Variant report

Variant	nsv1032031
Chromosome Location	chr7:3554760-3609584
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3581196..3583334-chr7:3583848..3586419,2	K562	blood:
2	chr7:3581196..3583334-chr7:3583848..3586419,2	K562	blood:
3	chr6:34331825..34332645-chr7:3565574..3566479,2	MCF-7	breast:
4	chr7:3598045..3599826-chr7:3607481..3609986,2	K562	blood:
5	chr7:3609002..3610756-chr7:3616407..3619133,2	MCF-7	breast:
6	chr7:3546340..3548906-chr7:3559233..3561540,2	MCF-7	breast:
7	chr7:3553060..3555067-chr7:3563741..3566106,2	MCF-7	breast:
8	chr7:3577804..3580555-chr7:3590884..3593146,2	MCF-7	breast:
9	chr7:3608810..3611760-chr7:3613102..3614702,2	MCF-7	breast:
10	chr7:3555349..3557729-chr7:3560043..3561605,2	K562	blood:
11	chr7:3596799..3598779-chr7:3598841..3601044,2	K562	blood:
12	chr7:3596799..3598779-chr7:3598841..3601044,2	K562	blood:
13	chr7:3553060..3555067-chr7:3563741..3566106,2	MCF-7	breast:
14	chr7:3555349..3557729-chr7:3560043..3561605,2	K562	blood:
15	chr7:3598045..3599826-chr7:3607481..3609986,2	K562	blood:
16	chr7:3551543..3553743-chr7:3556409..3559283,2	MCF-7	breast:
17	chr7:3577804..3580555-chr7:3590884..3593146,2	MCF-7	breast:
18	chr7:3551947..3554691-chr7:3562735..3565041,2	MCF-7	breast:

No data

Extended variants
information (count: 3369 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:3369 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186072642	chr7:3554804-3554805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562313327	chr7:3554819-3554820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs151281774	chr7:3554857-3554858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189337103	chr7:3554867-3554868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182326300	chr7:3554925-3554926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539115347	chr7:3554926-3554927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546201381	chr7:3554931-3554932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139304917	chr7:3554959-3554960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545365568	chr7:3554969-3554970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555370084	chr7:3554984-3554985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544223290	chr7:3555011-3555012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575436440	chr7:3555025-3555026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537628255	chr7:3555030-3555031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557456628	chr7:3555032-3555033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577436751	chr7:3555055-3555056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546286528	chr7:3555065-3555066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553414034	chr7:3555081-3555082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149994367	chr7:3555106-3555107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542557992	chr7:3555107-3555108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186528982	chr7:3555110-3555111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530339080	chr7:3555146-3555147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191114573	chr7:3555177-3555178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544498445	chr7:3555180-3555181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117691220	chr7:3555197-3555198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182905360	chr7:3555254-3555255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546241020	chr7:3555274-3555275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538902670	chr7:3555307-3555308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186126472	chr7:3555311-3555312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528871408	chr7:3555327-3555328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560311981	chr7:3555380-3555381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549292841	chr7:3555402-3555403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557445346	chr7:3555415-3555416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572808991	chr7:3555426-3555427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557684398	chr7:3555431-3555432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146535258	chr7:3555435-3555436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141448969	chr7:3555450-3555451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2686851	chr7:3555462-3555463	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs60268542	chr7:3555471-3555472	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541844625	chr7:3555475-3555476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145143455	chr7:3555521-3555522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190057128	chr7:3555529-3555530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146873449	chr7:3555546-3555547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374884081	chr7:3555607-3555608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148987749	chr7:3555617-3555618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113089555	chr7:3555639-3555640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539978289	chr7:3555649-3555650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143760661	chr7:3555659-3555660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528910207	chr7:3555716-3555717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs61018893	chr7:3555749-3555750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554901019	chr7:3555750-3555751	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:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3549400-3577000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:3550800-3557200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:3551600-3557000	Weak transcription	Pancreas	Pancrea
4	chr7:3554400-3555200	Enhancers	Fetal Brain Male	brain
5	chr7:3554600-3554800	Enhancers	Aorta	Aorta
6	chr7:3554600-3555800	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr7:3554800-3563000	Weak transcription	Aorta	Aorta
8	chr7:3555800-3556200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:3556200-3557600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:3556200-3559800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr7:3557000-3557400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:3557000-3557400	Enhancers	Primary T cells from cord blood	blood
13	chr7:3557000-3557400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr7:3557000-3557400	Enhancers	Pancreas	Pancrea
15	chr7:3557000-3557600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr7:3557000-3557600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr7:3557200-3557400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:3557200-3557400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:3557200-3557400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
20	chr7:3557200-3557600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:3557400-3559600	Weak transcription	Primary T cells from cord blood	blood
22	chr7:3557400-3559800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr7:3557400-3560600	Weak transcription	Pancreas	Pancrea
24	chr7:3557600-3559600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:3557600-3562800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr7:3558800-3559000	Enhancers	Colon Smooth Muscle	Colon
27	chr7:3559000-3560000	Weak transcription	Colon Smooth Muscle	Colon
28	chr7:3559600-3560200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:3559600-3560400	Enhancers	HepG2	liver
30	chr7:3559600-3560600	Enhancers	Primary T cells from cord blood	blood
31	chr7:3559600-3560800	Enhancers	Fetal Heart	heart
32	chr7:3559600-3560800	Enhancers	Fetal Intestine Large	intestine
33	chr7:3559800-3560200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr7:3559800-3560200	Enhancers	Fetal Lung	lung
35	chr7:3559800-3560800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr7:3560000-3560800	Enhancers	Colon Smooth Muscle	Colon
37	chr7:3560000-3561000	Enhancers	Stomach Mucosa	stomach
38	chr7:3560200-3560400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr7:3560200-3560600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:3560400-3561600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr7:3560600-3560800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:3560600-3561000	Enhancers	Pancreas	Pancrea
43	chr7:3560800-3561600	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:3560800-3561800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:3561000-3562200	Weak transcription	Pancreas	Pancrea
46	chr7:3561600-3561800	Enhancers	Colon Smooth Muscle	Colon
47	chr7:3561600-3562600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr7:3561800-3563600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:3562200-3563200	Enhancers	Pancreas	Pancrea
50	chr7:3562600-3565000	Enhancers	Pancreatic Islets	Pancreatic Islet

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