Variant report

Variant	esv3353459
Chromosome Location	chr3:155040657-155049561
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:155048254..155049956-chr3:155051342..155053719,2	K562	blood:
2	chr3:154672536..154673313-chr3:155040413..155041108,3	K562	blood:
3	chr3:155032593..155035377-chr3:155049024..155050737,2	K562	blood:
4	chr3:155047140..155049699-chr3:155057604..155060812,3	K562	blood:
5	chr3:155042606..155044829-chr3:155047541..155050444,2	K562	blood:
6	chr3:154621793..154622376-chr3:155040473..155041112,3	MCF-7	breast:
7	chr3:154730396..154731084-chr3:155040614..155041475,2	MCF-7	breast:
8	chr3:154931373..154932590-chr3:155040806..155041543,3	MCF-7	breast:
9	chr3:154897899..154898746-chr3:155040254..155041497,4	MCF-7	breast:
10	chr3:155042606..155044829-chr3:155047541..155050444,2	K562	blood:
11	chr3:155047639..155049986-chr3:155057159..155060511,3	K562	blood:
12	chr3:154475863..154476760-chr3:155040797..155041493,3	MCF-7	breast:
13	chr3:154475313..154476673-chr3:155040579..155041345,4	MCF-7	breast:
14	chr3:154977427..154979375-chr3:155049246..155052225,2	K562	blood:
15	chr3:154052649..154053250-chr3:155040585..155041478,2	K562	blood:
16	chr3:155047884..155049754-chr3:155051539..155053719,2	K562	blood:

No data

Extended variants
information (count: 341 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:341 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201373083	chr3:155040660-155040661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548789082	chr3:155040676-155040677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570293835	chr3:155040768-155040769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184610675	chr3:155040867-155040868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79013957	chr3:155040870-155040871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570722924	chr3:155040892-155040893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115984488	chr3:155040963-155040964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78143886	chr3:155041021-155041022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6795460	chr3:155041067-155041068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535589212	chr3:155041068-155041069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554321204	chr3:155041092-155041093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575854211	chr3:155041102-155041103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374351182	chr3:155041131-155041132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550935072	chr3:155041215-155041216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79454019	chr3:155041218-155041219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570825868	chr3:155041258-155041259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565198058	chr3:155041262-155041263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139717483	chr3:155041300-155041301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576718764	chr3:155041376-155041377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187881919	chr3:155041418-155041419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565096825	chr3:155041464-155041465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559429890	chr3:155041468-155041469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375205094	chr3:155041515-155041516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148585022	chr3:155041523-155041524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76834456	chr3:155041554-155041555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563843075	chr3:155041561-155041562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531150343	chr3:155041600-155041601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552552122	chr3:155041601-155041602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373574261	chr3:155041619-155041620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191935244	chr3:155041631-155041632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565407650	chr3:155041705-155041706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78249312	chr3:155041843-155041844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57333732	chr3:155041858-155041859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs568144480	chr3:155041868-155041869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116842404	chr3:155041916-155041917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551094663	chr3:155041922-155041923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557053075	chr3:155041953-155041954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569713179	chr3:155041962-155041963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569727475	chr3:155042012-155042013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537257506	chr3:155042039-155042040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142764866	chr3:155042042-155042043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73007821	chr3:155042056-155042057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540999089	chr3:155042072-155042073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185248523	chr3:155042078-155042079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574505339	chr3:155042185-155042186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146047122	chr3:155042188-155042189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs386667320	chr3:155042201-155042202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112085837	chr3:155042219-155042220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530961067	chr3:155042220-155042221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546375213	chr3:155042248-155042249	Weak transcription	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
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
Bladder cancer	21909424	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Cancer	17440070	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155037200-155043800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:155039600-155044800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:155040400-155044000	Weak transcription	K562	blood
4	chr3:155043200-155043800	Active TSS	Duodenum Mucosa	Duodenum
5	chr3:155043200-155043800	Active TSS	HepG2	liver
6	chr3:155043200-155044000	Active TSS	Hela-S3	cervix
7	chr3:155043400-155043600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:155043400-155043800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr3:155043400-155043800	Active TSS	Colonic Mucosa	Colon
10	chr3:155043400-155043800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr3:155043400-155043800	Active TSS	Pancreas	Pancrea
12	chr3:155043400-155043800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr3:155043400-155043800	Active TSS	Stomach Smooth Muscle	stomach
14	chr3:155043400-155043800	Active TSS	A549	lung
15	chr3:155043400-155044000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:155043400-155044200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:155043400-155045400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr3:155043400-155045600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:155043600-155043800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:155043600-155044200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:155043600-155045400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:155043800-155044000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:155043800-155044800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:155043800-155045200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr3:155044000-155044600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:155044000-155046400	Enhancers	K562	blood
27	chr3:155044200-155044600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:155044600-155045200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:155044600-155045200	Enhancers	Primary hematopoietic stem cells	blood
30	chr3:155044600-155045400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:155044800-155045000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:155044800-155045200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:155044800-155045200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr3:155044800-155045200	Enhancers	HMEC	breast
35	chr3:155044800-155045400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:155044800-155045600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:155045000-155046600	Enhancers	Fetal Intestine Small	intestine
38	chr3:155045200-155046400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:155045200-155046400	Enhancers	Duodenum Mucosa	Duodenum
40	chr3:155045200-155046400	Enhancers	Small Intestine	intestine
41	chr3:155045200-155050800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr3:155045400-155046200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr3:155045400-155047400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr3:155045400-155047600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:155045600-155047400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:155046200-155046400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr3:155046400-155046600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:155046400-155046800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:155046400-155048200	Weak transcription	K562	blood
50	chr3:155047400-155048400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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