Variant report

Variant	esv3442268
Chromosome Location	chr7:50918158-50922356
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50898652..50901645-chr7:50918405..50921286,2	MCF-7	breast:
2	chr7:50850490..50852455-chr7:50921334..50922952,2	K562	blood:
3	chr7:50921376..50923095-chr7:50927701..50929324,2	K562	blood:
4	chr7:50920418..50922881-chr7:50925446..50926981,2	K562	blood:
5	chr7:50902525..50906129-chr7:50919563..50922496,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106070	chromatin interactions

Extended variants
information (count: 168 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:168 , 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	rs377698357	chr7:50918174-50918175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187711292	chr7:50918227-50918228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs62447626	chr7:50918230-50918231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535209024	chr7:50918241-50918242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35335570	chr7:50918279-50918280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559154059	chr7:50918286-50918287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572669253	chr7:50918289-50918290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541794640	chr7:50918315-50918316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561545891	chr7:50918330-50918331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553256598	chr7:50918342-50918343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143429618	chr7:50918381-50918382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184698075	chr7:50918406-50918407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189982959	chr7:50918431-50918432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563263917	chr7:50918480-50918481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532183557	chr7:50918544-50918545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138385431	chr7:50918615-50918616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76610031	chr7:50918668-50918669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143842761	chr7:50918678-50918679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548105376	chr7:50918721-50918722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568327608	chr7:50918770-50918771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536265909	chr7:50918851-50918852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550119790	chr7:50918864-50918865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192970233	chr7:50918905-50918906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71540269	chr7:50918907-50918908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539163831	chr7:50918923-50918924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559093005	chr7:50918924-50918925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184690723	chr7:50918987-50918988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115596138	chr7:50919030-50919031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555320421	chr7:50919044-50919045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575051699	chr7:50919078-50919079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543051373	chr7:50919082-50919083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563252223	chr7:50919128-50919129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576751087	chr7:50919182-50919183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189517987	chr7:50919187-50919188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545539251	chr7:50919226-50919227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542110166	chr7:50919227-50919228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150602523	chr7:50919231-50919232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528303938	chr7:50919235-50919236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74782418	chr7:50919245-50919246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139638524	chr7:50919247-50919248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371298434	chr7:50919310-50919311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550592209	chr7:50919311-50919312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149735771	chr7:50919338-50919339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180764654	chr7:50919401-50919402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552740176	chr7:50919416-50919417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566146585	chr7:50919430-50919431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373981159	chr7:50919473-50919474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186265470	chr7:50919504-50919505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55988746	chr7:50919570-50919571	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs376756644	chr7:50919574-50919575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Gastrointestinal stromal cancer	20877625	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
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50911400-50925600	Weak transcription	Pancreas	Pancrea
2	chr7:50917400-50920800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:50918000-50918600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:50918000-50920000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:50918600-50919800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:50918600-50919800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:50918600-50919800	Enhancers	Osteobl	bone
8	chr7:50918600-50920200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:50918800-50919200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:50918800-50919400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:50918800-50919600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:50918800-50920000	Enhancers	NH-A	brain
13	chr7:50919200-50919400	Enhancers	Right Ventricle	heart
14	chr7:50919200-50919800	Enhancers	A549	lung
15	chr7:50919200-50924200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:50919400-50920000	Enhancers	Duodenum Mucosa	Duodenum
17	chr7:50919800-50920200	Enhancers	Fetal Heart	heart
18	chr7:50919800-50922400	Weak transcription	Right Ventricle	heart
19	chr7:50919800-50924600	Weak transcription	Osteobl	bone
20	chr7:50920000-50920400	Active TSS	Fetal Kidney	kidney
21	chr7:50920200-50924800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:50920200-50924800	Weak transcription	Fetal Heart	heart
23	chr7:50920800-50921200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:50920800-50921600	Enhancers	Spleen	Spleen
25	chr7:50921200-50921400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:50921400-50922200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:50921600-50921800	Weak transcription	Spleen	Spleen
28	chr7:50921800-50922200	Enhancers	Spleen	Spleen
29	chr7:50922200-50922400	Flanking Active TSS	Spleen	Spleen
30	chr7:50922200-50922600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:50922200-50923600	Enhancers	Esophagus	oesophagus

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