Variant report

Variant	nsv965735
Chromosome Location	chr6:58468105-58525559
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	CEBPB	chr6:58506303-58506382	HepG2	liver:	n/a	n/a
2	CEBPB	chr6:58524581-58524685	IMR90	lung:	n/a	n/a
3	CEBPB	chr6:58524736-58524936	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr6:58507880-58508030	HEK293	kidney:	n/a	n/a
5	CTCF	chr6:58507900-58508050	GM06990	blood:	n/a	n/a
6	CTCF	chr6:58484138-58484189	MCF-7	breast:	n/a	n/a
7	CTCF	chr6:58507900-58508050	BJ	skin:	n/a	n/a
8	CTCF	chr6:58483524-58483602	LNCaP	prostate:	n/a	n/a
9	CTCF	chr6:58508032-58508292	GM10248	blood:	n/a	chr6:58508122-58508143 chr6:58508127-58508145
10	CTCF	chr6:58508026-58508280	LNCaP	prostate:	n/a	chr6:58508122-58508143 chr6:58508127-58508145
11	CTCF	chr6:58508274-58508280	K562	blood:	n/a	n/a
12	CTCF	chr6:58507900-58508050	AG10803	skin:	n/a	n/a
13	CTCF	chr6:58508029-58508217	MCF-7	breast:	n/a	chr6:58508122-58508143 chr6:58508127-58508145
14	CTCF	chr6:58507960-58508110	HA-sp	spinal cord:	n/a	n/a
15	CTCF	chr6:58507998-58508272	K562	blood:	n/a	chr6:58508122-58508143 chr6:58508127-58508145
16	CTCF	chr6:58508019-58508260	MCF-7	breast:	n/a	chr6:58508122-58508143 chr6:58508127-58508145
17	CTCF	chr6:58508050-58508181	NHEK	skin:	n/a	chr6:58508122-58508143 chr6:58508127-58508145
18	CTCF	chr6:58508016-58508262	GM13977	blood:	n/a	chr6:58508122-58508143 chr6:58508127-58508145
19	CTCF	chr6:58507900-58508050	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr6:58508260-58508410	AG10803	skin:	n/a	n/a
21	CTCF	chr6:58477972-58478011	GM13976	blood:	n/a	n/a
22	CTCF	chr6:58508028-58508254	Hela-S3	cervix:	n/a	chr6:58508122-58508143 chr6:58508127-58508145
23	CTCF	chr6:58508034-58508205	GM10266	blood:	n/a	chr6:58508122-58508143 chr6:58508127-58508145
24	CTCF	chr6:58507900-58508050	HRE	kidney:	n/a	n/a
25	CTCF	chr6:58471105-58471184	GM20000	blood:	n/a	n/a
26	CTCF	chr6:58483946-58483953	Spleen_OC	spleen:	n/a	n/a
27	CTCF	chr6:58507823-58507870	GM13977	blood:	n/a	n/a
28	CTCF	chr6:58504116-58504128	GM10248	blood:	n/a	n/a
29	CTCF	chr6:58509327-58509345	GM20000	blood:	n/a	n/a
30	CTCF	chr6:58507986-58508234	Gliobla	brain:	n/a	chr6:58508122-58508143 chr6:58508127-58508145
31	CTCF	chr6:58507900-58508050	NHEK	skin:	n/a	n/a
32	CTCF	chr6:58508301-58508309	GM10248	blood:	n/a	n/a
33	CTCF	chr6:58508744-58508793	GM10248	blood:	n/a	n/a
34	CTCF	chr6:58508028-58508265	Kidney_OC	kidney:	n/a	chr6:58508122-58508143 chr6:58508127-58508145
35	CTCF	chr6:58483898-58483942	Spleen_OC	spleen:	n/a	n/a
36	CTCF	chr6:58507723-58507856	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr6:58507900-58508050	HEEpiC	esophagus:	n/a	n/a
38	CTCF	chr6:58507880-58508030	HMF	breast:	n/a	n/a
39	CTCF	chr6:58481989-58482053	GM10248	blood:	n/a	n/a
40	CTCF	chr6:58508050-58508255	GM12878	blood:	n/a	chr6:58508122-58508143 chr6:58508127-58508145
41	CTCF	chr6:58507900-58508050	A549	lung:	n/a	n/a
42	CTCF	chr6:58507920-58508070	HVMF	connective:	n/a	n/a
43	CTCF	chr6:58471035-58471090	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr6:58508035-58508190	A549	lung:	n/a	chr6:58508122-58508143 chr6:58508127-58508145
45	CTCF	chr6:58508063-58508279	Lung_OC	lung:	n/a	chr6:58508122-58508143 chr6:58508127-58508145
46	CTCF	chr6:58511520-58511637	LNCaP	prostate:	n/a	n/a
47	CTCF	chr6:58508037-58508183	ProgFib	skin:	n/a	chr6:58508122-58508143 chr6:58508127-58508145
48	CTCF	chr6:58507900-58508050	AG09319	gingival:	n/a	n/a
49	CTCF	chr6:58507940-58508090	MCF-7	breast:	n/a	n/a
50	CTCF	chr6:58507800-58507950	SK-N-SH_RA	brain:	n/a	n/a

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

Variant related genes	Relation type
ENSG00000223633	TF binding region

Extended variants
information (count: 316 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

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:67)

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

Chromatin state (count:7 , 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

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