Variant report

Variant	esv3323078
Chromosome Location	chr7:39054527-39056375
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	ARID3A	chr7:39056169-39056356	HepG2	liver:	n/a	n/a
2	BHLHE40	chr7:39056365-39056469	K562	blood:	n/a	n/a
3	ELF1	chr7:39056288-39056625	MCF-7	breast:	n/a	n/a
4	FOXA1	chr7:39056090-39057036	T-47D	breast:	n/a	n/a
5	FOXA1	chr7:39056185-39056695	T-47D	breast:	n/a	n/a
6	GATA3	chr7:39056201-39056431	MCF-7	breast:	n/a	n/a
7	GATA3	chr7:39056100-39056669	T-47D	breast:	n/a	n/a
8	GATA3	chr7:39056139-39056658	T-47D	breast:	n/a	n/a
9	GATA3	chr7:39055990-39056769	MCF-7	breast:	n/a	n/a
10	GATA3	chr7:39056017-39056736	MCF-7	breast:	n/a	n/a
11	GATA3	chr7:39056167-39056494	MCF-7	breast:	n/a	n/a
12	HDAC2	chr7:39056201-39056736	MCF-7	breast:	n/a	n/a
13	IRF1	chr7:39054447-39054570	K562	blood:	n/a	chr7:39054483-39054495 chr7:39054469-39054482 chr7:39054468-39054482 chr7:39054483-39054500 chr7:39054483-39054495
14	JUND	chr7:39056264-39056332	K562	blood:	n/a	n/a
15	MAX	chr7:39056138-39056671	MCF-7	breast:	n/a	n/a
16	MYC	chr7:39056343-39056450	MCF-7	breast:	n/a	n/a
17	MYC	chr7:39056284-39056541	MCF-7	breast:	n/a	n/a
18	MYC	chr7:39056264-39056537	MCF-7	breast:	n/a	n/a
19	NR2F2	chr7:39056124-39056658	MCF-7	breast:	n/a	n/a
20	POLR2A	chr7:39056180-39056393	ProgFib	skin:	n/a	n/a
21	TCF7L2	chr7:39056149-39056824	MCF-7	breast:	n/a	n/a
22	TEAD4	chr7:39056221-39056674	ECC-1	luminal epithelium:	n/a	n/a
23	TEAD4	chr7:39056205-39056628	ECC-1	luminal epithelium:	n/a	n/a
24	ZNF217	chr7:39056223-39056574	MCF-7	breast:	n/a	n/a
25	ZNF274	chr7:39054907-39056022	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:39052158..39055296-chr7:39055387..39058245,4	K562	blood:
2	chr7:39053567..39055132-chr7:39055413..39056943,2	K562	blood:
3	chr7:39053567..39055132-chr7:39055413..39056943,2	K562	blood:

Variant related genes	Relation type
POU6F2-AS2	TF binding region
ENSG00000233854	chromatin interactions
ENSG00000106536	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1229057	chr7:39054538-39054539	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558810169	chr7:39054598-39054599	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs200273770	chr7:39054677-39054678	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs73381669	chr7:39054693-39054694	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs73381671	chr7:39054704-39054705	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs545837503	chr7:39054735-39054736	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs562903744	chr7:39054759-39054760	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs10435033	chr7:39054837-39054838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548715293	chr7:39054898-39054899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201723529	chr7:39054902-39054903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199939535	chr7:39054947-39054948	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs202210635	chr7:39054950-39054951	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs71536622	chr7:39054951-39054952	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs200390604	chr7:39054954-39054955	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs111348917	chr7:39054982-39054983	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs527462632	chr7:39054988-39054989	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs77081298	chr7:39055001-39055002	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs570646496	chr7:39055012-39055013	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs72351476	chr7:39055015-39055016	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs539732738	chr7:39055049-39055050	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs555843022	chr7:39055067-39055068	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs10544661	chr7:39055115-39055116	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs200701411	chr7:39055117-39055118	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs12701688	chr7:39055118-39055119	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs569657472	chr7:39055149-39055150	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs367804264	chr7:39055172-39055173	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs375741201	chr7:39055173-39055174	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs12701689	chr7:39055186-39055187	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs181065109	chr7:39055204-39055205	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs28971956	chr7:39055248-39055249	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs372019889	chr7:39055249-39055250	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs28971036	chr7:39055250-39055251	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs28972397	chr7:39055257-39055258	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs28971636	chr7:39055259-39055260	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs370259285	chr7:39055269-39055270	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs28971593	chr7:39055271-39055272	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs374117442	chr7:39055276-39055277	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs368410957	chr7:39055277-39055278	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs373639202	chr7:39055278-39055279	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs368176563	chr7:39055289-39055290	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs371683834	chr7:39055290-39055291	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs372015922	chr7:39055291-39055292	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs377199007	chr7:39055295-39055296	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs375202138	chr7:39055297-39055298	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs372826963	chr7:39055300-39055301	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs377187670	chr7:39055305-39055306	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs369860648	chr7:39055340-39055341	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs371875907	chr7:39055342-39055343	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs374926366	chr7:39055344-39055345	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs28970300	chr7:39055345-39055346	Weak transcription	TF binding region	1 gene(s)	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39053200-39054600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:39053200-39056200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:39053400-39056200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:39053600-39056400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:39053600-39056400	Weak transcription	Placenta	Placenta
6	chr7:39054000-39054600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr7:39054200-39054600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:39054200-39054600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:39054200-39054600	Flanking Active TSS	K562	blood
10	chr7:39054200-39056200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:39054200-39057000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:39054200-39062000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:39054400-39056400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:39054600-39054800	Active TSS	K562	blood
15	chr7:39054600-39056200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:39054600-39056400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:39054600-39056400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:39056000-39056200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr7:39056200-39056400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:39056200-39056600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:39056200-39056600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:39056200-39056600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr7:39056200-39056600	Enhancers	Gastric	stomach
24	chr7:39056200-39056800	Enhancers	Fetal Kidney	kidney
25	chr7:39056200-39057000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr7:39056200-39058000	Enhancers	HUES6 Cell Line	embryonic stem cell

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