Variant report

Variant	nsv1005754
Chromosome Location	chr3:144529346-144984363
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:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:144704871..144707532-chr3:144708547..144711084,3	K562	blood:
2	chr3:144561413..144562304-chr3:145485449..145486072,2	MCF-7	breast:
3	chr3:144640641..144642576-chr3:144644926..144648112,3	K562	blood:
4	chr3:144677268..144680196-chr3:144681533..144683917,2	MCF-7	breast:
5	chr3:144921874..144923525-chr3:144926968..144929647,2	K562	blood:
6	chr3:144956656..144959403-chr3:144961256..144963279,2	K562	blood:
7	chr3:144704871..144707532-chr3:144708547..144711084,3	K562	blood:
8	chr3:144968846..144970924-chr3:144975225..144978166,2	MCF-7	breast:
9	chr3:144801248..144803452-chr3:144804044..144806004,2	MCF-7	breast:
10	chr3:144561362..144562332-chr3:144947459..144947984,2	MCF-7	breast:
11	chr3:144547825..144550873-chr3:144553583..144558311,4	K562	blood:
12	chr3:144893866..144896730-chr3:144914828..144916651,2	MCF-7	breast:
13	chr11:39310342..39312522-chr3:144736797..144739466,2	MCF-7	breast:
14	chr3:144956656..144959403-chr3:144961256..144963279,2	K562	blood:
15	chr3:144984069..144984806-chr3:145485343..145486312,4	MCF-7	breast:
16	chr3:144681479..144683361-chr3:144684268..144686826,2	K562	blood:
17	chr3:144561362..144562332-chr3:144947459..144947984,2	MCF-7	breast:
18	chr3:144743763..144746296-chr3:144748926..144751445,2	MCF-7	breast:
19	chr17:57915602..57917175-chr3:144590295..144592876,2	MCF-7	breast:
20	chr3:144743763..144746296-chr3:144748926..144751445,2	MCF-7	breast:
21	chr3:144893866..144896730-chr3:144914828..144916651,2	MCF-7	breast:
22	chr3:144983996..144984506-chr3:145485486..145486139,2	MCF-7	breast:
23	chr12:57751005..57751961-chr3:144675108..144675976,2	MCF-7	breast:
24	chr3:144677268..144680196-chr3:144681533..144683917,2	MCF-7	breast:
25	chr3:144547825..144550873-chr3:144553583..144558311,4	K562	blood:
26	chr3:144984029..144984834-chr3:145416240..145416755,2	MCF-7	breast:
27	chr3:144921874..144923525-chr3:144926968..144929647,2	K562	blood:
28	chr3:144640641..144642576-chr3:144644926..144648112,3	K562	blood:
29	chr3:144907743..144909618-chr3:144913661..144915223,2	K562	blood:
30	chr3:144907743..144909618-chr3:144913661..144915223,2	K562	blood:
31	chr3:144968846..144970924-chr3:144975225..144978166,2	MCF-7	breast:
32	chr3:144983651..144984522-chr3:145123095..145123660,2	MCF-7	breast:
33	chr3:144801248..144803452-chr3:144804044..144806004,2	MCF-7	breast:
34	chr3:144681479..144683361-chr3:144684268..144686826,2	K562	blood:

No data

Extended variants
information (count: 6876 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:6876 , 50 per page) page: 1 2 3 4 5 6 7 ... 138

