Variant report

Variant	esv3336748
Chromosome Location	chr7:39298327-39302025
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	chr7:39297978..39300684-chr7:39305823..39308386,2	K562	blood:

Extended variants
information (count: 180 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:180 , 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	rs566511651	chr7:39298343-39298344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532578125	chr7:39298344-39298345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147130130	chr7:39298346-39298347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569286077	chr7:39298424-39298425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577290638	chr7:39298462-39298463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540579373	chr7:39298487-39298488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568281788	chr7:39298494-39298495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534067553	chr7:39298534-39298535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140342691	chr7:39298542-39298543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4294089	chr7:39298546-39298547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
11	rs75878354	chr7:39298547-39298548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555896566	chr7:39298618-39298619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569310521	chr7:39298754-39298755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149858682	chr7:39298755-39298756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71529409	chr7:39298756-39298757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371749277	chr7:39298757-39298758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576054007	chr7:39298806-39298807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541583117	chr7:39298808-39298809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561124815	chr7:39298836-39298837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114418463	chr7:39298860-39298861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149317424	chr7:39298899-39298900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374472243	chr7:39298922-39298923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367746880	chr7:39298948-39298949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35880278	chr7:39298973-39298974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144642767	chr7:39298993-39298994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532695696	chr7:39298997-39298998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148485328	chr7:39299009-39299010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190572026	chr7:39299028-39299029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181687467	chr7:39299044-39299045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548725100	chr7:39299075-39299076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186169463	chr7:39299089-39299090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534029551	chr7:39299094-39299095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549603314	chr7:39299095-39299096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547619183	chr7:39299148-39299149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191032031	chr7:39299152-39299153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539368183	chr7:39299158-39299159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556097570	chr7:39299169-39299170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368479911	chr7:39299205-39299206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115069711	chr7:39299207-39299208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183299302	chr7:39299220-39299221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114802926	chr7:39299257-39299258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531895994	chr7:39299282-39299283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561193505	chr7:39299293-39299294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75801621	chr7:39299301-39299302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546288692	chr7:39299310-39299311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113718989	chr7:39299330-39299331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560321992	chr7:39299345-39299346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73126485	chr7:39299374-39299375	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs546199480	chr7:39299375-39299376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73695224	chr7:39299405-39299406	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

Disease	PMID	Source
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
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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39293000-39298400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:39293000-39299800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:39293600-39298600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:39293800-39310600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:39297000-39299200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:39297400-39298400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:39298000-39299000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:39298000-39299200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:39298000-39299800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:39298200-39298400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:39298200-39299200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:39298200-39299600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:39298400-39298800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:39298400-39298800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:39298400-39299000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr7:39298400-39299600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr7:39298600-39299200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr7:39298800-39299600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:39299000-39299600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:39299000-39299800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:39299200-39304600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:39299200-39304600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:39299400-39299800	Enhancers	Spleen	Spleen
24	chr7:39299400-39301000	Enhancers	Gastric	stomach
25	chr7:39299600-39299800	Bivalent/Poised TSS	Fetal Lung	lung
26	chr7:39299600-39300400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
27	chr7:39299600-39300600	ZNF genes & repeats	Fetal Kidney	kidney
28	chr7:39299600-39300800	ZNF genes & repeats	Pancreas	Pancrea
29	chr7:39299600-39304800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:39299800-39300200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:39299800-39300400	Active TSS	Spleen	Spleen
32	chr7:39299800-39304000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:39299800-39305800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:39300000-39300400	Bivalent/Poised TSS	Fetal Lung	lung
35	chr7:39300200-39303600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:39300400-39305200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr7:39300600-39300800	Enhancers	Fetal Brain Male	brain
38	chr7:39301000-39301800	Weak transcription	Gastric	stomach
39	chr7:39301000-39310600	Weak transcription	Fetal Brain Male	brain
40	chr7:39301800-39302000	Enhancers	Gastric	stomach

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