Variant report

Variant	esv3346993
Chromosome Location	chr7:11430761-11447799
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	BHLHE40	chr7:11434104-11434404	HepG2	liver:	n/a	n/a
2	CEBPB	chr7:11447763-11448043	A549	lung:	n/a	n/a
3	CEBPB	chr7:11447785-11448092	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr7:11447761-11448027	IMR90	lung:	n/a	n/a
5	CEBPB	chr7:11447750-11448022	A549	lung:	n/a	n/a
6	CEBPB	chr7:11447781-11448074	A549	lung:	n/a	n/a
7	CTCF	chr7:11438615-11438681	Lung_OC	lung:	n/a	n/a
8	CTCF	chr7:11435171-11435211	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr7:11437876-11437931	GM13976	blood:	n/a	n/a
10	CTCF	chr7:11442048-11442108	GM20000	blood:	n/a	n/a
11	CTCF	chr7:11444160-11444188	ProgFib	skin:	n/a	n/a
12	CTCF	chr7:11432960-11433110	GM06990	blood:	n/a	n/a
13	E2F6	chr7:11433957-11434325	H1-hESC	embryonic stem cell:	n/a	n/a
14	E2F6	chr7:11433922-11434170	H1-hESC	embryonic stem cell:	n/a	n/a
15	EBF1	chr7:11433982-11434255	GM12878	blood:	n/a	n/a
16	EBF1	chr7:11433973-11434239	GM12878	blood:	n/a	n/a
17	EP300	chr7:11443029-11445030	SK-N-SH	brain:	n/a	chr7:11443698-11443708 chr7:11444276-11444285 chr7:11444275-11444289 chr7:11444780-11444794 chr7:11443615-11443629
18	EP300	chr7:11443708-11444354	SK-N-SH_RA	brain:	n/a	chr7:11444276-11444285 chr7:11444275-11444289
19	EP300	chr7:11443536-11444347	SK-N-SH_RA	brain:	n/a	chr7:11443698-11443708 chr7:11444276-11444285 chr7:11444275-11444289 chr7:11443615-11443629
20	FOXA1	chr7:11432124-11432530	HepG2	liver:	n/a	n/a
21	FOXA1	chr7:11433899-11434471	HepG2	liver:	n/a	n/a
22	FOXA2	chr7:11432189-11432632	A549	lung:	n/a	n/a
23	FOXA2	chr7:11434101-11434345	HepG2	liver:	n/a	n/a
24	GATA2	chr7:11443767-11444382	SH-SY5Y	brain:	n/a	chr7:11444277-11444287
25	GATA3	chr7:11444011-11444367	T-47D	breast:	n/a	chr7:11444277-11444287
26	GATA3	chr7:11443492-11443694	SH-SY5Y	brain:	n/a	n/a
27	GATA3	chr7:11440874-11440899	SH-SY5Y	brain:	n/a	n/a
28	GATA3	chr7:11443959-11444363	SH-SY5Y	brain:	n/a	chr7:11444277-11444287
29	JUND	chr7:11434094-11434236	HepG2	liver:	n/a	n/a
30	MAFF	chr7:11444114-11444483	HepG2	liver:	n/a	chr7:11444297-11444315 chr7:11444296-11444310
31	MAFF	chr7:11444124-11444456	K562	blood:	n/a	chr7:11444297-11444315 chr7:11444296-11444310
32	MAFK	chr7:11443936-11444546	GM12878	blood:	n/a	chr7:11444296-11444310 chr7:11444298-11444313 chr7:11444295-11444311 chr7:11444293-11444313
33	MAFK	chr7:11444119-11444470	K562	blood:	n/a	chr7:11444296-11444310 chr7:11444298-11444313 chr7:11444295-11444311 chr7:11444293-11444313
34	MAFK	chr7:11444120-11444475	Hela-S3	cervix:	n/a	chr7:11444296-11444310 chr7:11444298-11444313 chr7:11444295-11444311 chr7:11444293-11444313
35	MAFK	chr7:11444120-11444468	HepG2	liver:	n/a	chr7:11444296-11444310 chr7:11444298-11444313 chr7:11444295-11444311 chr7:11444293-11444313
36	MAFK	chr7:11445081-11445094	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAFK	chr7:11444116-11444483	IMR90	lung:	n/a	chr7:11444296-11444310 chr7:11444298-11444313 chr7:11444295-11444311 chr7:11444293-11444313
38	MAFK	chr7:11444060-11444486	HepG2	liver:	n/a	chr7:11444296-11444310 chr7:11444298-11444313 chr7:11444295-11444311 chr7:11444293-11444313
39	MAFK	chr7:11444011-11444480	H1-hESC	embryonic stem cell:	n/a	chr7:11444296-11444310 chr7:11444298-11444313 chr7:11444295-11444311 chr7:11444293-11444313
40	MAX	chr7:11433979-11434271	HepG2	liver:	n/a	n/a
41	MYC	chr7:11431393-11431535	MCF-7	breast:	n/a	n/a
42	NR3C1	chr7:11434035-11434359	A549	lung:	n/a	n/a
43	POLR2A	chr7:11447003-11447015	Gliobla	brain:	n/a	n/a
44	POLR2A	chr7:11444146-11444184	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr7:11447638-11447659	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr7:11443993-11444038	Gliobla	brain:	n/a	n/a
47	POLR2A	chr7:11446995-11447000	Gliobla	brain:	n/a	n/a
48	POLR2A	chr7:11431428-11431430	A549	lung:	n/a	n/a
49	RXRA	chr7:11434040-11434260	HepG2	liver:	n/a	n/a
50	SP1	chr7:11433941-11434281	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000230435	TF binding region

