Variant report

Variant	nsv965644
Chromosome Location	chr6:58472709-58719682
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:244)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:58506303-58506382	HepG2	liver:	n/a	n/a
2	CEBPB	chr6:58524581-58524685	IMR90	lung:	n/a	n/a
3	CEBPB	chr6:58576509-58576728	HepG2	liver:	n/a	n/a
4	CEBPB	chr6:58524736-58524936	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr6:58507823-58507870	GM13977	blood:	n/a	n/a
6	CTCF	chr6:58692218-58692292	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr6:58542031-58542072	GM10248	blood:	n/a	n/a
8	CTCF	chr6:58659573-58659667	LNCaP	prostate:	n/a	n/a
9	CTCF	chr6:58507880-58508030	HMF	breast:	n/a	n/a
10	CTCF	chr6:58508301-58508309	GM10248	blood:	n/a	n/a
11	CTCF	chr6:58642123-58642176	GM10266	blood:	n/a	n/a
12	CTCF	chr6:58563669-58563747	NHEK	skin:	n/a	n/a
13	CTCF	chr6:58708920-58708982	Medullo	brain:	n/a	n/a
14	CTCF	chr6:58508050-58508181	NHEK	skin:	n/a	chr6:58508122-58508143 chr6:58508127-58508145
15	CTCF	chr6:58542832-58542889	GM13976	blood:	n/a	n/a
16	CTCF	chr6:58618834-58618888	GM13976	blood:	n/a	n/a
17	CTCF	chr6:58507900-58508050	HEEpiC	esophagus:	n/a	n/a
18	CTCF	chr6:58507900-58508050	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr6:58669851-58669858	LNCaP	prostate:	n/a	n/a
20	CTCF	chr6:58508034-58508205	GM10266	blood:	n/a	chr6:58508122-58508143 chr6:58508127-58508145
21	CTCF	chr6:58563660-58563810	NHEK	skin:	n/a	n/a
22	CTCF	chr6:58682357-58682391	GM20000	blood:	n/a	n/a
23	CTCF	chr6:58507900-58508050	BJ	skin:	n/a	n/a
24	CTCF	chr6:58507960-58508110	HA-sp	spinal cord:	n/a	n/a
25	CTCF	chr6:58507985-58508265	GM20000	blood:	n/a	chr6:58508122-58508143 chr6:58508127-58508145
26	CTCF	chr6:58512598-58512652	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr6:58481989-58482053	GM10248	blood:	n/a	n/a
28	CTCF	chr6:58698041-58698099	ProgFib	skin:	n/a	n/a
29	CTCF	chr6:58534466-58534487	GM10248	blood:	n/a	n/a
30	CTCF	chr6:58507900-58508050	RPTEC	kidney:	n/a	n/a
31	CTCF	chr6:58508063-58508279	Lung_OC	lung:	n/a	chr6:58508122-58508143 chr6:58508127-58508145
32	CTCF	chr6:58508029-58508217	MCF-7	breast:	n/a	chr6:58508122-58508143 chr6:58508127-58508145
33	CTCF	chr6:58477972-58478011	GM13976	blood:	n/a	n/a
34	CTCF	chr6:58526665-58526743	GM10266	blood:	n/a	n/a
35	CTCF	chr6:58507900-58508050	GM06990	blood:	n/a	n/a
36	CTCF	chr6:58508102-58508211	GM13976	blood:	n/a	chr6:58508122-58508143 chr6:58508127-58508145
37	CTCF	chr6:58508028-58508265	Kidney_OC	kidney:	n/a	chr6:58508122-58508143 chr6:58508127-58508145
38	CTCF	chr6:58710713-58710741	Fibrobl	skin:	n/a	n/a
39	CTCF	chr6:58531964-58531993	LNCaP	prostate:	n/a	n/a
40	CTCF	chr6:58689626-58689700	LNCaP	prostate:	n/a	n/a
41	CTCF	chr6:58507900-58508050	HCT-116	colon:	n/a	n/a
42	CTCF	chr6:58634298-58634352	ProgFib	skin:	n/a	n/a
43	CTCF	chr6:58483898-58483942	Spleen_OC	spleen:	n/a	n/a
44	CTCF	chr6:58508021-58508277	LNCaP	prostate:	n/a	chr6:58508122-58508143 chr6:58508127-58508145
