155481319-155481320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200965203	chr3:155481320-155481321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368379240	chr3:155481329-155481330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199756382	chr3:155481330-155481331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376595804	chr3:155481331-155481332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191188831	chr3:155481368-155481369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576856906	chr3:155481395-155481396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113890115	chr3:155481440-155481441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376049300	chr3:155481447-155481448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201584610	chr3:155481454-155481455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571937562	chr3:155481483-155481484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559220741	chr3:155481495-155481496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575233706	chr3:155481571-155481572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7653384	chr3:155481609-155481610	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs267599663	chr3:155481684-155481685	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147770210	chr3:155481692-155481693	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115731681	chr3:155481693-155481694	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374247931	chr3:155481704-155481705	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527782923	chr3:155481805-155481806	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183654449	chr3:155482011-155482012	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528559793	chr3:155482028-155482029	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555880143	chr3:155482038-155482039	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574413422	chr3:155482045-155482046	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547613643	chr3:155482063-155482064	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567085194	chr3:155482064-155482065	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140222383	chr3:155482083-155482084	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186800622	chr3:155482144-155482145	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114167273	chr3:155482154-155482155	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541542527	chr3:155482210-155482211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559200902	chr3:155482230-155482231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569552524	chr3:155482277-155482278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72305331	chr3:155482321-155482322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150328317	chr3:155482332-155482333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551871650	chr3:155482342-155482343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144933703	chr3:155482363-155482364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534679349	chr3:155482368-155482369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149193257	chr3:155482413-155482414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62284737	chr3:155482415-155482416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575046901	chr3:155482418-155482419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145088528	chr3:155482420-155482421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565230610	chr3:155482477-155482478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Cancer	17440070	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155463800-155487800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:155463800-155501200	Weak transcription	Aorta	Aorta
3	chr3:155464200-155487600	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:155464200-155487600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:155464200-155487800	Weak transcription	Adipose Nuclei	Adipose
6	chr3:155464200-155487800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:155464200-155487800	Weak transcription	Pancreas	Pancrea
8	chr3:155464200-155489600	Weak transcription	Brain Anterior Caudate	brain
9	chr3:155464200-155490600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr3:155464600-155487800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:155466400-155484600	Weak transcription	Fetal Brain Male	brain
12	chr3:155467000-155487200	Weak transcription	Fetal Brain Female	brain
13	chr3:155467200-155500200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:155467200-155508000	Weak transcription	K562	blood
15	chr3:155467200-155508800	Weak transcription	Hela-S3	cervix
16	chr3:155467400-155481600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:155467400-155508400	Weak transcription	HepG2	liver
18	chr3:155468000-155487200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr3:155469400-155481600	Weak transcription	Liver	Liver
20	chr3:155470200-155483000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:155470400-155487400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr3:155470400-155487600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:155470800-155487400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:155471000-155481400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:155471000-155487400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:155471000-155487800	Weak transcription	Right Ventricle	heart
27	chr3:155471200-155487600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr3:155471400-155509000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr3:155471800-155487600	Weak transcription	Brain Angular Gyrus	brain
30	chr3:155472200-155487600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr3:155472400-155487200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:155472800-155488000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:155472800-155500000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr3:155473200-155487400	Weak transcription	Fetal Muscle Leg	muscle
35	chr3:155473200-155487400	Weak transcription	Thymus	Thymus
36	chr3:155474200-155487600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr3:155474200-155487800	Weak transcription	Spleen	Spleen
38	chr3:155474200-155490600	Weak transcription	Colon Smooth Muscle	Colon
39	chr3:155474200-155497600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr3:155474400-155492000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr3:155474800-155487400	Weak transcription	Dnd41	blood
42	chr3:155474800-155487800	Weak transcription	Primary T cells from cord blood	blood
43	chr3:155474800-155489000	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr3:155475200-155491000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr3:155475200-155492200	Weak transcription	Fetal Kidney	kidney
46	chr3:155476400-155487400	Weak transcription	Left Ventricle	heart
47	chr3:155476400-155487800	Weak transcription	Fetal Stomach	stomach
48	chr3:155476600-155500000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr3:155477000-155487600	Weak transcription	Ovary	ovary
50	chr3:155478400-155487400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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