Variant report

Variant	nsv516417
Chromosome Location	chr6:65952526-66083780
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:339)
CpG islands
(count:244)
Chromatin interactive
region (count:6)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:339 , 50 per page) page: 1 2 3 4 5 6 7

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	BACH1	chr6:66066175-66066268	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr6:65970555-65970750	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr6:65969128-65969281	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr6:66010691-66010956	K562	blood:	n/a	chr6:66010782-66010793
6	CEBPB	chr6:66010665-66010970	HepG2	liver:	n/a	chr6:66010782-66010793
7	CEBPB	chr6:66064245-66064517	Hela-S3	cervix:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
8	CEBPB	chr6:65968981-65969345	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr6:66064211-66064491	A549	lung:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
10	CEBPB	chr6:66064204-66064473	IMR90	lung:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
11	CEBPB	chr6:66010679-66010939	K562	blood:	n/a	chr6:66010782-66010793
12	CEBPB	chr6:65989228-65989353	HepG2	liver:	n/a	chr6:65989300-65989311 chr6:65989339-65989350
13	CEBPB	chr6:66064226-66064435	H1-hESC	embryonic stem cell:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
14	CEBPB	chr6:66037858-66038164	HepG2	liver:	n/a	chr6:66037990-66038001
15	CEBPB	chr6:66064262-66064425	K562	blood:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
16	CEBPB	chr6:65969974-65970326	H1-hESC	embryonic stem cell:	n/a	chr6:65970271-65970283
17	CEBPB	chr6:66066493-66066779	HepG2	liver:	n/a	chr6:66066621-66066632
18	CEBPB	chr6:66037840-66038160	IMR90	lung:	n/a	chr6:66037990-66038001
19	CEBPB	chr6:66064192-66064538	HepG2	liver:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
20	CEBPB	chr6:66037851-66038095	A549	lung:	n/a	chr6:66037990-66038001
21	CEBPD	chr6:66076790-66077115	K562	blood:	n/a	n/a
22	CHD2	chr6:65969943-65970228	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr6:66046021-66046070	GM20000	blood:	n/a	n/a
24	CTCF	chr6:65969080-65969230	Caco-2	colon:	n/a	n/a
25	CTCF	chr6:65969080-65969230	HAc	cerebellar:	n/a	n/a
26	CTCF	chr6:65969060-65969210	BE2_C	brain:	n/a	n/a
27	CTCF	chr6:65969069-65969259	MCF-7	breast:	n/a	n/a
28	CTCF	chr6:65961622-65961675	MCF-7	breast:	n/a	n/a
29	CTCF	chr6:65969140-65969290	BE2_C	brain:	n/a	n/a
30	CTCF	chr6:65969080-65969230	HA-sp	spinal cord:	n/a	n/a
31	CTCF	chr6:65969100-65969250	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr6:66073240-66073390	AG09319	gingival:	n/a	n/a
33	CTCF	chr6:66033875-66033906	MCF-7	breast:	n/a	n/a
34	CTCF	chr6:65969120-65969270	HEEpiC	esophagus:	n/a	n/a
35	CTCF	chr6:65969020-65969170	Caco-2	colon:	n/a	n/a
36	CTCF	chr6:65969060-65969210	HPF	lung:	n/a	n/a
37	CTCF	chr6:65969100-65969250	NHEK	skin:	n/a	n/a
38	CTCF	chr6:66046014-66046020	GM20000	blood:	n/a	n/a
39	CTCF	chr6:66037034-66037060	GM13976	blood:	n/a	n/a
40	CTCF	chr6:65969000-65969150	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr6:65969100-65969250	HepG2	liver:	n/a	n/a
42	CTCF	chr6:65969040-65969190	HEK293	kidney:	n/a	n/a
43	CTCF	chr6:65969080-65969230	RPTEC	kidney:	n/a	n/a
44	CTCF	chr6:66028325-66028381	GM13976	blood:	n/a	n/a
45	CTCF	chr6:65969040-65969190	GM12871	blood:	n/a	n/a
46	CTCF	chr6:65969040-65969190	RPTEC	kidney:	n/a	n/a
47	CTCF	chr6:65969220-65969370	HAc	cerebellar:	n/a	n/a
48	CTCF	chr6:65969080-65969230	HMF	breast:	n/a	n/a
49	CTCF	chr6:65975318-65975374	GM20000	blood:	n/a	n/a
50	CTCF	chr6:65969080-65969230	HPAF	blood vessel:	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	chr6:66013901-66013951	PFSK-1	brain:	n/a
2	chr6:66011626-66011676	HRPEpiC	eye:	n/a
3	chr6:66011288-66011338	HRCEpiC	kidney:	n/a
4	chr6:66011626-66011676	NB4	blood:	n/a
5	chr6:66013901-66013951	CMK	blood:	n/a
6	chr6:66010172-66010222	GM12892	blood:	n/a
7	chr6:66011288-66011338	T-47D	breast:	n/a
8	chr6:66011626-66011676	NHBE	bronchial:	n/a
9	chr6:66010172-66010222	HCPEpiC	choroid plexus:	n/a
10	chr6:66010172-66010222	HCF	heart:	n/a
11	chr6:66013901-66013951	HRPEpiC	eye:	n/a
12	chr6:66013901-66013951	AoSMC	blood vessel:	n/a
13	chr6:66013901-66013951	HEK293	kidney:	embryo
