Variant report

Variant	esv1355130
Chromosome Location	chr7:27200854-27200855
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	chr7:27200609-27200894	HepG2	liver:	n/a	n/a
2	ATF3	chr7:27200547-27200946	GM12878	blood:	n/a	n/a
3	BACH1	chr7:27200767-27200977	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCLAF1	chr7:27200463-27200972	GM12878	blood:	n/a	n/a
5	BCLAF1	chr7:27200547-27200942	GM12878	blood:	n/a	n/a
6	BHLHE40	chr7:27200582-27200924	K562	blood:	n/a	n/a
7	BHLHE40	chr7:27200175-27200938	GM12878	blood:	n/a	chr7:27200276-27200292
8	BRCA1	chr7:27200593-27200889	Hela-S3	cervix:	n/a	n/a
9	CHD1	chr7:27199994-27201688	IMR90	lung:	n/a	chr7:27200536-27200546
10	CHD2	chr7:27200602-27200928	GM12878	blood:	n/a	n/a
11	CHD2	chr7:27200634-27200967	Hela-S3	cervix:	n/a	n/a
12	CREB1	chr7:27200283-27200936	A549	lung:	n/a	n/a
13	CTBP2	chr7:27200303-27200982	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr7:27200604-27200940	T-47D	breast:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
15	CTCF	chr7:27200594-27200935	GM12892	blood:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
16	CTCF	chr7:27200623-27200922	Medullo	brain:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
17	CTCF	chr7:27200530-27200951	T-47D	breast:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
18	CTCF	chr7:27200378-27201015	HCT-116	colon:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
19	CTCF	chr7:27200619-27200919	GM10266	blood:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
20	CTCF	chr7:27200638-27200929	GM10248	blood:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
21	CTCF	chr7:27200720-27200870	HFF-Myc	foreskin:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
22	CTCF	chr7:27200720-27200870	RPTEC	kidney:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
23	CTCF	chr7:27200760-27200910	HVMF	connective:	n/a	n/a
24	CTCF	chr7:27200610-27200915	GM19239	blood:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
25	CTCF	chr7:27200720-27200870	NHDF-neo	bronchial:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
26	CTCF	chr7:27200649-27200901	LNCaP	prostate:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
27	CTCF	chr7:27200603-27201000	Spleen_OC	spleen:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
28	CTCF	chr7:27200720-27200870	MCF-7	breast:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
29	CTCF	chr7:27200607-27200924	A549	lung:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
30	CTCF	chr7:27200622-27200922	LNCaP	prostate:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
31	CTCF	chr7:27200631-27200911	A549	lung:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
32	CTCF	chr7:27200373-27201068	MCF-7	breast:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
33	CTCF	chr7:27200560-27200902	K562	blood:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
34	CTCF	chr7:27200654-27200889	ECC-1	luminal epithelium:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
35	CTCF	chr7:27200640-27200888	HUVEC	blood vessel:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
36	CTCF	chr7:27200589-27200961	Lung_OC	lung:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
37	CTCF	chr7:27200720-27200870	NHLF	lung:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
38	CTCF	chr7:27200645-27200896	GM13976	blood:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
39	CTCF	chr7:27200590-27200937	MCF-7	breast:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
40	CTCF	chr7:27200760-27200910	A549	lung:	n/a	n/a
41	CTCF	chr7:27200618-27200922	K562	blood:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
42	CTCF	chr7:27200720-27200870	AG04450	lung:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
43	CTCF	chr7:27200597-27200938	GM19240	blood:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
44	CTCF	chr7:27200623-27200907	MCF-7	breast:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
45	CTCF	chr7:27200596-27200944	GM19238	blood:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
46	CTCF	chr7:27200602-27200931	GM12891	blood:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
47	CTCF	chr7:27200624-27200935	Pancreas_OC	pancreas:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
48	CTCF	chr7:27200720-27200870	NB4	blood:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
49	CTCF	chr7:27200625-27200909	Hela-S3	cervix:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771
50	CTCF	chr7:27200610-27200918	GM12878	blood:	n/a	chr7:27200755-27200768 chr7:27200748-27200769 chr7:27200754-27200770 chr7:27200753-27200771

