Variant report

Variant	esv3430927
Chromosome Location	chr7:66844117-66847215
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	chr7:66840245..66841805-chr7:66844948..66846496,2	MCF-7	breast:

Extended variants
information (count: 160 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6947353	chr7:66844153-66844154	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556744701	chr7:66844162-66844163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143955463	chr7:66844195-66844196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544172030	chr7:66844233-66844234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542480941	chr7:66844248-66844249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11768598	chr7:66844253-66844254	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs186358414	chr7:66844255-66844256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368994350	chr7:66844260-66844261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540992616	chr7:66844308-66844309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571305247	chr7:66844362-66844363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538903210	chr7:66844369-66844370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140835835	chr7:66844401-66844402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561002176	chr7:66844410-66844411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563283383	chr7:66844411-66844412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529038062	chr7:66844412-66844413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372876801	chr7:66844427-66844428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114202306	chr7:66844432-66844433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568511176	chr7:66844444-66844445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149846023	chr7:66844456-66844457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547726505	chr7:66844489-66844490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529759055	chr7:66844494-66844495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190649655	chr7:66844562-66844563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375880335	chr7:66844573-66844574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549939905	chr7:66844575-66844576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2017374	chr7:66844627-66844628	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs556889616	chr7:66844628-66844629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75455975	chr7:66844664-66844665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
28	rs2017343	chr7:66844667-66844668	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs555706708	chr7:66844681-66844682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572074441	chr7:66844689-66844690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540778624	chr7:66844776-66844777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377103598	chr7:66844781-66844782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577208700	chr7:66844784-66844785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182774839	chr7:66844816-66844817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548007930	chr7:66844827-66844828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528527867	chr7:66844877-66844878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543048266	chr7:66844910-66844911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563219096	chr7:66845016-66845017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376470814	chr7:66845017-66845018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371221751	chr7:66845026-66845027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4256486	chr7:66845040-66845041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542770910	chr7:66845066-66845067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187685353	chr7:66845114-66845115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527735635	chr7:66845131-66845132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547574847	chr7:66845163-66845164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571000284	chr7:66845219-66845220	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4718544	chr7:66845239-66845240	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs4718545	chr7:66845243-66845244	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs4718546	chr7:66845309-66845310	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs4718547	chr7:66845363-66845364	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:90)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	20668451	CNVD
Prostate cancer	20601956	CNVD
Nasopharyngeal cancer	22815911	CNVD
Prostate cancer	21248069	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Prostate cancer	17297502	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66842800-66844200	Enhancers	Fetal Muscle Leg	muscle
2	chr7:66843000-66847200	Enhancers	Fetal Stomach	stomach
3	chr7:66843800-66844800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:66843800-66845000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:66843800-66845000	Weak transcription	Fetal Lung	lung
6	chr7:66843800-66845400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:66843800-66845400	Weak transcription	Spleen	Spleen
8	chr7:66844000-66845000	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:66844000-66845000	Weak transcription	Ovary	ovary
10	chr7:66844200-66844800	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:66844800-66845000	Enhancers	Fetal Muscle Leg	muscle
12	chr7:66844800-66845400	Enhancers	Stomach Smooth Muscle	stomach
13	chr7:66845000-66845200	Enhancers	Colon Smooth Muscle	Colon
14	chr7:66845000-66845200	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr7:66845000-66845200	Enhancers	Fetal Lung	lung
16	chr7:66845200-66845400	Bivalent Enhancer	Fetal Lung	lung
17	chr7:66845200-66845400	Enhancers	Ovary	ovary
18	chr7:66845200-66845600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr7:66845200-66845600	ZNF genes & repeats	Fetal Kidney	kidney
20	chr7:66845200-66846200	Enhancers	Gastric	stomach
21	chr7:66845400-66845600	ZNF genes & repeats	Spleen	Spleen
22	chr7:66845400-66845800	Bivalent/Poised TSS	Fetal Lung	lung
23	chr7:66845400-66846200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:66845600-66846000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr7:66845600-66846200	Active TSS	Fetal Kidney	kidney
26	chr7:66846200-66846800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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