Variant report

Variant	esv3449095
Chromosome Location	chr7:86268006-86268525
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	POLR2A	chr7:86268086-86268261	MCF10A-Er-Src	breast:	n/a	n/a
2	UBTF	chr7:86268054-86268219	K562	blood:	n/a	n/a

Variant related genes	Relation type
GRM3	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571083435	chr7:86268026-86268027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557441334	chr7:86268038-86268039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575625584	chr7:86268049-86268050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543062693	chr7:86268062-86268063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560214211	chr7:86268100-86268101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181876899	chr7:86268141-86268142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527459419	chr7:86268195-86268196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78592908	chr7:86268251-86268252	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs113593473	chr7:86268267-86268268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186091214	chr7:86268310-86268311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533369846	chr7:86268360-86268361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34098365	chr7:86268451-86268452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86263800-86268600	Weak transcription	Brain Substantia Nigra	brain
2	chr7:86263800-86268800	Weak transcription	Brain Anterior Caudate	brain
3	chr7:86263800-86268800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:86267000-86272600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:86267400-86269400	Enhancers	Brain Hippocampus Middle	brain
6	chr7:86268000-86271600	Weak transcription	Brain Angular Gyrus	brain

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