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574530745	chr3:144529424-144529425	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs76444512	chr3:144529428-144529429	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs58515516	chr3:144529430-144529431	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs528514980	chr3:144529457-144529458	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs540655493	chr3:144529463-144529464	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs58351881	chr3:144529474-144529475	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs147435266	chr3:144529479-144529480	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs148474059	chr3:144529482-144529483	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs533662876	chr3:144529487-144529488	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs551818903	chr3:144529566-144529567	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs570319833	chr3:144529574-144529575	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs940067	chr3:144529613-144529614	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs530191188	chr3:144529620-144529621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539564271	chr3:144529633-144529634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547903921	chr3:144529649-144529650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556229554	chr3:144529664-144529665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142666983	chr3:144529701-144529702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76172266	chr3:144529702-144529703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150624194	chr3:144529707-144529708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570426352	chr3:144529814-144529815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539109149	chr3:144529819-144529820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373357676	chr3:144529832-144529833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185308419	chr3:144529833-144529834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190167193	chr3:144529870-144529871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553985116	chr3:144529881-144529882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182117531	chr3:144529905-144529906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73010095	chr3:144530024-144530025	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs186006313	chr3:144530039-144530040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111992758	chr3:144530048-144530049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114368540	chr3:144530055-144530056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78992076	chr3:144530110-144530111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369275752	chr3:144530129-144530130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563161475	chr3:144530195-144530196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551388063	chr3:144534815-144534816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114554774	chr3:144534852-144534853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369516828	chr3:144534884-144534885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550625415	chr3:144534902-144534903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182935511	chr3:144534904-144534905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531415578	chr3:144534923-144534924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73010102	chr3:144534938-144534939	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs139595134	chr3:144534950-144534951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576929102	chr3:144534969-144534970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545188284	chr3:144534990-144534991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144272272	chr3:144535033-144535034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575788984	chr3:144535056-144535057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187444247	chr3:144535098-144535099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561259061	chr3:144535226-144535227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528833309	chr3:144535274-144535275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547222968	chr3:144535282-144535283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569704629	chr3:144535293-144535294	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Schizophrenia	20967226	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:479 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144527400-144530200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:144527800-144529400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr3:144527800-144529600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr3:144528000-144529600	Enhancers	GM12878-XiMat	blood
5	chr3:144534800-144535800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:144535000-144535800	Enhancers	NHDF-Ad	bronchial
7	chr3:144535200-144536600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:144535800-144539600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:144535800-144539600	Weak transcription	NHDF-Ad	bronchial
10	chr3:144538400-144539000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:144538400-144539200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:144538400-144539200	Enhancers	Adipose Nuclei	Adipose
13	chr3:144538600-144539000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:144538600-144539000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:144538600-144539000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr3:144538600-144539000	Enhancers	Fetal Lung	lung
17	chr3:144538600-144539000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr3:144538800-144539400	Enhancers	Ovary	ovary
19	chr3:144539600-144542200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:144539600-144542400	Enhancers	NHDF-Ad	bronchial
21	chr3:144540600-144540800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr3:144541000-144542200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr3:144541400-144542400	Enhancers	HUVEC	blood vessel
24	chr3:144542000-144542400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:144542200-144542400	Enhancers	Brain Substantia Nigra	brain
26	chr3:144550000-144552200	Enhancers	HUVEC	blood vessel
27	chr3:144550600-144551000	Enhancers	Pancreas	Pancrea
28	chr3:144550600-144551200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:144550600-144551400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:144550600-144551400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr3:144551000-144553400	Weak transcription	Pancreas	Pancrea
32	chr3:144553400-144553800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:144553400-144553800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:144553400-144553800	ZNF genes & repeats	Pancreas	Pancrea
35	chr3:144559000-144560600	Enhancers	HUVEC	blood vessel
36	chr3:144560600-144565200	Weak transcription	HUVEC	blood vessel
37	chr3:144565200-144565600	Enhancers	HUVEC	blood vessel
38	chr3:144570800-144571000	Enhancers	Brain Cingulate Gyrus	brain
39	chr3:144570800-144571600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr3:144570800-144571600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr3:144577000-144577400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr3:144577000-144577600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:144577400-144578200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr3:144578000-144578400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr3:144578000-144578600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr3:144578000-144578600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr3:144578000-144578600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr3:144578200-144578400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr3:144578400-144584800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr3:144583200-144584200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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