Variant report

Variant	nsv521670
Chromosome Location	chr6:65921933-66009103
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:192)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:192 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr6:65934747-65934766	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr6:65970555-65970750	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr6:65969128-65969281	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr6:65969974-65970326	H1-hESC	embryonic stem cell:	n/a	chr6:65970271-65970283
5	CEBPB	chr6:65968981-65969345	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr6:65989228-65989353	HepG2	liver:	n/a	chr6:65989300-65989311 chr6:65989339-65989350
7	CHD2	chr6:65969943-65970228	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr6:65969120-65969270	HPF	lung:	n/a	n/a
9	CTCF	chr6:65969140-65969290	BE2_C	brain:	n/a	n/a
10	CTCF	chr6:65969120-65969270	HEEpiC	esophagus:	n/a	n/a
11	CTCF	chr6:65969040-65969190	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr6:65969080-65969230	Caco-2	colon:	n/a	n/a
13	CTCF	chr6:65961622-65961675	MCF-7	breast:	n/a	n/a
14	CTCF	chr6:65969040-65969190	HEK293	kidney:	n/a	n/a
15	CTCF	chr6:65969220-65969370	HAc	cerebellar:	n/a	n/a
16	CTCF	chr6:65969100-65969250	HMF	breast:	n/a	n/a
17	CTCF	chr6:65969100-65969250	MCF-7	breast:	n/a	n/a
18	CTCF	chr6:65969120-65969270	AG04450	lung:	n/a	n/a
19	CTCF	chr6:65969100-65969250	HRE	kidney:	n/a	n/a
20	CTCF	chr6:65969080-65969230	HMF	breast:	n/a	n/a
21	CTCF	chr6:65969079-65969258	Gliobla	brain:	n/a	n/a
22	CTCF	chr6:65969120-65969270	SAEC	small airway:	n/a	n/a
23	CTCF	chr6:65969018-65969330	IMR90	lung:	n/a	n/a
24	CTCF	chr6:65969080-65969230	HAc	cerebellar:	n/a	n/a
25	CTCF	chr6:65969074-65969150	LNCaP	prostate:	n/a	n/a
26	CTCF	chr6:65969100-65969250	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr6:65969060-65969247	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr6:65969080-65969230	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr6:65969073-65969270	HUVEC	blood vessel:	n/a	n/a
30	CTCF	chr6:65969060-65969210	HepG2	liver:	n/a	n/a
31	CTCF	chr6:65969000-65969150	NHDF-neo	bronchial:	n/a	n/a
32	CTCF	chr6:65969000-65969150	HRPEpiC	eye:	n/a	n/a
33	CTCF	chr6:65969040-65969190	AG04450	lung:	n/a	n/a
34	CTCF	chr6:65968980-65969130	HVMF	connective:	n/a	n/a
35	CTCF	chr6:65969100-65969250	HCFaa	heart:	n/a	n/a
36	CTCF	chr6:65969080-65969230	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr6:65969100-65969250	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr6:65969109-65969237	HepG2	liver:	n/a	n/a
39	CTCF	chr6:65969180-65969330	NHLF	lung:	n/a	n/a
40	CTCF	chr6:65969020-65969170	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr6:65969078-65969238	MCF-7	breast:	n/a	n/a
42	CTCF	chr6:65969040-65969190	GM12871	blood:	n/a	n/a
43	CTCF	chr6:65951244-65951276	GM20000	blood:	n/a	n/a
44	CTCF	chr6:65969080-65969230	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr6:65969060-65969210	HPF	lung:	n/a	n/a
46	CTCF	chr6:65969020-65969170	Caco-2	colon:	n/a	n/a
47	CTCF	chr6:65975318-65975374	GM20000	blood:	n/a	n/a
48	CTCF	chr6:65969040-65969190	RPTEC	kidney:	n/a	n/a
49	CTCF	chr6:65930340-65930490	AoAF	blood vessel:	n/a	n/a
50	CTCF	chr6:65969080-65969230	SAEC	small airway:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGSN-6	chr6:66005650-66006012	NONHSAT113369
2	lnc-LGSN-6	chr6:66005718-66006012	NONHSAT113370

No data

Variant related genes	Relation type
ENSG00000214558	TF binding region

Extended variants
information (count: 380 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558872838	chr6:65939028-65939029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs523089	chr6:65939102-65939103	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs113915370	chr6:65939110-65939111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553360434	chr6:65939141-65939142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116546041	chr6:65939152-65939153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542336593	chr6:65939153-65939154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562273466	chr6:65939161-65939162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576041116	chr6:65939162-65939163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs199706393	chr6:65939164-65939165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543312857	chr6:65939165-65939166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545229819	chr6:65939166-65939167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547588399	chr6:65939170-65939171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2788908	chr6:65939189-65939190	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs77155631	chr6:65939204-65939205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145338012	chr6:65939228-65939229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549560482	chr6:65939268-65939269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34471228	chr6:65939290-65939291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561285306	chr6:65939388-65939389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551106743	chr6:65939424-65939425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376769436	chr6:65939425-65939426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530143078	chr6:65939484-65939485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78360688	chr6:65939546-65939547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184926648	chr6:65939569-65939570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs496599	chr6:65939716-65939717	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs496597	chr6:65939720-65939721	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs137915892	chr6:65939722-65939723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142461238	chr6:65939741-65939742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535000552	chr6:65939748-65939749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554813542	chr6:65939749-65939750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574770890	chr6:65939753-65939754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535879151	chr6:65939807-65939808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189685090	chr6:65939815-65939816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs494707	chr6:65939917-65939918	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs573502132	chr6:65939929-65939930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182358624	chr6:65939984-65939985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565100276	chr6:65939995-65939996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186928535	chr6:65940009-65940010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145932033	chr6:65940082-65940083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561199504	chr6:65940166-65940167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191560967	chr6:65940179-65940180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113696975	chr6:65940181-65940182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550242708	chr6:65940197-65940198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374449241	chr6:65940208-65940209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183299892	chr6:65940225-65940226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2788907	chr6:65940233-65940234	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs9445486	chr6:65940241-65940242	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566283501	chr6:65940250-65940251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34230737	chr6:65940269-65940270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2639695	chr6:65940286-65940287	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs188670710	chr6:65940294-65940295	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65939000-65940400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:65939200-65940000	Enhancers	Fetal Lung	lung
3	chr6:65939200-65940400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:65939200-65940400	Enhancers	HUVEC	blood vessel
5	chr6:65939600-65940000	Enhancers	Colon Smooth Muscle	Colon
6	chr6:65939600-65940000	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr6:65940400-65941800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:65941600-65941800	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr6:65941800-65942200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:65961600-65962000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:65969000-65969800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:65969200-65969400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:65969200-65970600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr6:65969400-65970400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr6:65969400-65970800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:65969600-65969800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr6:65969600-65970400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr6:65969600-65971000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr6:65969800-65970000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr6:65970000-65970400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr6:65970000-65970400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:65970800-65971800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:65999000-66000200	Enhancers	HUVEC	blood vessel
24	chr6:66007600-66009400	Enhancers	HUVEC	blood vessel

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