Variant report

Variant	nsv963319
Chromosome Location	chr3:52082531-52085712
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52085365..52087890-chr3:52105786..52108458,2	MCF-7	breast:
2	chr3:52081717..52084424-chr3:52095750..52098933,3	K562	blood:
3	chr3:52077892..52079847-chr3:52080984..52082911,3	MCF-7	breast:
4	chr3:52071945..52074721-chr3:52081198..52083628,2	K562	blood:
5	chr3:52073219..52077192-chr3:52084183..52087148,3	K562	blood:
6	chr3:52035106..52036016-chr3:52083953..52084656,2	MCF-7	breast:
7	chr3:52048463..52050147-chr3:52081246..52082916,2	MCF-7	breast:
8	chr3:52063502..52067953-chr3:52083827..52087506,5	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	DUSP7	hsa-let-7c-5p	chr3:52083255-52083249

Variant related genes	Relation type
ENSG00000256097	chromatin interactions

Extended variants
information (count: 131 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148304002	chr3:52082538-52082539	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs143071238	chr3:52082588-52082589	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs188428038	chr3:52082605-52082606	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567608833	chr3:52082636-52082637	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs553549565	chr3:52082684-52082685	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs374805432	chr3:52082691-52082692	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs556419194	chr3:52082873-52082874	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs193188004	chr3:52082929-52082930	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538852087	chr3:52082979-52082980	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs7614175	chr3:52082991-52082992	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs138760384	chr3:52082994-52082995	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs553981299	chr3:52083007-52083008	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs572175709	chr3:52083020-52083021	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs185464933	chr3:52083091-52083092	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs572025697	chr3:52083102-52083103	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539016576	chr3:52083139-52083140	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs1127035	chr3:52083145-52083146	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs575988753	chr3:52083148-52083149	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs369630401	chr3:52083153-52083154	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs189246237	chr3:52083159-52083160	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs533408969	chr3:52083194-52083195	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs370541959	chr3:52083195-52083196	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs560264461	chr3:52083222-52083223	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs373725440	chr3:52083249-52083250	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs549446191	chr3:52083268-52083269	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs367797676	chr3:52083320-52083321	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs567600153	chr3:52083351-52083352	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs531710549	chr3:52083353-52083354	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs550165033	chr3:52083415-52083416	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571587394	chr3:52083469-52083470	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs371333118	chr3:52083472-52083473	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs147485394	chr3:52083497-52083498	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565859405	chr3:52083507-52083508	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs553823342	chr3:52083528-52083529	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs536009734	chr3:52083625-52083626	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs34861504	chr3:52083642-52083643	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs74328888	chr3:52083651-52083652	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs116661152	chr3:52083686-52083687	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs543418668	chr3:52083690-52083691	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs34622965	chr3:52083698-52083699	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs558099360	chr3:52083710-52083711	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs577918250	chr3:52083716-52083717	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545254701	chr3:52083740-52083741	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs574086351	chr3:52083752-52083753	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs560353514	chr3:52083760-52083761	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs541531077	chr3:52083774-52083775	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs76015595	chr3:52083794-52083795	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs527883195	chr3:52083797-52083798	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs76384506	chr3:52083798-52083799	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542781779	chr3:52083810-52083811	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52074000-52083200	Weak transcription	Pancreas	Pancrea
2	chr3:52074400-52083200	Weak transcription	Liver	Liver
3	chr3:52076000-52086400	Weak transcription	Fetal Brain Male	brain
4	chr3:52077600-52083400	Enhancers	Brain Angular Gyrus	brain
5	chr3:52077800-52083400	Weak transcription	Primary B cells from cord blood	blood
6	chr3:52078000-52083200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr3:52078000-52083400	Weak transcription	Colon Smooth Muscle	Colon
8	chr3:52078000-52084000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:52078200-52083800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr3:52078200-52084200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:52078600-52084200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:52078800-52083200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr3:52078800-52083200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr3:52079400-52082600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:52079400-52082800	Enhancers	HUVEC	blood vessel
16	chr3:52079600-52083200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:52079800-52083400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr3:52079800-52083600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:52079800-52084000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:52079800-52085000	Weak transcription	K562	blood
21	chr3:52080000-52082600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:52080200-52083200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr3:52080200-52083200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr3:52080400-52082600	Enhancers	Stomach Mucosa	stomach
25	chr3:52080400-52082800	Enhancers	Fetal Lung	lung
26	chr3:52080400-52082800	Genic enhancers	Fetal Stomach	stomach
27	chr3:52080400-52083200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:52080400-52083200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr3:52080600-52082600	Weak transcription	Dnd41	blood
30	chr3:52080600-52083200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:52080800-52083200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr3:52080800-52085000	Weak transcription	GM12878-XiMat	blood
33	chr3:52081000-52083400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:52081000-52084000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr3:52081200-52082600	Enhancers	NHDF-Ad	bronchial
36	chr3:52081200-52083000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr3:52081200-52083200	Weak transcription	Small Intestine	intestine
38	chr3:52081200-52083400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:52081200-52083800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:52081200-52086600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr3:52081400-52082600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr3:52081400-52083200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:52081400-52083400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:52081400-52083400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:52081400-52085200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr3:52081400-52085800	Strong transcription	Thymus	Thymus
47	chr3:52081400-52086400	Weak transcription	Psoas Muscle	Psoas
48	chr3:52081600-52082600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr3:52081600-52082600	Enhancers	Aorta	Aorta
50	chr3:52081600-52083000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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