Variant report

Variant	nsv1019190
Chromosome Location	chr7:3896634-3943566
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:2904504..2905327-chr7:3936730..3937942,4	K562	blood:
2	chr7:3895859..3898107-chr7:3900891..3903068,3	MCF-7	breast:
3	chr7:3937855..3940563-chr7:3945183..3947294,2	MCF-7	breast:
4	chr7:3340173..3341123-chr7:3936740..3937675,3	MCF-7	breast:
5	chr7:3931415..3933843-chr7:3939844..3942061,2	MCF-7	breast:
6	chr7:3928899..3931100-chr7:3932118..3934990,2	K562	blood:
7	chr7:3734945..3735889-chr7:3936899..3937757,3	MCF-7	breast:
8	chr7:3928899..3931100-chr7:3932118..3934990,2	K562	blood:
9	chr7:3443032..3445719-chr7:3938528..3940389,2	MCF-7	breast:
10	chr7:3931415..3933843-chr7:3939844..3942061,2	MCF-7	breast:
11	chr7:3895859..3898107-chr7:3900891..3903068,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000146555	chromatin interactions

Extended variants
information (count: 2670 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2670 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12701229	chr7:3896634-3896635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542999218	chr7:3896660-3896661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs80181039	chr7:3896663-3896664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189558277	chr7:3896664-3896665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572758120	chr7:3896681-3896682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532327160	chr7:3896687-3896688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541477269	chr7:3896704-3896705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73312005	chr7:3896712-3896713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs575274174	chr7:3896750-3896751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368020114	chr7:3896759-3896760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115523321	chr7:3896802-3896803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116837009	chr7:3896824-3896825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs41449945	chr7:3896841-3896842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs370263061	chr7:3896884-3896885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76125235	chr7:3896893-3896894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559809947	chr7:3896894-3896895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192028329	chr7:3896904-3896905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548319345	chr7:3896936-3896937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568525765	chr7:3896949-3896950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567744251	chr7:3897018-3897019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530951528	chr7:3897086-3897087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531802404	chr7:3897099-3897100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184677545	chr7:3897112-3897113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147895198	chr7:3897117-3897118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189495609	chr7:3897136-3897137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114164732	chr7:3897157-3897158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566677488	chr7:3897163-3897164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114863576	chr7:3897166-3897167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112969861	chr7:3897177-3897178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141560123	chr7:3897178-3897179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113409137	chr7:3897188-3897189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557893869	chr7:3897212-3897213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372276322	chr7:3897218-3897219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375766220	chr7:3897255-3897256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546439938	chr7:3897260-3897261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540873018	chr7:3897268-3897269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536425784	chr7:3897294-3897295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528816910	chr7:3897296-3897297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs137895206	chr7:3897318-3897319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76491789	chr7:3897329-3897330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs398110981	chr7:3897330-3897331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73312006	chr7:3897401-3897402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs530817720	chr7:3897406-3897407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561219710	chr7:3897425-3897426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199860545	chr7:3897452-3897453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116198520	chr7:3897517-3897518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181593926	chr7:3897565-3897566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564258221	chr7:3897571-3897572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375394836	chr7:3897586-3897587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532935220	chr7:3897634-3897635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3894800-3900600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:3894800-3901600	Weak transcription	Aorta	Aorta
3	chr7:3898200-3901000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:3898800-3899000	Enhancers	Lung	lung
5	chr7:3899200-3900600	Weak transcription	Lung	lung
6	chr7:3900200-3902600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:3900600-3901000	Enhancers	Right Atrium	heart
8	chr7:3900600-3901200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:3900600-3901200	Enhancers	Lung	lung
10	chr7:3900600-3901600	Enhancers	Fetal Lung	lung
11	chr7:3900600-3902000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:3900600-3902200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:3900600-3902200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr7:3900600-3902400	Enhancers	Colon Smooth Muscle	Colon
15	chr7:3900600-3902800	Enhancers	H9 Cell Line	embryonic stem cell
16	chr7:3900600-3902800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:3900800-3901200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr7:3900800-3901800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:3900800-3902200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:3901000-3901200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:3901000-3901200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:3901000-3901200	Enhancers	Pancreas	Pancrea
23	chr7:3901000-3901400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:3901000-3901400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr7:3901000-3901400	Weak transcription	Right Atrium	heart
26	chr7:3901000-3901600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:3901000-3901800	Enhancers	HSMMtube	muscle
28	chr7:3901000-3902000	Enhancers	Fetal Stomach	stomach
29	chr7:3901000-3902400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr7:3901000-3902400	Enhancers	Adipose Nuclei	Adipose
31	chr7:3901000-3902600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:3901000-3902800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr7:3901000-3902800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr7:3901200-3901600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:3901200-3901600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:3901200-3901800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:3901200-3901800	Enhancers	Brain Germinal Matrix	brain
38	chr7:3901200-3902200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:3901200-3902200	Enhancers	NHEK	skin
40	chr7:3901200-3902400	Weak transcription	Lung	lung
41	chr7:3901200-3902600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:3901200-3902600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr7:3901200-3902800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr7:3901200-3902800	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr7:3901200-3959600	Weak transcription	Pancreas	Pancrea
46	chr7:3901400-3901600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:3901400-3901800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:3901400-3902000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:3901400-3902000	Enhancers	Brain Anterior Caudate	brain
50	chr7:3901400-3902000	Enhancers	Right Atrium	heart

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