Variant report

Variant	nsv527973
Chromosome Location	chr6:102114780-102119829
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr6:102116507-102116743	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr6:102116135-102116744	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr6:102116205-102117021	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr6:102116115-102116816	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr6:102113869-102115189	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr6:102116255-102116852	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr6:102117418-102117522	MCF10A-Er-Src	breast:	n/a	n/a
8	MYC	chr6:102116339-102116763	MCF10A-Er-Src	breast:	n/a	chr6:102116459-102116468
9	MYC	chr6:102116266-102116787	MCF10A-Er-Src	breast:	n/a	chr6:102116459-102116468
10	POLR2A	chr6:102118179-102118554	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr6:102116266-102116706	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr6:102116266-102116390	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr6:102118179-102118428	H1-neurons	neurons:	n/a	n/a
14	STAT3	chr6:102116356-102116763	MCF10A-Er-Src	breast:	n/a	chr6:102116480-102116489 chr6:102116481-102116490 chr6:102116376-102116399
15	STAT3	chr6:102116372-102116738	MCF10A-Er-Src	breast:	n/a	chr6:102116480-102116489 chr6:102116481-102116490 chr6:102116376-102116399
16	STAT3	chr6:102116419-102116711	MCF10A-Er-Src	breast:	n/a	chr6:102116480-102116489 chr6:102116481-102116490
17	STAT3	chr6:102116395-102116765	MCF10A-Er-Src	breast:	n/a	chr6:102116480-102116489 chr6:102116481-102116490

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:102115051-102115101	SAEC	small airway:	n/a
2	chr6:102115051-102115101	AoSMC	blood vessel:	n/a
3	chr6:102115051-102115101	HepG2	liver:	n/a
4	chr6:102115051-102115101	Hepatocyte	liver:	n/a
5	chr6:102115051-102115101	NHBE	bronchial:	n/a
6	chr6:102115051-102115101	MCF10A-Er-Src	breast:	n/a
7	chr6:102115051-102115101	GM06990	blood:	n/a
8	chr6:102115051-102115101	T-47D	breast:	n/a
9	chr6:102115051-102115101	AG04450	lung:	fetal
10	chr6:102115051-102115101	GM12891	blood:	n/a
11	chr6:102115051-102115101	HL-60	blood:	n/a
12	chr6:102115051-102115101	HRE	kidney:	n/a
13	chr6:102115051-102115101	PFSK-1	brain:	n/a
14	chr6:102115051-102115101	HIPEpiC	eye:	n/a
15	chr6:102115051-102115101	AG09309	skin:	n/a
16	chr6:102115051-102115101	RPTEC	kidney:	n/a
17	chr6:102115051-102115101	PANC-1	pancreas:	n/a
18	chr6:102115051-102115101	NHDF-neo	bronchial:	n/a
19	chr6:102115051-102115101	CMK	blood:	n/a
20	chr6:102115051-102115101	NB4	blood:	n/a
21	chr6:102115051-102115101	HCM	heart:	n/a
22	chr6:102115051-102115101	LNCaP	prostate:	n/a
23	chr6:102115051-102115101	SKMC	muscle:	n/a
24	chr6:102115051-102115101	Hela-S3	cervix:	n/a
25	chr6:102115051-102115101	BJ	skin:	n/a
26	chr6:102115051-102115101	U87	brain:	n/a
27	chr6:102115051-102115101	NT2-D1	testis:	n/a
28	chr6:102115051-102115101	HPAEpiC	pulmonary alveolar:	n/a
29	chr6:102115051-102115101	A549	lung:	n/a
30	chr6:102115051-102115101	Caco-2	colon:	n/a
31	chr6:102115051-102115101	SK-N-MC	brain:	n/a
32	chr6:102115051-102115101	GM19239	blood:	n/a
33	chr6:102115051-102115101	NH-A	brain:	n/a
34	chr6:102115051-102115101	HUVEC	blood vessel:	n/a
35	chr6:102115051-102115101	HNPCEpiC	eye:	n/a
36	chr6:102115051-102115101	Jurkat	blood:	n/a
37	chr6:102115051-102115101	HCPEpiC	choroid plexus:	n/a
38	chr6:102115051-102115101	HRPEpiC	eye:	n/a
39	chr6:102115051-102115101	AG09319	gingival:	n/a
40	chr6:102115051-102115101	SK-N-SH	brain:	n/a
41	chr6:102115051-102115101	HRCEpiC	kidney:	n/a
42	chr6:102115051-102115101	AG10803	skin:	n/a
43	chr6:102115051-102115101	HEK293	kidney:	embryo
44	chr6:102115051-102115101	HEEpiC	esophagus:	n/a
45	chr6:102115051-102115101	ECC-1	luminal epithelium:	n/a
46	chr6:102115051-102115101	ProgFib	skin:	n/a
47	chr6:102115051-102115101	H1-hESC	embryonic stem cell:	embryo
48	chr6:102115051-102115101	HCT-116	colon:	n/a
49	chr6:102115051-102115101	GM12892	blood:	n/a
50	chr6:102115051-102115101	ovcar-3	ovarian:	n/a

