Variant report

Variant	nsv981116
Chromosome Location	chr6:26857981-26868762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:488)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr6:26862361-26862777	K562	blood:	n/a	n/a
2	CEBPB	chr6:26862466-26862687	K562	blood:	n/a	n/a
3	CEBPB	chr6:26862399-26862800	K562	blood:	n/a	n/a
4	CEBPD	chr6:26862389-26862785	K562	blood:	n/a	n/a
5	CTCF	chr6:26862352-26862698	K562	blood:	n/a	n/a
6	CTCF	chr6:26862255-26862659	K562	blood:	n/a	n/a
7	CTCF	chr6:26862290-26862757	K562	blood:	n/a	n/a
8	CTCF	chr6:26867258-26867342	GM13976	blood:	n/a	n/a
9	FOXA1	chr6:26858126-26858442	HepG2	liver:	n/a	n/a
10	GABPA	chr6:26863432-26863596	Hela-S3	cervix:	n/a	n/a
11	GABPA	chr6:26867321-26867542	Hela-S3	cervix:	n/a	n/a
12	NR2F2	chr6:26862424-26862771	K562	blood:	n/a	n/a
13	PAX5	chr6:26863349-26863606	GM12878	blood:	n/a	n/a
14	PAX5	chr6:26863298-26863693	GM12878	blood:	n/a	n/a
15	PBX3	chr6:26868519-26868665	GM12878	blood:	n/a	n/a
16	PBX3	chr6:26858272-26858414	GM12878	blood:	n/a	n/a
17	POLR2A	chr6:26863356-26863615	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr6:26861030-26861150	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr6:26867314-26867614	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr6:26863255-26863690	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:26863305-26863635	Hela-S3	cervix:	n/a	n/a
22	POU2F2	chr6:26867293-26867572	GM12878	blood:	n/a	n/a
23	POU2F2	chr6:26863307-26863568	GM12878	blood:	n/a	n/a
24	POU2F2	chr6:26858325-26858444	GM12878	blood:	n/a	n/a
25	SP1	chr6:26858234-26858483	GM12878	blood:	n/a	n/a
26	SPI1	chr6:26862173-26862317	K562	blood:	n/a	n/a
27	TCF12	chr6:26863403-26863652	GM12878	blood:	n/a	n/a
28	TCF3	chr6:26863329-26863677	GM12878	blood:	n/a	chr6:26863443-26863453
29	ZBTB33	chr6:26863411-26863760	K562	blood:	n/a	chr6:26863723-26863732
30	ZBTB33	chr6:26863325-26863723	K562	blood:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:26865740-26865790	PFSK-1	brain:	n/a
2	chr6:26860451-26860501	HCM	heart:	n/a
3	chr6:26865740-26865790	HCPEpiC	choroid plexus:	n/a
4	chr6:26867420-26867470	SK-N-SH	brain:	n/a
5	chr6:26864778-26864828	BJ	skin:	n/a
6	chr6:26864778-26864828	H1-hESC	embryonic stem cell:	embryo
7	chr6:26865862-26865912	AG10803	skin:	n/a
8	chr6:26863335-26863385	ProgFib	skin:	n/a
9	chr6:26863335-26863385	HNPCEpiC	eye:	n/a
10	chr6:26865740-26865790	BE2_C	brain:	n/a
11	chr6:26865740-26865790	AG09319	gingival:	n/a
12	chr6:26865862-26865912	ProgFib	skin:	n/a
13	chr6:26864778-26864828	A549	lung:	n/a
14	chr6:26863335-26863385	HRCEpiC	kidney:	n/a
15	chr6:26865740-26865790	IMR90	lung:	fetal
16	chr6:26867420-26867470	AG04449	skin:	fetal
17	chr6:26865862-26865912	NB4	blood:	n/a
18	chr6:26865740-26865790	HCT-116	colon:	n/a
19	chr6:26865740-26865790	AG04449	skin:	fetal
20	chr6:26867420-26867470	NHBE	bronchial:	n/a
21	chr6:26867420-26867470	AG09309	skin:	n/a
22	chr6:26867420-26867470	H1-hESC	embryonic stem cell:	embryo
23	chr6:26867420-26867470	K562	blood:	n/a
24	chr6:26865794-26865844	PFSK-1	brain:	n/a
25	chr6:26863643-26863693	GM12891	blood:	n/a
26	chr6:26865794-26865844	MCF10A-Er-Src	breast:	n/a
27	chr6:26863643-26863693	Jurkat	blood:	n/a
28	chr6:26864778-26864828	AoSMC	blood vessel:	n/a
29	chr6:26863643-26863693	HRPEpiC	eye:	n/a
30	chr6:26867420-26867470	Hela-S3	cervix:	n/a
31	chr6:26865740-26865790	Hela-S3	cervix:	n/a
32	chr6:26867420-26867470	PANC-1	pancreas:	n/a
33	chr6:26865794-26865844	NT2-D1	testis:	n/a
34	chr6:26865740-26865790	H1-hESC	embryonic stem cell:	embryo
35	chr6:26863335-26863385	NHBE	bronchial:	n/a
36	chr6:26865862-26865912	SAEC	small airway:	n/a
37	chr6:26863643-26863693	HepG2	liver:	n/a
38	chr6:26863335-26863385	Hela-S3	cervix:	n/a
39	chr6:26860451-26860501	HNPCEpiC	eye:	n/a
40	chr6:26863335-26863385	AoSMC	blood vessel:	n/a
41	chr6:26863335-26863385	HCPEpiC	choroid plexus:	n/a
42	chr6:26860451-26860501	NHDF-neo	bronchial:	n/a
43	chr6:26860451-26860501	NH-A	brain:	n/a
44	chr6:26860451-26860501	MCF10A-Er-Src	breast:	n/a
45	chr6:26865740-26865790	HMEC	breast:	n/a
46	chr6:26865862-26865912	SK-N-MC	brain:	n/a
47	chr6:26863643-26863693	CMK	blood:	n/a
48	chr6:26867420-26867470	NHDF-neo	bronchial:	n/a
49	chr6:26865862-26865912	AG04450	lung:	fetal
50	chr6:26863643-26863693	GM06990	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIST1H2AG-6	chr6:26865674-26866556	NONHSAT108314

