Variant report

Variant	esv3418036
Chromosome Location	chr7:80010716-80012714
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	EP300	chr7:80010188-80010813	SK-N-SH	brain:	n/a	n/a
2	EP300	chr7:80009516-80011425	SK-N-SH	brain:	n/a	chr7:80009824-80009833 chr7:80009537-80009551
3	EP300	chr7:80010502-80010747	SK-N-SH_RA	brain:	n/a	n/a
4	EP300	chr7:80010073-80010886	SK-N-SH	brain:	n/a	n/a
5	FOSL2	chr7:80010125-80010766	SK-N-SH	brain:	n/a	n/a
6	FOXM1	chr7:80010241-80010816	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr7:80010130-80010903	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr7:80010173-80010902	SK-N-SH	brain:	n/a	n/a
9	JUND	chr7:80010122-80010833	SK-N-SH	brain:	n/a	n/a
10	JUND	chr7:80010179-80010866	SK-N-SH	brain:	n/a	n/a
11	MEF2A	chr7:80010096-80010863	SK-N-SH	brain:	n/a	n/a
12	NFIC	chr7:80010192-80011017	SK-N-SH	brain:	n/a	n/a
13	NFIC	chr7:80010219-80010846	SK-N-SH	brain:	n/a	n/a
14	PBX3	chr7:80010195-80010893	SK-N-SH	brain:	n/a	n/a
15	PBX3	chr7:80010178-80010838	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr7:80010219-80010760	SK-N-SH	brain:	n/a	n/a
17	RXRA	chr7:80010236-80010840	SK-N-SH	brain:	n/a	n/a
18	TCF12	chr7:80010199-80010925	SK-N-SH	brain:	n/a	n/a
19	TCF12	chr7:80010094-80010876	SK-N-SH	brain:	n/a	n/a
20	TEAD4	chr7:80010177-80010939	SK-N-SH	brain:	n/a	n/a
21	TEAD4	chr7:80010069-80010867	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
SNRPBP1	TF binding region

Extended variants
information (count: 85 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560386647	chr7:80010790-80010791	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs529041121	chr7:80010814-80010815	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs370529988	chr7:80010831-80010832	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs549109311	chr7:80010851-80010852	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs568926137	chr7:80010873-80010874	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs139167843	chr7:80010888-80010889	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs537872353	chr7:80010912-80010913	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs551059157	chr7:80010998-80010999	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs541520890	chr7:80011014-80011015	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs189073407	chr7:80011029-80011030	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs534206249	chr7:80011035-80011036	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs553989762	chr7:80011045-80011046	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs535776461	chr7:80011119-80011120	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs573885490	chr7:80011143-80011144	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs192950606	chr7:80011194-80011195	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs79098385	chr7:80011281-80011282	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs576100187	chr7:80011321-80011322	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs545400896	chr7:80011344-80011345	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs184603376	chr7:80011426-80011427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13228739	chr7:80011437-80011438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577895595	chr7:80011452-80011453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369873360	chr7:80011465-80011466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148580226	chr7:80011473-80011474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530962978	chr7:80011474-80011475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574986093	chr7:80011477-80011478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555704089	chr7:80011495-80011496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13362826	chr7:80011509-80011510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs188594	chr7:80011523-80011524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189101660	chr7:80011537-80011538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13362828	chr7:80011553-80011554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529464910	chr7:80011562-80011563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529105103	chr7:80011566-80011567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs433566	chr7:80011568-80011569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542818769	chr7:80011572-80011573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372476920	chr7:80011607-80011608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528539586	chr7:80011611-80011612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs57079230	chr7:80011619-80011620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531003482	chr7:80011621-80011622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3069362	chr7:80011635-80011636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201485263	chr7:80011646-80011647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34767847	chr7:80011650-80011651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs424363	chr7:80011659-80011660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs433779	chr7:80011660-80011661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200126642	chr7:80011672-80011673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3069363	chr7:80011694-80011695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537930403	chr7:80011726-80011727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538292210	chr7:80011732-80011733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557857397	chr7:80011758-80011759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551386808	chr7:80011807-80011808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571150719	chr7:80011830-80011831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Williams Syndrome	20824207	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
Williams-beuren syndrome	16826523	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
Cancer	20164919	CNVD
Breast cancer	21611746	CNVD
Hodgkin''s lymphoma	18641027	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80003200-80013600	Weak transcription	Gastric	stomach
2	chr7:80009000-80015000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:80009200-80014600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:80009200-80017200	Weak transcription	Fetal Kidney	kidney
5	chr7:80009400-80014800	Weak transcription	NHLF	lung
6	chr7:80009400-80017000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:80009600-80011000	Weak transcription	HUVEC	blood vessel
8	chr7:80009800-80013600	Weak transcription	Liver	Liver
9	chr7:80010600-80011200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr7:80011000-80011400	Enhancers	HUVEC	blood vessel
11	chr7:80011200-80014200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:80011400-80014200	Weak transcription	HUVEC	blood vessel

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