Variant report

Variant	nsv470823
Chromosome Location	chr6:65969239-66052674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:247)
CpG islands
(count:244)
Chromatin interactive
region (count:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:247 , 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	ARID3A	chr6:66049641-66049730	HepG2	liver:	n/a	n/a
2	BRCA1	chr6:65970555-65970750	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr6:66037858-66038164	HepG2	liver:	n/a	chr6:66037990-66038001
4	CEBPB	chr6:65969974-65970326	H1-hESC	embryonic stem cell:	n/a	chr6:65970271-65970283
5	CEBPB	chr6:65969128-65969281	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr6:65989228-65989353	HepG2	liver:	n/a	chr6:65989300-65989311 chr6:65989339-65989350
7	CEBPB	chr6:66010665-66010970	HepG2	liver:	n/a	chr6:66010782-66010793
8	CEBPB	chr6:66010691-66010956	K562	blood:	n/a	chr6:66010782-66010793
9	CEBPB	chr6:66037840-66038160	IMR90	lung:	n/a	chr6:66037990-66038001
10	CEBPB	chr6:66010679-66010939	K562	blood:	n/a	chr6:66010782-66010793
11	CEBPB	chr6:66037851-66038095	A549	lung:	n/a	chr6:66037990-66038001
12	CEBPB	chr6:65968981-65969345	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr6:65969943-65970228	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr6:65969140-65969290	BE2_C	brain:	n/a	n/a
15	CTCF	chr6:65969180-65969330	NHLF	lung:	n/a	n/a
16	CTCF	chr6:65969100-65969250	HPAF	blood vessel:	n/a	n/a
17	CTCF	chr6:65969120-65969270	NB4	blood:	n/a	n/a
18	CTCF	chr6:65969100-65969250	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr6:65969018-65969330	IMR90	lung:	n/a	n/a
20	CTCF	chr6:65969120-65969270	HEEpiC	esophagus:	n/a	n/a
21	CTCF	chr6:65969100-65969250	HCFaa	heart:	n/a	n/a
22	CTCF	chr6:65969100-65969250	HEK293	kidney:	n/a	n/a
23	CTCF	chr6:66046014-66046020	GM20000	blood:	n/a	n/a
24	CTCF	chr6:65969100-65969250	NHEK	skin:	n/a	n/a
25	CTCF	chr6:65969220-65969370	HAc	cerebellar:	n/a	n/a
26	CTCF	chr6:65969100-65969250	HepG2	liver:	n/a	n/a
27	CTCF	chr6:66037034-66037060	GM13976	blood:	n/a	n/a
28	CTCF	chr6:66033875-66033906	MCF-7	breast:	n/a	n/a
29	CTCF	chr6:65969120-65969270	SAEC	small airway:	n/a	n/a
30	CTCF	chr6:65975318-65975374	GM20000	blood:	n/a	n/a
31	CTCF	chr6:65969100-65969250	HRE	kidney:	n/a	n/a
32	CTCF	chr6:65969100-65969250	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr6:65969120-65969270	AG04450	lung:	n/a	n/a
34	CTCF	chr6:65969120-65969270	HPF	lung:	n/a	n/a
35	CTCF	chr6:66046021-66046070	GM20000	blood:	n/a	n/a
36	CTCF	chr6:65969100-65969250	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr6:65984860-65985010	HepG2	liver:	n/a	n/a
38	CTCF	chr6:65969069-65969259	MCF-7	breast:	n/a	n/a
39	CTCF	chr6:65969100-65969250	MCF-7	breast:	n/a	n/a
40	CTCF	chr6:66012277-66012341	Lung_OC	lung:	n/a	n/a
41	CTCF	chr6:66034816-66034887	Lung_OC	lung:	n/a	n/a
42	CTCF	chr6:65969060-65969247	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr6:65969079-65969258	Gliobla	brain:	n/a	n/a
44	CTCF	chr6:66028325-66028381	GM13976	blood:	n/a	n/a
45	CTCF	chr6:65969073-65969270	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr6:65969100-65969250	HMF	breast:	n/a	n/a
47	CTCF	chr6:66045931-66045981	ProgFib	skin:	n/a	n/a
48	CUX1	chr6:65975059-65975063	K562	blood:	n/a	n/a
49	E2F4	chr6:66010775-66010842	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr6:65969120-65969304	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:66010172-66010222	BE2_C	brain:	n/a
2	chr6:66013901-66013951	MCF-7	breast:	n/a
3	chr6:66011626-66011676	IMR90	lung:	fetal
4	chr6:66011288-66011338	GM12892	blood:	n/a
5	chr6:66011288-66011338	AG09309	skin:	n/a
6	chr6:66011626-66011676	BE2_C	brain:	n/a
7	chr6:66010172-66010222	ProgFib	skin:	n/a
8	chr6:66011626-66011676	HCM	heart:	n/a
9	chr6:66011626-66011676	U87	brain:	n/a
10	chr6:66011626-66011676	A549	lung:	n/a
11	chr6:66011288-66011338	GM12891	blood:	n/a
12	chr6:66010172-66010222	Hepatocyte	liver:	n/a
13	chr6:66013901-66013951	T-47D	breast:	n/a
14	chr6:66010172-66010222	HL-60	blood:	n/a
15	chr6:66011626-66011676	GM06990	blood:	n/a
16	chr6:66010172-66010222	U87	brain:	n/a
17	chr6:66010172-66010222	PANC-1	pancreas:	n/a
18	chr6:66011288-66011338	H1-hESC	embryonic stem cell:	embryo
19	chr6:66010172-66010222	HPAEpiC	pulmonary alveolar:	n/a
20	chr6:66010172-66010222	T-47D	breast:	n/a
21	chr6:66011626-66011676	Caco-2	colon:	n/a
22	chr6:66010172-66010222	HIPEpiC	eye:	n/a
23	chr6:66010172-66010222	NB4	blood:	n/a
24	chr6:66013901-66013951	SKMC	muscle:	n/a
25	chr6:66010172-66010222	HCM	heart:	n/a
26	chr6:66010172-66010222	HRE	kidney:	n/a
27	chr6:66010172-66010222	HEK293	kidney:	embryo
28	chr6:66011626-66011676	HCF	heart:	n/a
29	chr6:66011288-66011338	HUVEC	blood vessel:	n/a
30	chr6:66010172-66010222	GM19239	blood:	n/a
31	chr6:66010172-66010222	IMR90	lung:	fetal
32	chr6:66011626-66011676	HRCEpiC	kidney:	n/a
33	chr6:66010172-66010222	HUVEC	blood vessel:	n/a
34	chr6:66011626-66011676	Hepatocyte	liver:	n/a
35	chr6:66013901-66013951	K562	blood:	n/a
36	chr6:66013901-66013951	ovcar-3	ovarian:	n/a
37	chr6:66011288-66011338	SAEC	small airway:	n/a
38	chr6:66011288-66011338	IMR90	lung:	fetal
39	chr6:66011288-66011338	MCF10A-Er-Src	breast:	n/a
40	chr6:66013901-66013951	A549	lung:	n/a
41	chr6:66013901-66013951	SK-N-SH_RA	brain:	n/a
42	chr6:66011626-66011676	HCPEpiC	choroid plexus:	n/a
43	chr6:66010172-66010222	CMK	blood:	n/a
44	chr6:66011288-66011338	HRCEpiC	kidney:	n/a
45	chr6:66011626-66011676	SK-N-MC	brain:	n/a
46	chr6:66011288-66011338	HepG2	liver:	n/a
47	chr6:66010172-66010222	HRPEpiC	eye:	n/a
48	chr6:66011288-66011338	Caco-2	colon:	n/a
49	chr6:66011626-66011676	GM12892	blood:	n/a
50	chr6:66010172-66010222	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:66051771..66054306-chr6:66063446..66065850,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGSN-6	chr6:66012701-66012830	NONHSAT113370
2	lnc-LGSN-6	chr6:66010740-66010831	NONHSAT113370
3	lnc-LGSN-6	chr6:66005650-66006012	NONHSAT113369
4	lnc-LGSN-6	chr6:66012701-66012904	NONHSAT113369
5	lnc-LGSN-6	chr6:66005718-66006012	NONHSAT113370

