Variant report

Variant	nsv460881
Chromosome Location	chr3:146512753-146569037
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:146535595..146536102-chr3:147133508..147134222,2	MCF-7	breast:
2	chr3:146568702..146571051-chr3:146573084..146575725,2	K562	blood:
3	chr3:146535184..146535986-chr3:147334472..147335106,2	MCF-7	breast:
4	chr3:146544997..146545778-chr7:73597769..73598409,2	MCF-7	breast:
5	chr3:146534888..146535944-chr3:147793502..147794515,3	MCF-7	breast:
6	chr3:146523515..146525331-chr3:147109923..147112497,2	MCF-7	breast:
7	chr3:146543043..146545819-chr3:146575097..146577219,2	MCF-7	breast:
8	chr3:146535264..146535780-chr3:146909367..146910281,2	MCF-7	breast:
9	chr3:146540807..146541687-chr3:146910591..146911284,2	MCF-7	breast:
10	chr3:146535974..146536861-chr3:146909343..146910183,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000152977	chromatin interactions
ENSG00000174963	chromatin interactions
ENSG00000106682	chromatin interactions

Extended variants
information (count: 1348 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1348 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528590872	chr3:146513232-146513233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533760739	chr3:146513290-146513291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375953473	chr3:146513309-146513310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183389625	chr3:146513331-146513332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184241516	chr3:146513804-146513805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563132798	chr3:146513887-146513888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531891135	chr3:146513902-146513903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548911829	chr3:146513954-146513955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567230702	chr3:146513955-146513956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529717141	chr3:146513996-146513997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539314576	chr3:146514053-146514054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9831862	chr3:146514079-146514080	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188284378	chr3:146514098-146514099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558443613	chr3:146514099-146514100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117029286	chr3:146514104-146514105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200553217	chr3:146514153-146514154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113445569	chr3:146514166-146514167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537738332	chr3:146514214-146514215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201460661	chr3:146514218-146514219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77779565	chr3:146514225-146514226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397688899	chr3:146514226-146514227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192569941	chr3:146514258-146514259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184853613	chr3:146514328-146514329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112375955	chr3:146514331-146514332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540254325	chr3:146514367-146514368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144340775	chr3:146514390-146514391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79219095	chr3:146514440-146514441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577251723	chr3:146514513-146514514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536808944	chr3:146514531-146514532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546308036	chr3:146514565-146514566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562937927	chr3:146514596-146514597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189367751	chr3:146514609-146514610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs180778926	chr3:146514631-146514632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542493497	chr3:146514672-146514673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542958967	chr3:146514698-146514699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185040012	chr3:146514745-146514746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575668674	chr3:146514903-146514904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9828677	chr3:146514920-146514921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs546603294	chr3:146514940-146514941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566489256	chr3:146514952-146514953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532103056	chr3:146514976-146514977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552289055	chr3:146514988-146514989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573522135	chr3:146515029-146515030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72989945	chr3:146515100-146515101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374230192	chr3:146515128-146515129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568916671	chr3:146515166-146515167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538050645	chr3:146515170-146515171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554417114	chr3:146515198-146515199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145613195	chr3:146515202-146515203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189321124	chr3:146515321-146515322	Weak transcription	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
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
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146513200-146513400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr3:146513800-146514200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:146514000-146514200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr3:146514200-146520400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:146518600-146519200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:146519200-146519600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:146519200-146519600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:146519200-146519800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:146519200-146523000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:146519400-146519600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr3:146519400-146519600	Enhancers	NHLF	lung
12	chr3:146519400-146522000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr3:146519600-146520000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:146519600-146522000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:146519600-146532800	Weak transcription	NHLF	lung
16	chr3:146519800-146520200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:146519800-146521000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr3:146520000-146523000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:146520200-146521800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:146520400-146521000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:146520400-146522000	Enhancers	Dnd41	blood
22	chr3:146520400-146523000	Enhancers	NHDF-Ad	bronchial
23	chr3:146520600-146522400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:146521000-146521400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:146521000-146522200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:146521000-146522200	Enhancers	Osteobl	bone
27	chr3:146521000-146522600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr3:146521200-146522400	Enhancers	HSMM	muscle
29	chr3:146521200-146522600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:146521400-146522000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr3:146521400-146522000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:146521600-146522000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr3:146522000-146527400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:146522400-146531200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr3:146523000-146531000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:146523000-146531000	Weak transcription	NHDF-Ad	bronchial
37	chr3:146523800-146524200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:146524800-146525600	Active TSS	A549	lung
39	chr3:146526000-146526400	Enhancers	Fetal Heart	heart
40	chr3:146526400-146527400	Weak transcription	Fetal Heart	heart
41	chr3:146527400-146528000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:146527600-146527800	Enhancers	Fetal Heart	heart
43	chr3:146528000-146534200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:146530800-146533600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:146531000-146531200	Enhancers	NH-A	brain
46	chr3:146531000-146531600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:146531000-146531600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:146531000-146531600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:146531000-146531800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr3:146531000-146532000	Enhancers	HUES64 Cell Line	embryonic stem cell

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