Variant report

Variant	esv3342669
Chromosome Location	chr7:39039327-39043525
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:39039920-39040082	IMR90	lung:	n/a	n/a
2	CTCF	chr7:39041398-39041416	GM19239	blood:	n/a	n/a
3	CTCF	chr7:39041417-39041504	GM19239	blood:	n/a	n/a
4	CTCF	chr7:39041376-39041464	MCF-7	breast:	n/a	n/a
5	GATA3	chr7:39042222-39042479	T-47D	breast:	n/a	n/a
6	JUND	chr7:39041299-39041520	HepG2	liver:	n/a	n/a
7	MAFF	chr7:39042403-39042694	HepG2	liver:	n/a	chr7:39042533-39042551
8	MAFF	chr7:39042406-39042680	K562	blood:	n/a	chr7:39042533-39042551
9	MAFK	chr7:39042448-39042694	HepG2	liver:	n/a	chr7:39042535-39042550 chr7:39042536-39042547 chr7:39042535-39042546 chr7:39042535-39042546 chr7:39042534-39042548
10	MAFK	chr7:39042484-39042658	IMR90	lung:	n/a	chr7:39042535-39042550 chr7:39042536-39042547 chr7:39042535-39042546 chr7:39042535-39042546 chr7:39042534-39042548
11	MAFK	chr7:39042399-39042714	HepG2	liver:	n/a	chr7:39042535-39042550 chr7:39042536-39042547 chr7:39042535-39042546 chr7:39042535-39042546 chr7:39042534-39042548
12	MAZ	chr7:39042661-39042690	HepG2	liver:	n/a	n/a
13	MAZ	chr7:39039738-39039757	HepG2	liver:	n/a	n/a
14	MYC	chr7:39041340-39041482	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39035446..39037795-chr7:39039959..39041669,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VPS41-1	chr7:39041720-39041818	NONHSAT120194
2	lnc-YAE1D1-4	chr7:39041329-39041554	NONHSAT120196
3	lnc-VPS41-1	chr7:39041612-39041672	ENSG00000233854

Variant related genes	Relation type
POU6F2	TF binding region

Extended variants
information (count: 120 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146902089	chr7:39040812-39040813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs56176589	chr7:39040813-39040814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554900881	chr7:39040815-39040816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373834577	chr7:39040822-39040823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533381027	chr7:39040825-39040826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386712375	chr7:39040845-39040846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189111036	chr7:39040846-39040847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs397937606	chr7:39040869-39040870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10488570	chr7:39040893-39040894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs563608877	chr7:39040894-39040895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375069445	chr7:39040920-39040921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6945106	chr7:39040965-39040966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs565873735	chr7:39040974-39040975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528320395	chr7:39040981-39040982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377010842	chr7:39040985-39040986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181055318	chr7:39041013-39041014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560968723	chr7:39041037-39041038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186248708	chr7:39041058-39041059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73369771	chr7:39041064-39041065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs531520863	chr7:39041078-39041079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190908772	chr7:39041093-39041094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181402464	chr7:39041108-39041109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143972940	chr7:39041120-39041121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73369773	chr7:39041141-39041142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs571182008	chr7:39041164-39041165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535300613	chr7:39041201-39041202	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558472031	chr7:39041227-39041228	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs578256724	chr7:39041261-39041262	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111526876	chr7:39041266-39041267	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs398111263	chr7:39041271-39041272	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372533374	chr7:39041275-39041276	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11280304	chr7:39041277-39041278	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11279456	chr7:39041285-39041286	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185935820	chr7:39041305-39041306	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191322144	chr7:39041318-39041319	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377334311	chr7:39041358-39041359	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs371314079	chr7:39041363-39041364	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs113888723	chr7:39041375-39041376	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs374496652	chr7:39041391-39041392	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs377386332	chr7:39041395-39041396	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs543108125	chr7:39041424-39041425	ZNF genes & repeats Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs140937242	chr7:39041518-39041519	ZNF genes & repeats Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs559256863	chr7:39041521-39041522	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs528289507	chr7:39041529-39041530	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs551197470	chr7:39041541-39041542	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs35988663	chr7:39041553-39041554	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs564818770	chr7:39041599-39041600	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530762320	chr7:39041611-39041612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs859554	chr7:39041658-39041659	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs375299067	chr7:39041679-39041680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39040800-39044800	Weak transcription	Brain Substantia Nigra	brain
2	chr7:39041200-39041600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr7:39041200-39041600	ZNF genes & repeats	Fetal Kidney	kidney

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