Variant report

Variant	esv275391
Chromosome Location	chr6:102122091-102126758
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	GATA3	chr6:102125498-102125667	SH-SY5Y	brain:	n/a	n/a
2	JUN	chr6:102123070-102123242	K562	blood:	n/a	n/a
3	MAFK	chr6:102125211-102125516	HepG2	liver:	n/a	n/a
4	REST	chr6:102125511-102126229	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
GRIK2	TF binding region

Extended variants
information (count: 118 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551591875	chr6:102123070-102123071	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs570016999	chr6:102123106-102123107	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs61549339	chr6:102123142-102123143	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs141878334	chr6:102123148-102123149	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs116320662	chr6:102123149-102123150	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs535365775	chr6:102123155-102123156	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs553501034	chr6:102123156-102123157	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs115176122	chr6:102123157-102123158	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs55912496	chr6:102123158-102123159	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs533782772	chr6:102123165-102123166	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs201076758	chr6:102123166-102123167	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs9485531	chr6:102123169-102123170	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs537176420	chr6:102123170-102123171	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs3056135	chr6:102123181-102123182	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs5878684	chr6:102123202-102123203	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs556779821	chr6:102123203-102123204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs188024499	chr6:102123204-102123205	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs143460715	chr6:102123212-102123213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs57826527	chr6:102123215-102123216	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs542200258	chr6:102123231-102123232	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs567683593	chr6:102123803-102123804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78962541	chr6:102123892-102123893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528746701	chr6:102123894-102123895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183196123	chr6:102123895-102123896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571956303	chr6:102123900-102123901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187934476	chr6:102123914-102123915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9390766	chr6:102123924-102123925	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs78473852	chr6:102124008-102124009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149296624	chr6:102124012-102124013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9322602	chr6:102124031-102124032	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs530290403	chr6:102124040-102124041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572515334	chr6:102124041-102124042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533518236	chr6:102124067-102124068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369425402	chr6:102124074-102124075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375978142	chr6:102124150-102124151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146284968	chr6:102124156-102124157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558569167	chr6:102124211-102124212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577107644	chr6:102124221-102124222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113844350	chr6:102124234-102124235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562697826	chr6:102124284-102124285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575778681	chr6:102124331-102124332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139366318	chr6:102124343-102124344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540989715	chr6:102124359-102124360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574835760	chr6:102124398-102124399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs56655044	chr6:102124410-102124411	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs75585276	chr6:102124421-102124422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528475461	chr6:102124452-102124453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2243351	chr6:102124471-102124472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114149718	chr6:102124475-102124476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574602328	chr6:102124477-102124478	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	22543975	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:102123800-102124600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr6:102125200-102125600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:102125400-102125800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr6:102125600-102129000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:102125800-102126800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:102125800-102130400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:102126400-102126800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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