Variant report

Variant	nsv464270
Chromosome Location	chr7:3490865-3581357
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3546340..3548906-chr7:3559233..3561540,2	MCF-7	breast:
2	chr7:3525893..3527972-chr7:3528761..3530519,2	K562	blood:
3	chr7:3537080..3539372-chr7:3543955..3546696,2	MCF-7	breast:
4	chr7:3555349..3557729-chr7:3560043..3561605,2	K562	blood:
5	chr7:3546340..3548906-chr7:3559233..3561540,2	MCF-7	breast:
6	chr7:3551947..3554691-chr7:3562735..3565041,2	MCF-7	breast:
7	chr7:3439202..3440208-chr7:3521793..3522518,3	MCF-7	breast:
8	chr7:3551947..3554691-chr7:3562735..3565041,2	MCF-7	breast:
9	chr7:3551543..3553743-chr7:3556409..3559283,2	MCF-7	breast:
10	chr7:3521340..3522302-chr7:4671144..4671918,2	MCF-7	breast:
11	chr7:3555349..3557729-chr7:3560043..3561605,2	K562	blood:
12	chr7:3537080..3539372-chr7:3543955..3546696,2	MCF-7	breast:
13	chr7:3528452..3531258-chr7:3533365..3536191,2	MCF-7	breast:
14	chr7:3553060..3555067-chr7:3563741..3566106,2	MCF-7	breast:
15	chr7:3551543..3553743-chr7:3556409..3559283,2	MCF-7	breast:
16	chr7:3581196..3583334-chr7:3583848..3586419,2	K562	blood:
17	chr7:3553060..3555067-chr7:3563741..3566106,2	MCF-7	breast:
18	chr7:3521823..3522640-chr7:3807742..3808264,2	MCF-7	breast:
19	chr7:3521696..3522495-chr7:3631928..3632648,2	MCF-7	breast:
20	chr7:3525893..3527972-chr7:3528761..3530519,2	K562	blood:
21	chr6:34331825..34332645-chr7:3565574..3566479,2	MCF-7	breast:
22	chr7:3577804..3580555-chr7:3590884..3593146,2	MCF-7	breast:
23	chr7:3528452..3531258-chr7:3533365..3536191,2	MCF-7	breast:
24	chr7:3522949..3523470-chr7:3687761..3688597,2	MCF-7	breast:
25	chr7:3521755..3523053-chr7:3688631..3689551,7	MCF-7	breast:

No data

Extended variants
information (count: 5433 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:5433 , 50 per page) page: 1 2 3 4 5 6 7 ... 109

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2178629	chr7:3490865-3490866	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547495959	chr7:3490873-3490874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575133544	chr7:3490883-3490884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73293200	chr7:3490893-3490894	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs563382668	chr7:3490896-3490897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532187426	chr7:3490919-3490920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545506043	chr7:3490920-3490921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139298619	chr7:3490938-3490939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528062523	chr7:3490975-3490976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149990932	chr7:3491013-3491014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145194446	chr7:3491046-3491047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184223591	chr7:3491067-3491068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188376366	chr7:3491078-3491079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570073017	chr7:3491093-3491094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565754731	chr7:3491096-3491097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558766399	chr7:3491097-3491098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566092945	chr7:3491102-3491103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73671823	chr7:3491116-3491117	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552315927	chr7:3491124-3491125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117864033	chr7:3491137-3491138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73293202	chr7:3491141-3491142	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs115535815	chr7:3491157-3491158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542424331	chr7:3491163-3491164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192176791	chr7:3491166-3491167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184020726	chr7:3491176-3491177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570564649	chr7:3491212-3491213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188755889	chr7:3491221-3491222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539077270	chr7:3491223-3491224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572834845	chr7:3491226-3491227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541381871	chr7:3491245-3491246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200770062	chr7:3491299-3491300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560716061	chr7:3491305-3491306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561650113	chr7:3491321-3491322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191861899	chr7:3491345-3491346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557171982	chr7:3491354-3491355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550376362	chr7:3491372-3491373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184248472	chr7:3491373-3491374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532960703	chr7:3491400-3491401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201922132	chr7:3491406-3491407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377304315	chr7:3491418-3491419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6971305	chr7:3491446-3491447	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs544723774	chr7:3491447-3491448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1522504	chr7:3491458-3491459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548557121	chr7:3491501-3491502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114230853	chr7:3491525-3491526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144886267	chr7:3491529-3491530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377377823	chr7:3491538-3491539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536631282	chr7:3491549-3491550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147931620	chr7:3491579-3491580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539644158	chr7:3491586-3491587	Weak transcription Enhancers	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
Nasopharyngeal cancer	20548289	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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3479600-3492600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:3480000-3508600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:3486000-3495200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:3489000-3492000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:3489000-3495600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:3489000-3496200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:3489000-3496400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:3489000-3496400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:3490800-3491000	Enhancers	Aorta	Aorta
10	chr7:3490800-3491200	Enhancers	Pancreas	Pancrea
11	chr7:3490800-3491600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:3491000-3496400	Weak transcription	Aorta	Aorta
13	chr7:3491200-3491400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr7:3491200-3491400	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr7:3491200-3526600	Weak transcription	Pancreas	Pancrea
16	chr7:3491400-3492000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr7:3491800-3492600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:3492000-3492200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr7:3492000-3494200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:3492200-3493000	Weak transcription	HSMM	muscle
21	chr7:3492200-3495000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:3492400-3492800	Enhancers	Spleen	Spleen
23	chr7:3492600-3493400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:3493000-3493600	Enhancers	HSMM	muscle
25	chr7:3493200-3493400	Enhancers	Fetal Muscle Leg	muscle
26	chr7:3493400-3496400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:3493600-3506000	Weak transcription	HSMM	muscle
28	chr7:3494200-3495000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:3494400-3497400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:3495000-3497000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:3495200-3496000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr7:3495200-3496200	Enhancers	NH-A	brain
33	chr7:3495600-3496800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr7:3496000-3507000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:3496200-3497000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:3496400-3496600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr7:3496400-3496600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr7:3496400-3497000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:3496400-3497000	ZNF genes & repeats	Aorta	Aorta
40	chr7:3496400-3497000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr7:3496600-3503200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:3497000-3501600	Weak transcription	Aorta	Aorta
43	chr7:3497000-3503200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:3497400-3503200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:3498800-3500600	Enhancers	Primary T cells from cord blood	blood
46	chr7:3499000-3499200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr7:3499000-3499200	Enhancers	Placenta Amnion	Placenta Amnion
48	chr7:3499000-3499400	Enhancers	Primary T cells fromperipheralblood	blood
49	chr7:3499000-3500600	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr7:3499000-3500800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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