No data

Variant related genes	Relation type
GRIK2	TF binding region
GRIK2	CpG island

Extended variants
information (count: 185 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9485528	chr6:102114780-102114781	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376970237	chr6:102114859-102114860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576399910	chr6:102114918-102114919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543717255	chr6:102114953-102114954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145235070	chr6:102114973-102114974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533421253	chr6:102114982-102114983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs151020917	chr6:102115032-102115033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140861746	chr6:102115051-102115052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149667743	chr6:102115052-102115053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185431794	chr6:102115068-102115069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545774895	chr6:102115087-102115088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545107321	chr6:102115100-102115101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376264693	chr6:102115103-102115104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189203167	chr6:102115184-102115185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548753113	chr6:102115195-102115196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567544588	chr6:102115199-102115200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192861177	chr6:102115207-102115208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546369650	chr6:102115226-102115227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141699008	chr6:102115299-102115300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571131065	chr6:102115303-102115304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539513789	chr6:102115318-102115319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558241418	chr6:102115325-102115326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569904293	chr6:102115440-102115441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375168864	chr6:102115445-102115446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537449380	chr6:102115469-102115470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555517367	chr6:102115524-102115525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145446428	chr6:102115591-102115592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541772351	chr6:102115595-102115596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553573588	chr6:102115616-102115617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140226051	chr6:102115685-102115686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145375019	chr6:102115698-102115699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185473884	chr6:102115719-102115720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575289658	chr6:102115726-102115727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542594957	chr6:102115742-102115743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188646335	chr6:102115769-102115770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181121334	chr6:102115799-102115800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369218473	chr6:102115810-102115811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546506729	chr6:102115818-102115819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17062280	chr6:102115820-102115821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140685500	chr6:102115822-102115823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532606256	chr6:102115835-102115836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543481819	chr6:102115839-102115840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550549186	chr6:102115925-102115926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143740527	chr6:102115981-102115982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537182400	chr6:102116009-102116010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7739084	chr6:102116069-102116070	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs567683737	chr6:102116081-102116082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184254101	chr6:102116111-102116112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553709498	chr6:102116114-102116115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578262338	chr6:102116129-102116130	Enhancers Weak transcription	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:102113600-102114800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:102113600-102117000	Enhancers	HMEC	breast
3	chr6:102113600-102117600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:102113800-102114800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr6:102113800-102114800	Enhancers	NH-A	brain
6	chr6:102114000-102114800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:102114000-102114800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr6:102114000-102114800	Enhancers	Hela-S3	cervix
9	chr6:102114000-102116800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:102114000-102117000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:102114000-102117000	Enhancers	NHEK	skin
12	chr6:102114600-102121600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:102114800-102116000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr6:102114800-102116200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr6:102116000-102116800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr6:102116200-102118800	Enhancers	Pancreatic Islets	Pancreatic Islet

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