14	chr6:66010172-66010222	AG04450	lung:	fetal
15	chr6:66010172-66010222	ECC-1	luminal epithelium:	n/a
16	chr6:66011626-66011676	T-47D	breast:	n/a
17	chr6:66010172-66010222	RPTEC	kidney:	n/a
18	chr6:66011626-66011676	AG04449	skin:	fetal
19	chr6:66011626-66011676	HIPEpiC	eye:	n/a
20	chr6:66010172-66010222	GM12891	blood:	n/a
21	chr6:66010172-66010222	HPAEpiC	pulmonary alveolar:	n/a
22	chr6:66010172-66010222	NB4	blood:	n/a
23	chr6:66011626-66011676	A549	lung:	n/a
24	chr6:66010172-66010222	H1-hESC	embryonic stem cell:	embryo
25	chr6:66011288-66011338	LNCaP	prostate:	n/a
26	chr6:66011626-66011676	SK-N-SH	brain:	n/a
27	chr6:66010172-66010222	BJ	skin:	n/a
28	chr6:66011288-66011338	GM06990	blood:	n/a
29	chr6:66011626-66011676	LNCaP	prostate:	n/a
30	chr6:66013901-66013951	AG09309	skin:	n/a
31	chr6:66011288-66011338	NH-A	brain:	n/a
32	chr6:66011288-66011338	SK-N-MC	brain:	n/a
33	chr6:66013901-66013951	HIPEpiC	eye:	n/a
34	chr6:66013901-66013951	GM12891	blood:	n/a
35	chr6:66010172-66010222	HL-60	blood:	n/a
36	chr6:66010172-66010222	LNCaP	prostate:	n/a
37	chr6:66011626-66011676	GM12878	blood:	n/a
38	chr6:66013901-66013951	GM12878	blood:	n/a
39	chr6:66013901-66013951	HAEpiC	amniotic membrane:	n/a
40	chr6:66011288-66011338	SK-N-SH_RA	brain:	n/a
41	chr6:66011288-66011338	AG04449	skin:	fetal
42	chr6:66010172-66010222	SK-N-SH	brain:	n/a
43	chr6:66011626-66011676	Hela-S3	cervix:	n/a
44	chr6:66013901-66013951	T-47D	breast:	n/a
45	chr6:66011626-66011676	AoSMC	blood vessel:	n/a
46	chr6:66013901-66013951	NB4	blood:	n/a
47	chr6:66010172-66010222	MCF-7	breast:	n/a
48	chr6:66011288-66011338	HEEpiC	esophagus:	n/a
49	chr6:66010172-66010222	HRPEpiC	eye:	n/a
50	chr6:66010172-66010222	PFSK-1	brain:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:66078369..66080351-chr6:66082016..66084974,2	K562	blood:
2	chr6:66060579..66062154-chr6:66063684..66065572,2	MCF-7	breast:
3	chr6:66078369..66080351-chr6:66082016..66084974,2	K562	blood:
4	chr6:66051771..66054306-chr6:66063446..66065850,2	K562	blood:
5	chr6:66051771..66054306-chr6:66063446..66065850,2	K562	blood:
6	chr6:66060579..66062154-chr6:66063684..66065572,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGSN-6	chr6:66005650-66006012	NONHSAT113369
2	lnc-LGSN-6	chr6:66012701-66012904	NONHSAT113369
3	lnc-LGSN-6	chr6:66005718-66006012	NONHSAT113370
4	lnc-LGSN-6	chr6:66012701-66012830	NONHSAT113370
5	lnc-LGSN-6	chr6:66010740-66010831	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
ENSG00000214558	TF binding region
EYS	TF binding region
ENSG00000214558	CpG island
EYS	CpG island

Extended variants
information (count: 470 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:470 , 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	rs559261010	chr6:65961615-65961616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147183937	chr6:65961618-65961619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548097565	chr6:65961625-65961626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567976372	chr6:65961657-65961658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537052816	chr6:65961694-65961695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550559188	chr6:65961695-65961696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570962898	chr6:65961713-65961714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140543839	chr6:65961740-65961741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74971899	chr6:65961754-65961755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34447006	chr6:65961763-65961764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553556160	chr6:65961768-65961769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551429773	chr6:65961794-65961795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs636434	chr6:65961810-65961811	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs536023081	chr6:65961826-65961827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186717472	chr6:65961888-65961889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142740546	chr6:65961938-65961939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147391243	chr6:65961941-65961942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543484932	