Variant report

Variant	esv3346648
Chromosome Location	chr7:147528544-147531017
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	ATF1	chr7:147528563-147528613	K562	blood:	n/a	n/a
2	CTCF	chr7:147528579-147528619	MCF-7	breast:	n/a	n/a
3	CTCF	chr7:147528544-147528640	LNCaP	prostate:	n/a	n/a
4	CTCF	chr7:147528525-147528627	LNCaP	prostate:	n/a	n/a
5	GTF2F1	chr7:147530867-147530885	H1-hESC	embryonic stem cell:	n/a	n/a
6	HCFC1	chr7:147530829-147530978	K562	blood:	n/a	n/a
7	JUND	chr7:147530632-147531008	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr7:147528510-147528665	NB4	blood:	n/a	chr7:147528631-147528641
9	POLR2A	chr7:147531008-147531113	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:147528853-147528979	ProgFib	skin:	n/a	n/a
11	RFX5	chr7:147530087-147530088	K562	blood:	n/a	n/a
12	SIX5	chr7:147530720-147531103	H1-hESC	embryonic stem cell:	n/a	n/a
13	SIX5	chr7:147530655-147531073	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr7:147530428-147531048	H1-hESC	embryonic stem cell:	n/a	n/a
15	YY1	chr7:147530464-147531013	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZNF143	chr7:147530784-147531057	K562	blood:	n/a	n/a
17	ZNF143	chr7:147530750-147531050	GM12878	blood:	n/a	n/a
18	ZNF143	chr7:147530344-147531113	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZNF143	chr7:147530749-147531038	Hela-S3	cervix:	n/a	n/a
20	ZNF274	chr7:147529213-147530213	K562	blood:	n/a	n/a

Variant related genes	Relation type
RNU6-1184P	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12532085	chr7:147528589-147528590	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527732068	chr7:147528607-147528608	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs12540078	chr7:147528625-147528626	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs369143073	chr7:147528626-147528627	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs371050663	chr7:147528853-147528854	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs528663875	chr7:147530411-147530412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12531111	chr7:147530449-147530450	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs570451333	chr7:147530497-147530498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187202934	chr7:147530498-147530499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549812416	chr7:147530520-147530521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375943377	chr7:147530526-147530527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569642586	chr7:147530565-147530566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539460879	chr7:147530595-147530596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551319478	chr7:147530599-147530600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535775862	chr7:147530615-147530616	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs76877797	chr7:147530622-147530623	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs77792317	chr7:147530660-147530661	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs555731218	chr7:147530678-147530679	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs191662495	chr7:147530681-147530682	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs183870417	chr7:147530719-147530720	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs557884963	chr7:147530732-147530733	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs146250091	chr7:147530767-147530768	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs543474891	chr7:147530784-147530785	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs556960385	chr7:147530801-147530802	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs139256717	chr7:147530822-147530823	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs12531773	chr7:147530842-147530843	Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs188391049	chr7:147530863-147530864	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs538181797	chr7:147530940-147530941	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs559787816	chr7:147530976-147530977	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs142862604	chr7:147530978-147530979	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Acute lymphoblastic leukemia	21339820	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

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147530400-147530600	Enhancers	Brain Anterior Caudate	brain
2	chr7:147530400-147530600	Enhancers	Brain Substantia Nigra	brain
3	chr7:147530400-147530800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:147530400-147530800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:147530400-147530800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:147530400-147530800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:147530400-147531200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr7:147530400-147531800	Enhancers	Brain Angular Gyrus	brain
9	chr7:147530600-147530800	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr7:147530600-147530800	Flanking Active TSS	Brain Substantia Nigra	brain
11	chr7:147530600-147531000	Enhancers	Brain Hippocampus Middle	brain
12	chr7:147530600-147531200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:147530600-147531600	Enhancers	Brain Cingulate Gyrus	brain
14	chr7:147530800-147531000	Active TSS	Brain Substantia Nigra	brain
15	chr7:147530800-147531200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:147530800-147531400	Active TSS	Brain Anterior Caudate	brain
17	chr7:147531000-147531200	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr7:147531000-147531400	Enhancers	Fetal Brain Female	brain

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