Variant report

Variant	nsv591820
Chromosome Location	chr3:133134361-133143318
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:132759801..132760742-chr3:133142128..133143076,4	K562	blood:
2	chr3:132450041..132450545-chr3:133142532..133143079,2	MCF-7	breast:
3	chr3:132440764..132443232-chr3:133142306..133144547,2	MCF-7	breast:
4	chr3:132450051..132450561-chr3:133142135..133143010,2	MCF-7	breast:
5	chr3:9757483..9758292-chr3:133142110..133142638,2	MCF-7	breast:
6	chr3:133105226..133106115-chr3:133142183..133142702,2	MCF-7	breast:
7	chr3:132254793..132255497-chr3:133142223..133143012,2	MCF-7	breast:
8	chr3:132759782..132760302-chr3:133142211..133142884,2	MCF-7	breast:
9	chr3:132449765..132450613-chr3:133142265..133142889,2	K562	blood:
10	chr3:132444895..132445778-chr3:133142129..133143849,5	K562	blood:
11	chr3:133105415..133106537-chr3:133142074..133142947,6	MCF-7	breast:
12	chr3:132759750..132760749-chr3:133142099..133143085,7	MCF-7	breast:
13	chr3:133112630..133114708-chr3:133139610..133142045,2	MCF-7	breast:
14	chr3:133130542..133132514-chr3:133135726..133138397,2	K562	blood:
15	chr3:133103081..133103646-chr3:133142086..133142975,2	MCF-7	breast:
16	chr3:132445024..132445748-chr3:133142162..133143068,3	MCF-7	breast:
17	chr3:132439632..132442220-chr3:133141166..133143810,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248724	chromatin interactions
ENSG00000113971	chromatin interactions
ENSG00000144868	chromatin interactions

Extended variants
information (count: 432 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:432 , 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	rs542739491	chr3:133134372-133134373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375354023	chr3:133134379-133134380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367905819	chr3:133134382-133134383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371453497	chr3:133134386-133134387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571145122	chr3:133134394-133134395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116291837	chr3:133134416-133134417	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs115483161	chr3:133134417-133134418	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs140682761	chr3:133134433-133134434	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs143239357	chr3:133134436-133134437	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs146523098	chr3:133134440-133134441	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs545218245	chr3:133134461-133134462	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs201538353	chr3:133134521-133134522	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs377633817	chr3:133134538-133134539	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs376368804	chr3:133134540-133134541	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs79939575	chr3:133134546-133134547	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs144638441	chr3:133134548-133134549	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs75285052	chr3:133134551-133134552	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs192202664	chr3:133134555-133134556	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs80134846	chr3:133134569-133134570	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs79094702	chr3:133134571-133134572	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs77278442	chr3:133134574-133134575	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs80328789	chr3:133134577-133134578	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs74332586	chr3:133134578-133134579	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs79855501	chr3:133134600-133134601	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs77608379	chr3:133134603-133134604	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs77649588	chr3:133134622-133134623	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs75238736	chr3:133134623-133134624	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs74852183	chr3:133134626-133134627	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs76693247	chr3:133134631-133134632	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs2699875	chr3:133134633-133134634	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs75448713	chr3:133134641-133134642	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs78479649	chr3:133134645-133134646	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs79003005	chr3:133134649-133134650	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs527998343	chr3:133134670-133134671	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs140824794	chr3:133134713-133134714	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs566509076	chr3:133134735-133134736	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs528961085	chr3:133134753-133134754	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs549135821	chr3:133134761-133134762	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs375333927	chr3:133134793-133134794	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs144581362	chr3:133134811-133134812	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs557990175	chr3:133134819-133134820	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs139980211	chr3:133134832-133134833	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs111488433	chr3:133134856-133134857	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs534141235	chr3:133134869-133134870	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs140120515	chr3:133134878-133134879	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs553856868	chr3:133134946-133134947	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs541570393	chr3:133134950-133134951	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs76787466	chr3:133134985-133134986	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs559781162	chr3:133134989-133134990	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs183664635	chr3:133135015-133135016	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Hailey-hailey disease	17597066	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133124600-133138400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:133133000-133140600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:133134400-133135200	Active TSS	Spleen	Spleen
4	chr3:133138400-133140600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:133138600-133140600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:133139400-133139800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:133141800-133143000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr3:133141800-133143000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:133142000-133142200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr3:133142000-133142200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
11	chr3:133142000-133142400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:133142000-133142400	Enhancers	Osteobl	bone
13	chr3:133142200-133142800	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr3:133142200-133144600	Enhancers	Primary B cells from peripheral blood	blood
15	chr3:133142400-133142600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr3:133142400-133142800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr3:133142400-133142800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr3:133142400-133142800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:133142400-133142800	Enhancers	Fetal Muscle Trunk	muscle
20	chr3:133142400-133142800	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr3:133142400-133142800	Enhancers	Placenta	Placenta
22	chr3:133142400-133142800	Flanking Active TSS	Osteobl	bone
23	chr3:133142600-133142800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:133142600-133142800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:133142600-133142800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:133142600-133142800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
27	chr3:133142600-133142800	Enhancers	Liver	Liver
28	chr3:133142600-133142800	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr3:133142600-133142800	Enhancers	Esophagus	oesophagus
30	chr3:133142600-133142800	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr3:133142600-133143000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr3:133142600-133143000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr3:133142600-133143000	Enhancers	Fetal Brain Male	brain
34	chr3:133142600-133143000	Enhancers	Fetal Thymus	thymus
35	chr3:133142600-133143000	Bivalent Enhancer	Thymus	Thymus
36	chr3:133142600-133143000	Enhancers	HSMMtube	muscle
37	chr3:133142600-133144200	Enhancers	GM12878-XiMat	blood
38	chr3:133142800-133143200	Enhancers	Primary B cells from cord blood	blood
39	chr3:133142800-133143800	Weak transcription	Liver	Liver
40	chr3:133142800-133145200	Weak transcription	Osteobl	bone
41	chr3:133142800-133147000	Weak transcription	Placenta	Placenta
42	chr3:133142800-133147200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:133142800-133147400	Weak transcription	Esophagus	oesophagus
44	chr3:133142800-133151800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:133142800-133154000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr3:133143000-133145200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr3:133143000-133145400	Weak transcription	HSMMtube	muscle
48	chr3:133143000-133145800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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