Variant report

Variant	esv3382890
Chromosome Location	chr7:150868782-150869189
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	CTCF	chr7:150868691-150868821	Kidney_OC	kidney:	n/a	n/a
2	CTCF	chr7:150869080-150869230	GM12872	blood:	n/a	n/a
3	CTCF	chr7:150869121-150870413	A549	lung:	n/a	chr7:150869839-150869860 chr7:150869777-150869798 chr7:150869846-150869859 chr7:150869845-150869861 chr7:150869785-150869795 chr7:150869782-150869800 chr7:150869783-150869799 chr7:150869784-150869797 chr7:150869844-150869862 chr7:150869847-150869857 chr7:150869788-150869797
4	E2F6	chr7:150869038-150869208	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150820513..150821925-chr7:150868429..150870728,74	MCF-7	breast:
2	chr7:150856743..150859104-chr7:150867088..150868799,2	K562	blood:
3	chr7:150868839..150872466-chr7:150882758..150884932,3	K562	blood:
4	chr7:150868213..150870135-chr7:150902617..150904463,2	MCF-7	breast:
5	chr7:150866879..150869732-chr7:150922640..150924927,2	MCF-7	breast:
6	chr7:150865510..150867888-chr7:150868111..150870105,3	MCF-7	breast:
7	chr7:150813337..150816221-chr7:150868567..150872033,3	K562	blood:
8	chr7:150867962..150869768-chr7:150923937..150926125,2	K562	blood:
9	chr7:150864670..150867629-chr7:150867737..150869840,2	MCF-7	breast:
10	chr7:150866583..150869768-chr7:150922460..150926125,3	K562	blood:
11	chr7:150868708..150870235-chr7:150880029..150882715,2	K562	blood:
12	chr7:150869179..150870329-chr7:151000054..151001183,7	K562	blood:

Variant related genes	Relation type
GBX1	TF binding region
ENSG00000146926	chromatin interactions
ENSG00000133612	chromatin interactions
ENSG00000033050	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181242022	chr7:150868782-150868783	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs537477513	chr7:150868823-150868824	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs563934331	chr7:150868836-150868837	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs532997945	chr7:150868858-150868859	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs550033681	chr7:150868874-150868875	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs76066226	chr7:150868894-150868895	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs569259588	chr7:150868921-150868922	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs186333956	chr7:150868933-150868934	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs12532992	chr7:150869038-150869039	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs10238030	chr7:150869114-150869115	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150865400-150870400	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr7:150865600-150869800	Weak transcription	Pancreas	Pancrea
3	chr7:150865600-150877800	Weak transcription	Right Atrium	heart
4	chr7:150868400-150869800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr7:150868400-150870200	Enhancers	Fetal Heart	heart
6	chr7:150868600-150877800	Weak transcription	Left Ventricle	heart

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