Variant report

Variant	esv1849153
Chromosome Location	chr7:53181860-53235318
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:53213709..53216589-chr7:53219355..53221202,2	MCF-7	breast:
2	chr17:25277426..25278160-chr7:53200570..53201453,2	MCF-7	breast:
3	chr7:53213709..53216589-chr7:53219355..53221202,2	MCF-7	breast:

Extended variants
information (count: 672 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558729891	chr7:53181918-53181919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569160960	chr7:53181956-53181957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538211835	chr7:53181968-53181969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145065057	chr7:53181993-53181994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6970154	chr7:53182000-53182001	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs555913651	chr7:53182004-53182005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200095179	chr7:53182028-53182029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150878479	chr7:53182031-53182032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553732482	chr7:53182038-53182039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6946688	chr7:53182039-53182040	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138918035	chr7:53182115-53182116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540177467	chr7:53182143-53182144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191697521	chr7:53182153-53182154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371509449	chr7:53182159-53182160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544569845	chr7:53182164-53182165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1525565	chr7:53182182-53182183	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs6593049	chr7:53182199-53182200	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs143786299	chr7:53182205-53182206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572635228	chr7:53182243-53182244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560529453	chr7:53182252-53182253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529442758	chr7:53182294-53182295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7799389	chr7:53182296-53182297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562963082	chr7:53182307-53182308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73109767	chr7:53182311-53182312	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs184201680	chr7:53182316-53182317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376344459	chr7:53182317-53182318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571667812	chr7:53182363-53182364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71517033	chr7:53182365-53182366	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs1357960	chr7:53182366-53182367	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs571485359	chr7:53182440-53182441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567354223	chr7:53182507-53182508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115862440	chr7:53182549-53182550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556000710	chr7:53182600-53182601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575767691	chr7:53182648-53182649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368262182	chr7:53182678-53182679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538324900	chr7:53182709-53182710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558170687	chr7:53182712-53182713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571665423	chr7:53182719-53182720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540573474	chr7:53182720-53182721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77732999	chr7:53182763-53182764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374862937	chr7:53182800-53182801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543237749	chr7:53182802-53182803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562917472	chr7:53182815-53182816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569439249	chr7:53182839-53182840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545511424	chr7:53182844-53182845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148165999	chr7:53182853-53182854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35450793	chr7:53182859-53182860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527640904	chr7:53182863-53182864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547399169	chr7:53182947-53182948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567518133	chr7:53182957-53182958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cognitive impairment	21505072	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53178400-53185800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:53179200-53182400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:53180400-53182400	Enhancers	Fetal Heart	heart
4	chr7:53180400-53182600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:53181600-53182800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:53181800-53182600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr7:53181800-53183800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:53182000-53183200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:53182000-53183400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:53182200-53182600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:53182200-53182600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:53182400-53182600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr7:53182400-53182800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr7:53182400-53183000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr7:53182400-53185000	Weak transcription	Fetal Heart	heart
16	chr7:53182600-53183000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr7:53182600-53183400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr7:53183000-53183400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr7:53185000-53185600	Enhancers	Fetal Heart	heart
20	chr7:53185600-53189200	Weak transcription	Fetal Heart	heart
21	chr7:53185600-53189400	Enhancers	HUVEC	blood vessel
22	chr7:53185800-53188400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:53186600-53188200	Enhancers	NH-A	brain
24	chr7:53187000-53187200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:53187200-53187800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:53187200-53187800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:53187400-53187800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr7:53187400-53187800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:53187400-53187800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:53187400-53187800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:53187400-53187800	Enhancers	Aorta	Aorta
32	chr7:53187400-53187800	Enhancers	Brain Germinal Matrix	brain
33	chr7:53187400-53187800	Enhancers	Ovary	ovary
34	chr7:53187400-53187800	Enhancers	Spleen	Spleen
35	chr7:53187800-53188000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:53188400-53188800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:53188800-53189600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:53189200-53189400	Enhancers	Fetal Heart	heart
39	chr7:53189200-53189400	ZNF genes & repeats	Gastric	stomach
40	chr7:53189200-53189400	Enhancers	Left Ventricle	heart
41	chr7:53189600-53190200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:53190200-53190400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:53193800-53194400	Enhancers	Ovary	ovary
44	chr7:53202000-53202200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:53202200-53203400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:53203400-53203600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:53214000-53214400	Enhancers	Brain Germinal Matrix	brain
48	chr7:53214000-53215400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:53214200-53214400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:53220000-53220200	ZNF genes & repeats	Gastric	stomach

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