Variant report

Variant	esv2483378
Chromosome Location	chr7:84108338-84109715
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:84107857..84110395-chr7:84114744..84117396,2	K562	blood:
2	chr7:83568691..83570764-chr7:84108131..84110174,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183547465	chr7:84108398-84108399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536879220	chr7:84108410-84108411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548780680	chr7:84108481-84108482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142594174	chr7:84108568-84108569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534605035	chr7:84108575-84108576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552805987	chr7:84108625-84108626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571215946	chr7:84108645-84108646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2715034	chr7:84108661-84108662	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs539017974	chr7:84108664-84108665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557210769	chr7:84108673-84108674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540707882	chr7:84108721-84108722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575711471	chr7:84108734-84108735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543117445	chr7:84108773-84108774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561471481	chr7:84108781-84108782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117975677	chr7:84108782-84108783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540969534	chr7:84108784-84108785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565569623	chr7:84108789-84108790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532817711	chr7:84108790-84108791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551340045	chr7:84108800-84108801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563102743	chr7:84108804-84108805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17159078	chr7:84108818-84108819	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536987548	chr7:84108833-84108834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187424362	chr7:84108848-84108849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534498084	chr7:84108856-84108857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376053480	chr7:84108932-84108933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190043153	chr7:84108958-84108959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571494705	chr7:84108997-84108998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563475445	chr7:84109209-84109210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142844742	chr7:84109210-84109211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567078736	chr7:84109267-84109268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17159079	chr7:84109268-84109269	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs535700480	chr7:84109277-84109278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138998935	chr7:84109312-84109313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568078095	chr7:84109317-84109318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575665551	chr7:84109330-84109331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536755037	chr7:84109346-84109347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555091659	chr7:84109348-84109349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573524074	chr7:84109379-84109380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182631818	chr7:84109447-84109448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186636734	chr7:84109512-84109513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577480589	chr7:84109518-84109519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544549527	chr7:84109539-84109540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563298253	chr7:84109559-84109560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530383508	chr7:84109560-84109561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141426774	chr7:84109563-84109564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560644737	chr7:84109592-84109593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527566804	chr7:84109608-84109609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150410516	chr7:84109652-84109653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17159080	chr7:84109676-84109677	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs138204065	chr7:84109684-84109685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84107000-84109600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:84107000-84109600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr7:84107200-84109800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr7:84107600-84108600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:84107600-84108600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:84107600-84108600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:84107600-84114800	Weak transcription	NHDF-Ad	bronchial
8	chr7:84107600-84116600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:84108000-84108400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:84108000-84108400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:84108200-84109600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:84108400-84109400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:84108400-84109800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:84108600-84108800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:84108600-84108800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:84108600-84109600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:84109200-84120000	Weak transcription	Fetal Muscle Trunk	muscle

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