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	EYS	hsa-miR-124-3p	chr6:66040931-66040951

Variant related genes	Relation type
EYS	TF binding region
ENSG00000214558	TF binding region
EYS	CpG island
ENSG00000214558	CpG island

Extended variants
information (count: 350 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:350 , 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	rs536372	chr6:65969239-65969240	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371043867	chr6:65969261-65969262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528245602	chr6:65969297-65969298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551596885	chr6:65969307-65969308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369958243	chr6:65969329-65969330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572771528	chr6:65969337-65969338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187130613	chr6:65969345-65969346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115918586	chr6:65969376-65969377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530811855	chr6:65969449-65969450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74797972	chr6:65969460-65969461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370238828	chr6:65969465-65969466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373463683	chr6:65969523-65969524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148636102	chr6:65969533-65969534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368529833	chr6:65969603-65969604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115445599	chr6:65969621-65969622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs697304	chr6:65969644-65969645	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs73443111	chr6:65969661-65969662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534329553	chr6:65969668-65969669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12212937	chr6:65969675-65969676	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs77317736	chr6:65969728-65969729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569531427	chr6:65969739-65969740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536688919	chr6:65969740-65969741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544045479	chr6:65969815-65969816	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs72883272	chr6:65969854-65969855	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs182451362	chr6:65969855-65969856	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs73741283	chr6:65969870-65969871	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs146165118	chr6:65969886-65969887	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs140185554	chr6:65969904-65969905	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs187869406	chr6:65969963-65969964	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs189940294	chr6:65969979-65969980	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs182484276	chr6:65969993-65969994	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs544312134	chr6:65969999-65970000	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs552891336	chr6:65970029-65970030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143752370	chr6:65970035-65970036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533335775	chr6:65970078-65970079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs151305903	chr6:65970084-65970085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377537683	chr6:65970085-65970086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572963810	chr6:65970094-65970095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140480632	chr6:65970105-65970106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549546148	chr6:65970137-65970138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571189837	chr6:65970168-65970169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150018889	chr6:65970184-65970185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145175670	chr6:65970207-65970208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544503477	chr6:65970230-65970231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142379406	chr6:65970267-65970268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570130000	chr6:65970277-65970278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538438652	chr6:65970323-65970324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556836860	chr6:65970375-65970376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539009417	chr6:65970414-65970415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146133123	chr6:65970425-65970426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65969000-65969800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:65969200-65969400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:65969200-65970600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr6:65969400-65970400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:65969400-65970800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:65969600-65969800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr6:65969600-65970400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:65969600-65971000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr6:65969800-65970000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr6:65970000-65970400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:65970000-65970400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:65970800-65971800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:65999000-66000200	Enhancers	HUVEC	blood vessel
14	chr6:66007600-66009400	Enhancers	HUVEC	blood vessel
15	chr6:66028600-66028800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:66045000-66045800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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