No.	Distal block	Cell Line	Cell type
1	chr7:26721156..26722065-chr7:27200580..27201256,2	K562	blood:
2	chr7:26721413..26722057-chr7:27200291..27201200,4	MCF-7	breast:
3	chr7:27190534..27191089-chr7:27200653..27201204,2	K562	blood:
4	chr7:26725724..26726744-chr7:27200278..27201244,5	K562	blood:
5	chr7:26723322..26725010-chr7:27199019..27201675,2	MCF-7	breast:
6	chr7:27190167..27191138-chr7:27200376..27201155,3	MCF-7	breast:
7	chr7:27183139..27183901-chr7:27200335..27201099,3	MCF-7	breast:
8	chr7:26238165..26241346-chr7:27198877..27201770,4	MCF-7	breast:
9	chr7:27200539..27201139-chr7:27219090..27219816,2	MCF-7	breast:
10	chr7:26725689..26726610-chr7:27200641..27201297,2	MCF-7	breast:
11	chr7:25932300..25932849-chr7:27200332..27201172,2	K562	blood:
12	chr7:26694010..26696341-chr7:27199658..27201244,2	K562	blood:
13	chr7:26227531..26229073-chr7:27198944..27201412,2	K562	blood:
14	chr7:27200689..27201394-chr7:27213410..27214189,2	NB4	blood:
15	chr7:26894828..26897181-chr7:27200837..27202990,2	K562	blood:
16	chr7:27190086..27191111-chr7:27200198..27201535,13	MCF-7	breast:

Variant related genes	Relation type
HOXA7	TF binding region
ENSG00000253293	chromatin interactions
ENSG00000257184	chromatin interactions
ENSG00000106006	chromatin interactions
ENSG00000122565	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000106004	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 75 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs68021164	chr7:27200855-27200856	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
Melanoma	18172304	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
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
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27186800-27202600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:27195400-27203200	Active TSS	Rectal Smooth Muscle	rectum
3	chr7:27196600-27201000	Flanking Active TSS	HUVEC	blood vessel
4	chr7:27197600-27201400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr7:27198400-27201800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:27199400-27201000	Flanking Active TSS	HMEC	breast
7	chr7:27199600-27201000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:27199600-27201200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr7:27199600-27201400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:27199600-27201600	Active TSS	Osteobl	bone
11	chr7:27199600-27202600	Active TSS	Fetal Kidney	kidney
12	chr7:27199600-27206400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:27199800-27201000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
14	chr7:27199800-27201000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
15	chr7:27199800-27201000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:27199800-27201000	Enhancers	Lung	lung
17	chr7:27199800-27201200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
18	chr7:27199800-27201200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
19	chr7:27199800-27201200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:27199800-27201200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
21	chr7:27199800-27201200	Bivalent Enhancer	Fetal Brain Male	brain
22	chr7:27199800-27201600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:27199800-27203400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr7:27200000-27201000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
25	chr7:27200000-27201000	Bivalent/Poised TSS	Primary T killer memory cells from peripheral blood	blood
26	chr7:27200000-27201000	Flanking Active TSS	Liver	Liver
27	chr7:27200000-27201000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
28	chr7:27200000-27201000	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr7:27200000-27201000	Bivalent/Poised TSS	Small Intestine	intestine
30	chr7:27200000-27201200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
31	chr7:27200000-27201200	Active TSS	Right Atrium	heart
32	chr7:27200000-27201200	Flanking Bivalent TSS/Enh	Thymus	Thymus
33	chr7:27200000-27201200	Active TSS	A549	lung
34	chr7:27200000-27201400	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr7:27200000-27201800	Active TSS	Colonic Mucosa	Colon
36	chr7:27200000-27204400	Active TSS	Colon Smooth Muscle	Colon
37	chr7:27200000-27206000	Active TSS	NHDF-Ad	bronchial
38	chr7:27200200-27201000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr7:27200200-27201000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr7:27200200-27201000	Active TSS	Primary T cells from cord blood	blood
41	chr7:27200200-27201000	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:27200200-27201000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
43	chr7:27200200-27201000	Bivalent/Poised TSS	Esophagus	oesophagus
44	chr7:27200200-27201000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
45	chr7:27200200-27201000	Bivalent Enhancer	Fetal Heart	heart
46	chr7:27200200-27201000	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr7:27200200-27201000	Flanking Active TSS	Pancreas	Pancrea
48	chr7:27200200-27201000	Flanking Active TSS	Right Ventricle	heart
49	chr7:27200200-27201200	Active TSS	Aorta	Aorta
50	chr7:27200200-27201200	Active TSS	Brain Angular Gyrus	brain

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