chr6:65961949-65961950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191576137	chr6:65961994-65961995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576900445	chr6:65961996-65961997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143863403	chr6:65969033-65969034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574365337	chr6:65969048-65969049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543365448	chr6:65969062-65969063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190600831	chr6:65969087-65969088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35799825	chr6:65969103-65969104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181687146	chr6:65969111-65969112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576864238	chr6:65969117-65969118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542249813	chr6:65969183-65969184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148618496	chr6:65969193-65969194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569159400	chr6:65969228-65969229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536372	chr6:65969239-65969240	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs371043867	chr6:65969261-65969262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528245602	chr6:65969297-65969298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551596885	chr6:65969307-65969308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369958243	chr6:65969329-65969330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572771528	chr6:65969337-65969338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187130613	chr6:65969345-65969346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115918586	chr6:65969376-65969377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530811855	chr6:65969449-65969450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74797972	chr6:65969460-65969461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370238828	chr6:65969465-65969466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373463683	chr6:65969523-65969524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148636102	chr6:65969533-65969534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368529833	chr6:65969603-65969604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115445599	chr6:65969621-65969622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs697304	chr6:65969644-65969645	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs73443111	chr6:65969661-65969662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534329553	chr6:65969668-65969669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12212937	chr6:65969675-65969676	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs77317736	chr6:65969728-65969729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65961600-65962000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr6:65969000-65969800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr6:65969200-65969400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:65969200-65970600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:65969400-65970400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr6:65969400-65970800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:65969600-65969800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr6:65969600-65970400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:65969600-65971000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:65969800-65970000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr6:65970000-65970400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:65970000-65970400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:65970800-65971800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:65999000-66000200	Enhancers	HUVEC	blood vessel
15	chr6:66007600-66009400	Enhancers	HUVEC	blood vessel
16	chr6:66028600-66028800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:66045000-66045800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr6:66061400-66062200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:66061600-66061800	Enhancers	Fetal Lung	lung
20	chr6:66076000-66077200	Enhancers	Fetal Stomach	stomach

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