Variant report

Variant	nsv605906
Chromosome Location	chr7:3559826-3605340
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3577804..3580555-chr7:3590884..3593146,2	MCF-7	breast:
2	chr7:3555349..3557729-chr7:3560043..3561605,2	K562	blood:
3	chr7:3598045..3599826-chr7:3607481..3609986,2	K562	blood:
4	chr7:3577804..3580555-chr7:3590884..3593146,2	MCF-7	breast:
5	chr7:3596799..3598779-chr7:3598841..3601044,2	K562	blood:
6	chr6:34331825..34332645-chr7:3565574..3566479,2	MCF-7	breast:
7	chr7:3581196..3583334-chr7:3583848..3586419,2	K562	blood:
8	chr7:3551947..3554691-chr7:3562735..3565041,2	MCF-7	breast:
9	chr7:3596799..3598779-chr7:3598841..3601044,2	K562	blood:
10	chr7:3546340..3548906-chr7:3559233..3561540,2	MCF-7	breast:
11	chr7:3581196..3583334-chr7:3583848..3586419,2	K562	blood:
12	chr7:3553060..3555067-chr7:3563741..3566106,2	MCF-7	breast:

No data

Extended variants
information (count: 2832 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2832 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2705608	chr7:3559826-3559827	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376397554	chr7:3559827-3559828	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs371155287	chr7:3559846-3559847	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs183597471	chr7:3559860-3559861	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs150563462	chr7:3559874-3559875	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs376496229	chr7:3559881-3559882	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs557487532	chr7:3559888-3559889	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs12672248	chr7:3559904-3559905	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546202676	chr7:3559922-3559923	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs367575409	chr7:3559940-3559941	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs188455113	chr7:3559964-3559965	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs138567819	chr7:3559978-3559979	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs141725684	chr7:3559985-3559986	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs146099860	chr7:3560003-3560004	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs530996581	chr7:3560007-3560008	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs543933780	chr7:3560008-3560009	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs371811674	chr7:3560025-3560026	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs1922017	chr7:3560033-3560034	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557018308	chr7:3560043-3560044	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs532830594	chr7:3560044-3560045	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs140075512	chr7:3560051-3560052	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs534184970	chr7:3560091-3560092	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs560047955	chr7:3560094-3560095	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs529184946	chr7:3560097-3560098	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs199745074	chr7:3560108-3560109	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs181899738	chr7:3560120-3560121	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs569121046	chr7:3560183-3560184	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs538016521	chr7:3560204-3560205	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs1882427	chr7:3560218-3560219	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1882428	chr7:3560221-3560222	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs143629574	chr7:3560274-3560275	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs559300979	chr7:3560287-3560288	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs5881989	chr7:3560296-3560297	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs372421265	chr7:3560299-3560300	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs553093170	chr7:3560311-3560312	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs185046414	chr7:3560313-3560314	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs190151717	chr7:3560317-3560318	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs181537876	chr7:3560324-3560325	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs551638456	chr7:3560354-3560355	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs187013726	chr7:3560357-3560358	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs190997203	chr7:3560381-3560382	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs564313738	chr7:3560394-3560395	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs1922018	chr7:3560401-3560402	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs548774789	chr7:3560438-3560439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs55933090	chr7:3560439-3560440	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs559935618	chr7:3560446-3560447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201914529	chr7:3560459-3560460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528879597	chr7:3560467-3560468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115707164	chr7:3560492-3560493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547614794	chr7:3560496-3560497	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:271 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3549400-3577000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:3554800-3563000	Weak transcription	Aorta	Aorta
3	chr7:3557400-3560600	Weak transcription	Pancreas	Pancrea
4	chr7:3557600-3562800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:3559000-3560000	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:3559600-3560200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:3559600-3560400	Enhancers	HepG2	liver
8	chr7:3559600-3560600	Enhancers	Primary T cells from cord blood	blood
9	chr7:3559600-3560800	Enhancers	Fetal Heart	heart
10	chr7:3559600-3560800	Enhancers	Fetal Intestine Large	intestine
11	chr7:3559800-3560200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr7:3559800-3560200	Enhancers	Fetal Lung	lung
13	chr7:3559800-3560800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr7:3560000-3560800	Enhancers	Colon Smooth Muscle	Colon
15	chr7:3560000-3561000	Enhancers	Stomach Mucosa	stomach
16	chr7:3560200-3560400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr7:3560200-3560600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:3560400-3561600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr7:3560600-3560800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:3560600-3561000	Enhancers	Pancreas	Pancrea
21	chr7:3560800-3561600	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:3560800-3561800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:3561000-3562200	Weak transcription	Pancreas	Pancrea
24	chr7:3561600-3561800	Enhancers	Colon Smooth Muscle	Colon
25	chr7:3561600-3562600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:3561800-3563600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:3562200-3563200	Enhancers	Pancreas	Pancrea
28	chr7:3562600-3565000	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr7:3562800-3564200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr7:3563000-3563800	Enhancers	Aorta	Aorta
31	chr7:3563200-3564800	Weak transcription	Pancreas	Pancrea
32	chr7:3563200-3567000	Weak transcription	Gastric	stomach
33	chr7:3564000-3564400	Enhancers	Fetal Brain Male	brain
34	chr7:3564400-3564600	Weak transcription	Fetal Brain Male	brain
35	chr7:3564600-3567400	Enhancers	Fetal Brain Male	brain
36	chr7:3564800-3565200	Enhancers	Pancreas	Pancrea
37	chr7:3565000-3565200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:3565000-3566400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr7:3565200-3567000	Weak transcription	Pancreas	Pancrea
40	chr7:3565200-3568000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:3566400-3567200	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr7:3566400-3567200	Enhancers	Fetal Stomach	stomach
43	chr7:3567000-3567400	Weak transcription	Spleen	Spleen
44	chr7:3567000-3567600	Enhancers	Gastric	stomach
45	chr7:3567000-3567600	Enhancers	Pancreas	Pancrea
46	chr7:3567200-3567400	Enhancers	Right Ventricle	heart
47	chr7:3567200-3569200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr7:3567400-3567600	Enhancers	Spleen	Spleen
49	chr7:3567600-3568200	Weak transcription	Pancreas	Pancrea
50	chr7:3567600-3572000	Weak transcription	Gastric	stomach

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