45	CTCF	chr6:58484138-58484189	MCF-7	breast:	n/a	n/a
46	CTCF	chr6:58507986-58508234	Gliobla	brain:	n/a	chr6:58508122-58508143 chr6:58508127-58508145
47	CTCF	chr6:58716092-58716129	GM13976	blood:	n/a	n/a
48	CTCF	chr6:58608040-58608190	HEK293	kidney:	n/a	n/a
49	CTCF	chr6:58542083-58542087	GM10248	blood:	n/a	n/a
50	CTCF	chr6:58477235-58477305	GM20000	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:58584053-58584103	SKMC	muscle:	n/a
2	chr6:58584053-58584103	SK-N-MC	brain:	n/a
3	chr6:58584053-58584103	BJ	skin:	n/a
4	chr6:58584053-58584103	BE2_C	brain:	n/a
5	chr6:58584053-58584103	LNCaP	prostate:	n/a
6	chr6:58584053-58584103	IMR90	lung:	fetal
7	chr6:58584053-58584103	ovcar-3	ovarian:	n/a
8	chr6:58584053-58584103	NB4	blood:	n/a
9	chr6:58584053-58584103	HIPEpiC	eye:	n/a
10	chr6:58584053-58584103	HCF	heart:	n/a
11	chr6:58584053-58584103	PANC-1	pancreas:	n/a
12	chr6:58584053-58584103	HCPEpiC	choroid plexus:	n/a
13	chr6:58584053-58584103	GM06990	blood:	n/a
14	chr6:58584053-58584103	SK-N-SH_RA	brain:	n/a
15	chr6:58584053-58584103	HAEpiC	amniotic membrane:	n/a
16	chr6:58584053-58584103	AoSMC	blood vessel:	n/a
17	chr6:58584053-58584103	MCF-7	breast:	n/a
18	chr6:58584053-58584103	HMEC	breast:	n/a
19	chr6:58584053-58584103	AG09309	skin:	n/a
20	chr6:58584053-58584103	Hela-S3	cervix:	n/a
21	chr6:58584053-58584103	AG09319	gingival:	n/a
22	chr6:58584053-58584103	HCT-116	colon:	n/a
23	chr6:58584053-58584103	PFSK-1	brain:	n/a
24	chr6:58584053-58584103	NH-A	brain:	n/a
25	chr6:58584053-58584103	AG04450	lung:	fetal
26	chr6:58584053-58584103	ECC-1	luminal epithelium:	n/a
27	chr6:58584053-58584103	T-47D	breast:	n/a
28	chr6:58584053-58584103	SK-N-SH	brain:	n/a
29	chr6:58584053-58584103	HRCEpiC	kidney:	n/a
30	chr6:58584053-58584103	GM12878	blood:	n/a
31	chr6:58584053-58584103	Jurkat	blood:	n/a
32	chr6:58584053-58584103	HPAEpiC	pulmonary alveolar:	n/a
33	chr6:58584053-58584103	NHBE	bronchial:	n/a
34	chr6:58584053-58584103	AG10803	skin:	n/a
35	chr6:58584053-58584103	HEEpiC	esophagus:	n/a
36	chr6:58584053-58584103	U87	brain:	n/a
37	chr6:58584053-58584103	HRPEpiC	eye:	n/a
38	chr6:58584053-58584103	HEK293	kidney:	embryo
39	chr6:58584053-58584103	RPTEC	kidney:	n/a
40	chr6:58584053-58584103	CMK	blood:	n/a
41	chr6:58584053-58584103	HNPCEpiC	eye:	n/a
42	chr6:58584053-58584103	H1-hESC	embryonic stem cell:	embryo
43	chr6:58584053-58584103	Caco-2	colon:	n/a
44	chr6:58584053-58584103	GM19239	blood:	n/a
45	chr6:58584053-58584103	HepG2	liver:	n/a
46	chr6:58584053-58584103	Hepatocyte	liver:	n/a
47	chr6:58584053-58584103	GM12892	blood:	n/a
48	chr6:58584053-58584103	GM12891	blood:	n/a
49	chr6:58584053-58584103	MCF10A-Er-Src	breast:	n/a
50	chr6:58584053-58584103	SAEC	small airway:	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAG2-7	chr6:58513504-58513860	ENSG00000223633.2
2	lnc-BAG2-7	chr6:58488888-58489027	ENSG00000223633.2
3	lnc-BAG2-7	chr6:58488888-58489027	ENSG00000223633.1