No data

Variant related genes	Relation type
GUSBP2	TF binding region
ENSG00000243307	TF binding region
GUSBP2	CpG island
ENSG00000243307	CpG island

Extended variants
information (count: 477 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:477 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75528464	chr6:26858016-26858017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534727116	chr6:26858017-26858018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370099396	chr6:26858031-26858032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10214927	chr6:26858032-26858033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549685745	chr6:26858063-26858064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200086893	chr6:26858103-26858104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10214924	chr6:26858109-26858110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10214678	chr6:26858112-26858113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551357437	chr6:26858113-26858114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373809465	chr6:26858125-26858126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571268331	chr6:26858159-26858160	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs537739903	chr6:26858187-26858188	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs557668435	chr6:26858210-26858211	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs9295709	chr6:26858220-26858221	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs370926630	chr6:26858221-26858222	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs10214417	chr6:26858261-26858262	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs533351798	chr6:26858268-26858269	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs141658974	chr6:26858270-26858271	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs139400474	chr6:26858272-26858273	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs142853593	chr6:26858318-26858319	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs200196409	chr6:26858368-26858369	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs200831510	chr6:26858378-26858379	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs201796918	chr6:26858424-26858425	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs536825225	chr6:26858425-26858426	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs200583614	chr6:26858432-26858433	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs201659484	chr6:26858440-26858441	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs572961216	chr6:26858453-26858454	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs200139853	chr6:26858463-26858464	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs70981114	chr6:26858489-26858490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10214418	chr6:26858513-26858514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3925440	chr6:26858527-26858528	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
32	rs558523533	chr6:26858528-26858529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150883641	chr6:26858543-26858544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534070030	chr6:26858586-26858587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368178630	chr6:26858588-26858589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372130933	chr6:26858616-26858617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543337571	chr6:26858653-26858654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563628778	chr6:26858666-26858667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185844552	chr6:26858667-26858668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139372375	chr6:26858678-26858679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368093003	chr6:26858721-26858722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111642909	chr6:26858730-26858731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572780099	chr6:26858762-26858763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376439589	chr6:26858797-26858798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12181157	chr6:26858818-26858819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551549073	chr6:26858880-26858881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189825017	chr6:26858899-26858900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12177897	chr6:26858906-26858907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374707018	chr6:26858927-26858928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199620037	chr6:26858936-26858937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Williams-beuren syndrome	16971481	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	21569311	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21509527	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26838000-26866200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:26841400-26866200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:26844400-26865800	Weak transcription	Ovary	ovary
4	chr6:26844400-26872000	Weak transcription	Fetal Intestine Small	intestine
5	chr6:26845000-26864200	Weak transcription	Pancreas	Pancrea
6	chr6:26849200-26866800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:26849400-26866600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:26849800-26864200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:26850400-26865000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:26852000-26866200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:26853600-26864000	Weak transcription	Fetal Stomach	stomach
12	chr6:26861400-26865800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr6:26862000-26862200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:26862200-26866600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:26864000-26864600	ZNF genes & repeats	Fetal Stomach	stomach
16	chr6:26864200-26864600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:26864200-26864600	Enhancers	Pancreas	Pancrea
18	chr6:26864400-26866600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr6:26865800-26867600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr6:26866400-26867000	Enhancers	Fetal Muscle Leg	muscle
21	chr6:26866600-26866800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:26866600-26867200	Enhancers	Fetal Muscle Trunk	muscle
23	chr6:26866600-26867400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:26866800-26867000	Enhancers	Skeletal Muscle Male	skeletal muscle

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