Variant report

Variant	esv3693343
Chromosome Location	chr3:155481609-155493915
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	chr3:155479593..155481988-chr3:155483221..155485642,3	K562	blood:
2	chr3:155480147..155483683-chr3:155487368..155490043,3	K562	blood:
3	chr3:155481429..155485286-chr3:155486373..155491702,5	K562	blood:
4	chr3:155481429..155485286-chr3:155486373..155491702,5	K562	blood:
5	chr3:155483233..155486124-chr3:155587848..155589390,2	MCF-7	breast:
6	chr3:155491839..155493601-chr3:155495108..155496890,2	K562	blood:
7	chr3:155491831..155494360-chr3:155588180..155590433,3	K562	blood:
8	chr3:155489353..155491545-chr3:155498387..155500105,2	MCF-7	breast:
9	chr3:155371134..155373846-chr3:155480180..155482982,2	K562	blood:
10	chr3:155479593..155481988-chr3:155483221..155485642,3	K562	blood:
11	chr3:155488449..155490862-chr3:155570678..155572291,2	MCF-7	breast:
12	chr3:155480147..155483683-chr3:155487368..155490043,3	K562	blood:
13	chr3:155489809..155491892-chr3:155496902..155499266,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000169359	chromatin interactions
ENSG00000163655	chromatin interactions

Extended variants
information (count: 478 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:478 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7653384	chr3:155481609-155481610	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs267599663	chr3:155481684-155481685	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147770210	chr3:155481692-155481693	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115731681	chr3:155481693-155481694	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374247931	chr3:155481704-155481705	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527782923	chr3:155481805-155481806	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183654449	chr3:155482011-155482012	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528559793	chr3:155482028-155482029	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555880143	chr3:155482038-155482039	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574413422	chr3:155482045-155482046	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547613643	chr3:155482063-155482064	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567085194	chr3:155482064-155482065	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140222383	chr3:155482083-155482084	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186800622	chr3:155482144-155482145	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114167273	chr3:155482154-155482155	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541542527	chr3:155482210-155482211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559200902	chr3:155482230-155482231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569552524	chr3:155482277-155482278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72305331	chr3:155482321-155482322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150328317	chr3:155482332-155482333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551871650	chr3:155482342-155482343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144933703	chr3:155482363-155482364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534679349	chr3:155482368-155482369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149193257	chr3:155482413-155482414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62284737	chr3:155482415-155482416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575046901	chr3:155482418-155482419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145088528	chr3:155482420-155482421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565230610	chr3:155482477-155482478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191296740	chr3:155482487-155482488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113257374	chr3:155482507-155482508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546210381	chr3:155482512-155482513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs358735	chr3:155482517-155482518	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs573307670	chr3:155482522-155482523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183104833	chr3:155482576-155482577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148083063	chr3:155482577-155482578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574562657	chr3:155482672-155482673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529791938	chr3:155482680-155482681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371448624	chr3:155482703-155482704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547978815	chr3:155482733-155482734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563634904	chr3:155482791-155482792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374741367	chr3:155482823-155482824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552174084	chr3:155482839-155482840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570320232	chr3:155482910-155482911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112677625	chr3:155482981-155482982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141821718	chr3:155482995-155482996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568161786	chr3:155483004-155483005	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs536098949	chr3:155483019-155483020	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs187137784	chr3:155483021-155483022	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs191221058	chr3:155483100-155483101	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs575919765	chr3:155483103-155483104	Weak transcription Strong transcription ZNF genes & repeats	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:276 , 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	chr3:155467400-155508400	Weak transcription	HepG2	liver
17	chr3:155468000-155487200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:155470200-155483000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr3:155470400-155487400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:155470400-155487600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:155470800-155487400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:155471000-155487400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:155471000-155487800	Weak transcription	Right Ventricle	heart
24	chr3:155471200-155487600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr3:155471400-155509000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:155471800-155487600	Weak transcription	Brain Angular Gyrus	brain
27	chr3:155472200-155487600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr3:155472400-155487200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:155472800-155488000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:155472800-155500000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr3:155473200-155487400	Weak transcription	Fetal Muscle Leg	muscle
32	chr3:155473200-155487400	Weak transcription	Thymus	Thymus
33	chr3:155474200-155487600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr3:155474200-155487800	Weak transcription	Spleen	Spleen
35	chr3:155474200-155490600	Weak transcription	Colon Smooth Muscle	Colon
36	chr3:155474200-155497600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr3:155474400-155492000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr3:155474800-155487400	Weak transcription	Dnd41	blood
39	chr3:155474800-155487800	Weak transcription	Primary T cells from cord blood	blood
40	chr3:155474800-155489000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr3:155475200-155491000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr3:155475200-155492200	Weak transcription	Fetal Kidney	kidney
43	chr3:155476400-155487400	Weak transcription	Left Ventricle	heart
44	chr3:155476400-155487800	Weak transcription	Fetal Stomach	stomach
45	chr3:155476600-155500000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr3:155477000-155487600	Weak transcription	Ovary	ovary
47	chr3:155478400-155487400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:155478400-155487400	Weak transcription	Brain Germinal Matrix	brain
49	chr3:155478600-155509000	Weak transcription	Gastric	stomach
50	chr3:155478800-155487400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links