No data

Variant related genes	Relation type
ENSG00000223633	TF binding region
ENSG00000223633	CpG island

Extended variants
information (count: 580 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:580 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563341982	chr6:58483936-58483937	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs201045397	chr6:58484138-58484139	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs532299798	chr6:58484168-58484169	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs578081045	chr6:58485060-58485061	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs568157246	chr6:58485068-58485069	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs557988172	chr6:58485069-58485070	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs190910330	chr6:58485093-58485094	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs114440404	chr6:58485100-58485101	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs547887852	chr6:58488916-58488917	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs576877828	chr6:58488938-58488939	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs550097723	chr6:58488953-58488954	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs140910007	chr6:58488956-58488957	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs558625482	chr6:58513606-58513607	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs577018775	chr6:58513646-58513647	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs142735780	chr6:58513654-58513655	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs559354933	chr6:58513683-58513684	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs574604272	chr6:58513684-58513685	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs541970818	chr6:58513691-58513692	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs563390241	chr6:58513708-58513709	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs531061255	chr6:58513712-58513713	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs552693634	chr6:58513787-58513788	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs528221860	chr6:58513835-58513836	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs374927122	chr6:58518449-58518450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187532948	chr6:58518466-58518467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558875625	chr6:58518520-58518521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190072984	chr6:58518551-58518552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541022541	chr6:58518601-58518602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559491149	chr6:58518634-58518635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs3121973	chr6:58518676-58518677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574431850	chr6:58518681-58518682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs3121972	chr6:58518701-58518702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542071295	chr6:58518786-58518787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144971493	chr6:58518789-58518790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573083674	chr6:58518803-58518804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530997970	chr6:58518842-58518843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546131815	chr6:58518884-58518885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542130074	chr6:58518902-58518903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564439703	chr6:58518935-58518936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528470240	chr6:58518977-58518978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs60599657	chr6:58518983-58518984	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs182629578	chr6:58518987-58518988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs3121969	chr6:58519036-58519037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9500121	chr6:58519083-58519084	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs3121968	chr6:58519084-58519085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs17092150	chr6:58519085-58519086	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs544377366	chr6:58519098-58519099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569865623	chr6:58519107-58519108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs3121967	chr6:58519112-58519113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9500122	chr6:58519123-58519124	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs373305034	chr6:58519178-58519179	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	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
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58518400-58519600	Enhancers	NHEK	skin
2	chr6:58519200-58520000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr6:58519600-58520200	Active TSS	NHEK	skin
4	chr6:58519800-58520200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:58520200-58524000	Weak transcription	NHEK	skin
6	chr6:58522000-58522200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:58524000-58525800	Enhancers	NHEK	skin
8	chr6:58591000-58591400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:58607000-58607400	Active TSS	Stomach Mucosa	stomach
10	chr6:58614800-58617800	Enhancers	NHEK	skin
11	chr6:58668600-58669200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:58684400-58685400	Enhancers	NHEK	skin

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