Variant report

Variant	esv3370790
Chromosome Location	chr7:71066516-71071414
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:71065066..71067992-chr7:71069546..71072115,3	MCF-7	breast:
2	chr7:71066016..71069657-chr7:71072660..71076246,4	K562	blood:
3	chr7:71065066..71067992-chr7:71069546..71072115,3	MCF-7	breast:

Extended variants
information (count: 204 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150648158	chr7:71066547-71066548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs367715660	chr7:71066607-71066608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572067866	chr7:71066613-71066614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542635477	chr7:71066615-71066616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs940821	chr7:71066631-71066632	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs10247100	chr7:71066686-71066687	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs111622589	chr7:71066742-71066743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149782692	chr7:71066747-71066748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190610835	chr7:71066859-71066860	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs545285829	chr7:71066895-71066896	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs552764343	chr7:71066902-71066903	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs530796985	chr7:71066903-71066904	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs560895270	chr7:71066906-71066907	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs10237977	chr7:71066926-71066927	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs567416965	chr7:71066927-71066928	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs111693640	chr7:71066954-71066955	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs113513389	chr7:71066962-71066963	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs550345616	chr7:71067010-71067011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571787441	chr7:71067012-71067013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183163665	chr7:71067036-71067037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547657129	chr7:71067062-71067063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185626124	chr7:71067071-71067072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566049469	chr7:71067073-71067074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75766850	chr7:71067144-71067145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34598502	chr7:71067193-71067194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533919505	chr7:71067209-71067210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576481059	chr7:71067243-71067244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537192699	chr7:71067250-71067251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs59026100	chr7:71067276-71067277	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs531983713	chr7:71067279-71067280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35840628	chr7:71067394-71067395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34636742	chr7:71067418-71067419	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs557013787	chr7:71067442-71067443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560452138	chr7:71067471-71067472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572400882	chr7:71067522-71067523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146249211	chr7:71067577-71067578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79316080	chr7:71067581-71067582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531425725	chr7:71067586-71067587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139841563	chr7:71067648-71067649	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374188469	chr7:71067655-71067656	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548836567	chr7:71067669-71067670	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374608697	chr7:71067684-71067685	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs56355637	chr7:71067687-71067688	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs532535484	chr7:71067701-71067702	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547618404	chr7:71067786-71067787	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73702233	chr7:71067806-71067807	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs147846555	chr7:71067880-71067881	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs569912476	chr7:71067881-71067882	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs537459293	chr7:71067883-71067884	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs35223636	chr7:71067931-71067932	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

Disease	PMID	Source
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
Wilms tumour	21544195	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
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
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	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
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71024800-71079400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:71034800-71070000	Weak transcription	Ovary	ovary
3	chr7:71053800-71075400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:71054200-71077200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:71061000-71066800	Weak transcription	HSMM	muscle
6	chr7:71061000-71067600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:71061000-71068400	Weak transcription	Aorta	Aorta
8	chr7:71065600-71066600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:71066400-71066800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:71066400-71067000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:71066400-71067600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:71066400-71067600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:71066400-71067800	Enhancers	Fetal Muscle Leg	muscle
14	chr7:71066600-71067400	Enhancers	Fetal Muscle Trunk	muscle
15	chr7:71066800-71067000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr7:71066800-71067400	Enhancers	Fetal Stomach	stomach
17	chr7:71066800-71067600	Enhancers	HSMM	muscle
18	chr7:71067200-71077000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:71067600-71068400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:71067600-71068800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:71067600-71069600	Weak transcription	HSMM	muscle
22	chr7:71068000-71068200	Weak transcription	Fetal Lung	lung
23	chr7:71068400-71068800	ZNF genes & repeats	Aorta	Aorta
24	chr7:71068400-71068800	ZNF genes & repeats	Fetal Lung	lung
25	chr7:71068400-71068800	ZNF genes & repeats	Gastric	stomach
26	chr7:71068400-71069400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:71068400-71069400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr7:71068800-71071200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:71068800-71071800	Weak transcription	Fetal Lung	lung
30	chr7:71068800-71075200	Weak transcription	Aorta	Aorta
31	chr7:71069400-71071400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:71069600-71070400	Enhancers	HSMM	muscle
33	chr7:71069600-71070400	Enhancers	HSMMtube	muscle
34	chr7:71069800-71070000	Enhancers	Fetal Muscle Leg	muscle
35	chr7:71070000-71070200	Strong transcription	Ovary	ovary
36	chr7:71070200-71075200	Weak transcription	Ovary	ovary
37	chr7:71071200-71072600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:71071400-71076000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links