Variant report

Variant	esv3388027
Chromosome Location	chr7:47738477-47741275
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:47646097..47647972-chr7:47737601..47739251,2	MCF-7	breast:
2	chr7:47732465..47733984-chr7:47739980..47741778,2	MCF-7	breast:
3	chr7:47731657..47733270-chr7:47740448..47743349,2	MCF-7	breast:
4	chr7:47619426..47621699-chr7:47736196..47738585,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136205	chromatin interactions

Extended variants
information (count: 134 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578185196	chr7:47738481-47738482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs115665882	chr7:47738502-47738503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs116078266	chr7:47738507-47738508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545687831	chr7:47738545-47738546	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs147364501	chr7:47738546-47738547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs373839177	chr7:47738555-47738556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs192623483	chr7:47738564-47738565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs374799978	chr7:47738574-47738575	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs532276951	chr7:47738662-47738663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552555335	chr7:47738664-47738665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139456202	chr7:47738681-47738682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368100746	chr7:47738682-47738683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144984630	chr7:47738708-47738709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147170887	chr7:47738717-47738718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184843495	chr7:47738730-47738731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537657132	chr7:47738761-47738762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187105964	chr7:47738772-47738773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571141425	chr7:47738782-47738783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73338409	chr7:47738804-47738805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192274858	chr7:47738824-47738825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs386712900	chr7:47738841-47738842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148630951	chr7:47738881-47738882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538304150	chr7:47738890-47738891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556794017	chr7:47738892-47738893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541018402	chr7:47738941-47738942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554714804	chr7:47738947-47738948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111229748	chr7:47738954-47738955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574400971	chr7:47738958-47738959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543624583	chr7:47738966-47738967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184532630	chr7:47738988-47738989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142938055	chr7:47739063-47739064	Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372084452	chr7:47739105-47739106	Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189626391	chr7:47739106-47739107	Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113830433	chr7:47739170-47739171	Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113978245	chr7:47739180-47739181	Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568239407	chr7:47739193-47739194	Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530876470	chr7:47739226-47739227	Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551038490	chr7:47739227-47739228	Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193110240	chr7:47739246-47739247	Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540021447	chr7:47739257-47739258	Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575146984	chr7:47739272-47739273	Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375937218	chr7:47739285-47739286	Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112868700	chr7:47739304-47739305	Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185511896	chr7:47739305-47739306	Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534604609	chr7:47739310-47739311	Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369277734	chr7:47739317-47739318	Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542235317	chr7:47739343-47739344	Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs386712901	chr7:47739351-47739352	Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372603405	chr7:47739368-47739369	Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536777990	chr7:47739433-47739434	Weak transcription ZNF genes & repeats Genic 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
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Abnormal phenotypes	18644119	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	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
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47731200-47741600	Weak transcription	Right Atrium	heart
2	chr7:47732800-47739000	Weak transcription	Pancreas	Pancrea
3	chr7:47733000-47750000	Weak transcription	Aorta	Aorta
4	chr7:47733200-47741400	Weak transcription	A549	lung
5	chr7:47734000-47748600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:47734200-47739000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:47734600-47739400	Weak transcription	Fetal Kidney	kidney
8	chr7:47734600-47748200	Weak transcription	Fetal Stomach	stomach
9	chr7:47738400-47741600	Weak transcription	HSMMtube	muscle
10	chr7:47739000-47739200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:47739000-47739600	Genic enhancers	Pancreas	Pancrea
12	chr7:47739200-47739400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:47739400-47740000	ZNF genes & repeats	Fetal Kidney	kidney
14	chr7:47739600-47740000	Enhancers	Pancreas	Pancrea
15	chr7:47740000-47744800	Weak transcription	Fetal Kidney	kidney
16	chr7:47740000-47744800	Weak transcription	Pancreas	Pancrea

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