Variant report

Variant	nsv969432
Chromosome Location	chr6:101337650-101339670
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:101333586..101335134-chr6:101338753..101340690,2	K562	blood:
2	chr6:101333797..101336056-chr6:101337811..101340573,2	MCF-7	breast:
3	chr6:101326886..101330925-chr6:101337161..101339877,4	MCF-7	breast:
4	chr6:101328677..101332841-chr6:101334376..101338552,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRIK2-5	chr6:101337479-101338214	NONHSAT114165
2	lnc-GRIK2-5	chr6:101336895-101338371	NONHSAT114163

No data

Variant related genes	Relation type
ENSG00000260000	chromatin interactions
ENSG00000112249	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185016886	chr6:101337653-101337654	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs545617682	chr6:101337687-101337688	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs563936967	chr6:101337713-101337714	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs575834662	chr6:101337729-101337730	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs543319983	chr6:101337735-101337736	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs601360	chr6:101337765-101337766	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs371818936	chr6:101337767-101337768	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs36104814	chr6:101337779-101337780	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs9498420	chr6:101337780-101337781	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564628861	chr6:101337807-101337808	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs77391163	chr6:101337866-101337867	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs374066979	chr6:101337897-101337898	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs190253054	chr6:101337911-101337912	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs612459	chr6:101337975-101337976	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs536129144	chr6:101338057-101338058	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs548467730	chr6:101338076-101338077	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs139191723	chr6:101338117-101338118	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs535010624	chr6:101338118-101338119	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs553452977	chr6:101338122-101338123	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs143101287	chr6:101338142-101338143	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs539172312	chr6:101338150-101338151	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs592436	chr6:101338154-101338155	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs575814780	chr6:101338158-101338159	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs613338	chr6:101338159-101338160	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs527282995	chr6:101338199-101338200	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs561633400	chr6:101338229-101338230	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs573241305	chr6:101338240-101338241	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs547122976	chr6:101338259-101338260	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs192700258	chr6:101338260-101338261	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs564565625	chr6:101338263-101338264	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs115871749	chr6:101338265-101338266	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs550674405	chr6:101338283-101338284	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs562498547	chr6:101338333-101338334	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs529909813	chr6:101338384-101338385	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs185043769	chr6:101338464-101338465	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs117176321	chr6:101338473-101338474	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs199866708	chr6:101338489-101338490	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs549928378	chr6:101338538-101338539	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs569539255	chr6:101338567-101338568	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs188223942	chr6:101338573-101338574	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs148028473	chr6:101338627-101338628	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs571686255	chr6:101338705-101338706	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs538728290	chr6:101338709-101338710	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs6934256	chr6:101338728-101338729	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs548564455	chr6:101338785-101338786	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs9390700	chr6:101338808-101338809	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs150580633	chr6:101338872-101338873	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs554910818	chr6:101338908-101338909	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs202237076	chr6:101338941-101338942	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs397885535	chr6:101338951-101338952	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Autism	22543975	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101329800-101340600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:101330200-101340000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:101330400-101339000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:101330800-101339000	Weak transcription	K562	blood
5	chr6:101331600-101339000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:101331600-101340000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr6:101331600-101340000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:101333600-101339600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:101334200-101339000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:101334200-101339400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:101335000-101339200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:101335000-101339400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:101335400-101339000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:101335400-101339400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:101338400-101340600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr6:101339000-101339200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:101339000-101340200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:101339000-101340200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr6:101339000-101340400	Enhancers	K562	blood
20	chr6:101339000-101340600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr6:101339200-101340600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:101339200-101341200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr6:101339400-101339600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr6:101339400-101340200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:101339400-101340600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr6:101339400-101341200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr6:101339600-101340000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr6:101339600-101340800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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