Variant report

Variant	esv1840932
Chromosome Location	chr7:3585560-3618827
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	chr7:3598045..3599826-chr7:3607481..3609986,2	K562	blood:
2	chr7:3577804..3580555-chr7:3590884..3593146,2	MCF-7	breast:
3	chr7:3581196..3583334-chr7:3583848..3586419,2	K562	blood:
4	chr7:3608810..3611760-chr7:3613102..3614702,2	MCF-7	breast:
5	chr7:3596799..3598779-chr7:3598841..3601044,2	K562	blood:
6	chr7:3609002..3610756-chr7:3616407..3619133,2	MCF-7	breast:
7	chr7:3610768..3613073-chr7:3628327..3630622,2	MCF-7	breast:
8	chr7:3598045..3599826-chr7:3607481..3609986,2	K562	blood:
9	chr7:3609002..3610756-chr7:3616407..3619133,2	MCF-7	breast:
10	chr7:3596799..3598779-chr7:3598841..3601044,2	K562	blood:
11	chr7:3608810..3611760-chr7:3613102..3614702,2	MCF-7	breast:

No data

Extended variants
information (count: 2180 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2180 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17133545	chr7:3585560-3585561	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567911310	chr7:3585569-3585570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187547823	chr7:3585586-3585587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377206878	chr7:3585588-3585589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191138951	chr7:3585589-3585590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138321076	chr7:3585608-3585609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75772214	chr7:3585618-3585619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565397164	chr7:3585663-3585664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78368467	chr7:3585664-3585665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182634192	chr7:3585671-3585672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574675543	chr7:3585688-3585689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537365395	chr7:3585692-3585693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556945647	chr7:3585693-3585694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577113640	chr7:3585695-3585696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549838143	chr7:3585707-3585708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553797696	chr7:3585716-3585717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188893767	chr7:3585781-3585782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115476616	chr7:3585798-3585799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548629371	chr7:3585823-3585824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541095183	chr7:3585837-3585838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146064100	chr7:3585850-3585851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530009604	chr7:3585856-3585857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550472777	chr7:3585881-3585882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563784184	chr7:3585887-3585888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10250397	chr7:3585902-3585903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146259452	chr7:3585907-3585908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs59862931	chr7:3585909-3585910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537244132	chr7:3585914-3585915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552345542	chr7:3585926-3585927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139709137	chr7:3585957-3585958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73296242	chr7:3585960-3585961	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs547940198	chr7:3585965-3585966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576867943	chr7:3586002-3586003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568067748	chr7:3586028-3586029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115938663	chr7:3586060-3586061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557229554	chr7:3586087-3586088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116230140	chr7:3586096-3586097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs193101837	chr7:3586105-3586106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539690905	chr7:3586210-3586211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565226594	chr7:3586248-3586249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184325924	chr7:3586275-3586276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs58108083	chr7:3586286-3586287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572606997	chr7:3586292-3586293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574950218	chr7:3586294-3586295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115408072	chr7:3586330-3586331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73296244	chr7:3586340-3586341	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs114610914	chr7:3586342-3586343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543413127	chr7:3586359-3586360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144864879	chr7:3586384-3586385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560251463	chr7:3586442-3586443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3577600-3600200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:3578800-3588600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:3578800-3593200	Weak transcription	Aorta	Aorta
4	chr7:3584600-3587200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:3584800-3588600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:3585000-3588400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr7:3585200-3586200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:3585400-3590000	Weak transcription	Pancreas	Pancrea
9	chr7:3586200-3586400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:3586400-3593400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:3587200-3587600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr7:3587200-3588000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:3587200-3588000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:3587200-3588400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:3587400-3587600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr7:3587400-3588400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr7:3587400-3589600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:3587400-3589800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr7:3587400-3590200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:3587600-3593000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:3588000-3588200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr7:3588000-3588200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr7:3588000-3589200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:3588200-3588600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:3588200-3588800	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr7:3588200-3589200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:3588200-3590200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr7:3588400-3588800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr7:3588400-3588800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr7:3588400-3589000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr7:3588600-3588800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:3588600-3588800	Enhancers	Gastric	stomach
33	chr7:3588600-3589000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr7:3588600-3590200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr7:3588800-3589000	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr7:3588800-3589200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr7:3588800-3589600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:3588800-3589800	Enhancers	Fetal Lung	lung
39	chr7:3588800-3590200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr7:3588800-3593000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:3588800-3598000	Weak transcription	Gastric	stomach
42	chr7:3589000-3589400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr7:3589000-3590200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr7:3589000-3590400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr7:3589200-3589600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:3589200-3590000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr7:3589200-3590400	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr7:3589400-3591000	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr7:3589600-3589800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:3589600-3592000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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