Extended variants
information (count: 814 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:814 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530747766	chr7:11430807-11430808	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs550139544	chr7:11430835-11430836	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs566887932	chr7:11430875-11430876	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs188110120	chr7:11430882-11430883	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs529650816	chr7:11430887-11430888	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs532437460	chr7:11430900-11430901	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs113886867	chr7:11430901-11430902	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs546626786	chr7:11430917-11430918	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs114039602	chr7:11430947-11430948	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs74652835	chr7:11430948-11430949	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs558919249	chr7:11430958-11430959	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs373970497	chr7:11430984-11430985	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs569508992	chr7:11431013-11431014	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs552507116	chr7:11431014-11431015	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs544406266	chr7:11431023-11431024	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs538509047	chr7:11431024-11431025	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs555320339	chr7:11431045-11431046	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs111868266	chr7:11431061-11431062	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs569389781	chr7:11431077-11431078	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs554237958	chr7:11431114-11431115	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs538054453	chr7:11431120-11431121	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs144130769	chr7:11431172-11431173	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs180994478	chr7:11431210-11431211	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs147918854	chr7:11431219-11431220	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs201946827	chr7:11431237-11431238	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs564959742	chr7:11431271-11431272	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs575118712	chr7:11431280-11431281	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs577856500	chr7:11431292-11431293	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs187273040	chr7:11431319-11431320	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs529636609	chr7:11431369-11431370	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs546317930	chr7:11431399-11431400	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs560175880	chr7:11431414-11431415	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs191868663	chr7:11431415-11431416	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs146005672	chr7:11431439-11431440	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs78403686	chr7:11431461-11431462	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs552977241	chr7:11431490-11431491	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs538453057	chr7:11431491-11431492	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs182449065	chr7:11431495-11431496	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs111293382	chr7:11431496-11431497	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs568819682	chr7:11431510-11431511	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs572982392	chr7:11431543-11431544	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs372085690	chr7:11431552-11431553	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs115335581	chr7:11431569-11431570	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs375517867	chr7:11431573-11431574	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs577838510	chr7:11431580-11431581	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs577246506	chr7:11431596-11431597	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs185928753	chr7:11431624-11431625	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs556627558	chr7:11431651-11431652	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs538679718	chr7:11431672-11431673	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs190826786	chr7:11431683-11431684	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11417000-11440000	Weak transcription	Fetal Kidney	kidney
2	chr7:11419600-11430800	Weak transcription	Adipose Nuclei	Adipose
3	chr7:11427800-11430800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:11428400-11445600	Weak transcription	Fetal Brain Male	brain
5	chr7:11429600-11431000	Weak transcription	Fetal Intestine Large	intestine
6	chr7:11429800-11433000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:11430000-11432400	Strong transcription	Fetal Lung	lung
8	chr7:11430200-11432600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:11430200-11432800	Weak transcription	Brain Germinal Matrix	brain
10	chr7:11430200-11432800	Strong transcription	Placenta	Placenta
11	chr7:11430200-11433000	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr7:11430400-11431600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:11430400-11432000	ZNF genes & repeats	Fetal Stomach	stomach
14	chr7:11430600-11431000	ZNF genes & repeats	Fetal Brain Female	brain
15	chr7:11430600-11431200	ZNF genes & repeats	Fetal Muscle Leg	muscle
16	chr7:11430600-11431600	Strong transcription	Fetal Muscle Trunk	muscle
17	chr7:11430600-11431600	Strong transcription	Ovary	ovary
18	chr7:11430600-11433200	Strong transcription	Liver	Liver
19	chr7:11430800-11432200	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:11430800-11434400	Strong transcription	Adipose Nuclei	Adipose
21	chr7:11431000-11431200	Strong transcription	Fetal Intestine Large	intestine
22	chr7:11431000-11434400	Weak transcription	Fetal Brain Female	brain
23	chr7:11431200-11431400	Genic enhancers	Fetal Intestine Large	intestine
24	chr7:11431200-11432000	ZNF genes & repeats	Pancreas	Pancrea
25	chr7:11431200-11436400	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:11431200-11461600	Weak transcription	A549	lung
27	chr7:11431400-11433000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:11431400-11433000	Strong transcription	Fetal Intestine Large	intestine
29	chr7:11431600-11434400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr7:11431600-11445800	Weak transcription	Ovary	ovary
31	chr7:11431600-11446000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:11432000-11433000	Strong transcription	Fetal Stomach	stomach
33	chr7:11432000-11439800	Weak transcription	Pancreas	Pancrea
34	chr7:11432200-11453200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:11432400-11434000	Weak transcription	Fetal Lung	lung
36	chr7:11432400-11447400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:11432600-11445600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:11432800-11441400	Weak transcription	Placenta	Placenta
39	chr7:11433000-11453400	Weak transcription	Fetal Stomach	stomach
40	chr7:11433200-11443800	Weak transcription	Liver	Liver
41	chr7:11434000-11434200	Enhancers	Duodenum Mucosa	Duodenum
42	chr7:11434000-11434600	Strong transcription	Fetal Lung	lung
43	chr7:11434400-11446400	Weak transcription	Adipose Nuclei	Adipose
44	chr7:11434600-11438200	Weak transcription	Fetal Lung	lung
45	chr7:11435800-11453200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr7:11438000-11438600	ZNF genes & repeats	Fetal Brain Female	brain
47	chr7:11438200-11438800	ZNF genes & repeats	Fetal Lung	lung
48	chr7:11438600-11459800	Weak transcription	Fetal Brain Female	brain
49	chr7:11438800-11440200	Weak transcription	Fetal Lung	lung
50	chr7:11439000-11444000	Weak transcription	Fetal Intestine Small	intestine

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