Variant report

Variant	esv1792280
Chromosome Location	chr7:3592290-3668229
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3650446..3652502-chr7:3655244..3656781,2	MCF-7	breast:
2	chr7:3609002..3610756-chr7:3616407..3619133,2	MCF-7	breast:
3	chr7:3624042..3625672-chr7:3626577..3628999,2	MCF-7	breast:
4	chr7:3609002..3610756-chr7:3616407..3619133,2	MCF-7	breast:
5	chr7:3624042..3625672-chr7:3626577..3628999,2	MCF-7	breast:
6	chr7:3577804..3580555-chr7:3590884..3593146,2	MCF-7	breast:
7	chr7:3608810..3611760-chr7:3613102..3614702,2	MCF-7	breast:
8	chr7:3610768..3613073-chr7:3628327..3630622,2	MCF-7	breast:
9	chr7:3596799..3598779-chr7:3598841..3601044,2	K562	blood:
10	chr7:3657416..3659816-chr7:3660917..3663637,2	K562	blood:
11	chr7:3598045..3599826-chr7:3607481..3609986,2	K562	blood:
12	chr7:3650446..3652502-chr7:3655244..3656781,2	MCF-7	breast:
13	chr7:3598045..3599826-chr7:3607481..3609986,2	K562	blood:
14	chr7:3657416..3659816-chr7:3660917..3663637,2	K562	blood:
15	chr7:3608810..3611760-chr7:3613102..3614702,2	MCF-7	breast:
16	chr7:3596799..3598779-chr7:3598841..3601044,2	K562	blood:
17	chr7:3610768..3613073-chr7:3628327..3630622,2	MCF-7	breast:
18	chr7:3666241..3668989-chr7:3678664..3681539,2	MCF-7	breast:
19	chr7:3521696..3522495-chr7:3631928..3632648,2	MCF-7	breast:

No data

Extended variants
information (count: 5014 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:5014 , 50 per page) page: 1 2 3 4 5 6 7 ... 101

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181221770	chr7:3592291-3592292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140507276	chr7:3592318-3592319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533458081	chr7:3592365-3592366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75058793	chr7:3592368-3592369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138200923	chr7:3592393-3592394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73296260	chr7:3592416-3592417	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs549713441	chr7:3592444-3592445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569554998	chr7:3592473-3592474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538467062	chr7:3592475-3592476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79632474	chr7:3592507-3592508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533894846	chr7:3592515-3592516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575310233	chr7:3592524-3592525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142379669	chr7:3592537-3592538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535832802	chr7:3592557-3592558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368621487	chr7:3592568-3592569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575929097	chr7:3592583-3592584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs57628119	chr7:3592584-3592585	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs565099954	chr7:3592601-3592602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371548497	chr7:3592635-3592636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146354099	chr7:3592679-3592680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540741252	chr7:3592699-3592700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560350147	chr7:3592738-3592739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555531308	chr7:3592745-3592746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375967991	chr7:3592792-3592793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549373178	chr7:3592833-3592834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112656664	chr7:3592866-3592867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369264845	chr7:3592875-3592876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117659097	chr7:3592885-3592886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186247530	chr7:3592887-3592888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574176513	chr7:3592895-3592896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541579518	chr7:3592917-3592918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547507622	chr7:3592924-3592925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567002160	chr7:3592968-3592969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531459896	chr7:3592973-3592974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559766892	chr7:3592978-3592979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143269820	chr7:3592988-3592989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541890022	chr7:3593004-3593005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575592969	chr7:3593007-3593008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538928201	chr7:3593008-3593009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558543411	chr7:3593057-3593058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188615942	chr7:3593116-3593117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540852224	chr7:3593130-3593131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144793400	chr7:3593146-3593147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574176239	chr7:3593153-3593154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533393935	chr7:3593160-3593161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543082409	chr7:3593165-3593166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563545708	chr7:3593169-3593170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562878246	chr7:3593199-3593200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545348576	chr7:3593238-3593239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148148848	chr7:3593255-3593256	Enhancers 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
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	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3577600-3600200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:3578800-3593200	Weak transcription	Aorta	Aorta
3	chr7:3586400-3593400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:3587600-3593000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:3588800-3593000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:3588800-3598000	Weak transcription	Gastric	stomach
7	chr7:3589800-3593200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:3590200-3592400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:3590200-3593200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:3590400-3593000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:3592000-3592400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:3592000-3592400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:3592000-3592400	Enhancers	NH-A	brain
14	chr7:3592000-3592600	Enhancers	Stomach Mucosa	stomach
15	chr7:3592000-3593200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:3592200-3592400	Enhancers	NHEK	skin
17	chr7:3592200-3593400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:3592200-3593400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr7:3592400-3593600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr7:3592400-3597600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr7:3593000-3593400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:3593000-3593400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:3593000-3593600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:3593000-3593800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr7:3593200-3593400	Enhancers	Aorta	Aorta
26	chr7:3593200-3593600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr7:3593200-3593800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:3593400-3593600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:3593400-3593600	Weak transcription	Aorta	Aorta
30	chr7:3593600-3597000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:3594800-3595000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:3594800-3595600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:3595000-3597800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:3595600-3599200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:3597000-3597200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:3597200-3597600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:3597400-3599800	Enhancers	Fetal Lung	lung
38	chr7:3597600-3597800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:3597600-3598400	Enhancers	Fetal Muscle Leg	muscle
40	chr7:3597600-3598400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr7:3597600-3598600	Enhancers	Fetal Intestine Small	intestine
42	chr7:3597600-3598800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr7:3597600-3598800	Enhancers	HUVEC	blood vessel
44	chr7:3597600-3599200	Enhancers	Fetal Stomach	stomach
45	chr7:3597600-3599600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr7:3597800-3598800	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr7:3597800-3599600	Enhancers	HSMM	muscle
48	chr7:3597800-3599800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:3597800-3600200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:3598000-3598200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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