Variant report

Variant	nsv981119
Chromosome Location	chr6:27076548-27084067
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:106)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:106 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:27082913-27083188	K562	blood:	n/a	n/a
2	ATF1	chr6:27082966-27083207	K562	blood:	n/a	n/a
3	ATF3	chr6:27082726-27083262	K562	blood:	n/a	n/a
4	BRCA1	chr6:27082842-27083172	Hela-S3	cervix:	n/a	n/a
5	CBX3	chr6:27082861-27083414	K562	blood:	n/a	n/a
6	CBX3	chr6:27079499-27079906	HCT-116	colon:	n/a	n/a
7	CEBPB	chr6:27079288-27079370	K562	blood:	n/a	n/a
8	CHD2	chr6:27082919-27083178	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr6:27083020-27083170	GM12875	blood:	n/a	n/a
10	CTCF	chr6:27082910-27083247	K562	blood:	n/a	n/a
11	CTCF	chr6:27082958-27083310	K562	blood:	n/a	n/a
12	CTCF	chr6:27083040-27083190	HEK293	kidney:	n/a	n/a
13	CTCF	chr6:27083020-27083170	K562	blood:	n/a	n/a
14	CTCF	chr6:27083000-27083150	GM12866	blood:	n/a	n/a
15	CTCF	chr6:27082980-27083130	HBMEC	blood vessel:	n/a	n/a
16	CTCF	chr6:27083039-27083253	GM12878	blood:	n/a	n/a
17	CTCF	chr6:27083140-27083290	RPTEC	kidney:	n/a	n/a
18	CTCF	chr6:27083102-27083190	ProgFib	skin:	n/a	n/a
19	CTCF	chr6:27083039-27083237	K562	blood:	n/a	n/a
20	CTCF	chr6:27083000-27083150	GM06990	blood:	n/a	n/a
21	CTCF	chr6:27083020-27083170	GM12864	blood:	n/a	n/a
22	CTCF	chr6:27083043-27083230	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr6:27082940-27083090	BE2_C	brain:	n/a	n/a
24	CTCF	chr6:27083072-27083223	Gliobla	brain:	n/a	n/a
25	CTCF	chr6:27083040-27083190	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr6:27082912-27083375	K562	blood:	n/a	n/a
27	CTCF	chr6:27083040-27083190	NHEK	skin:	n/a	n/a
28	CTCF	chr6:27083085-27083195	NHEK	skin:	n/a	n/a
29	CTCF	chr6:27083040-27083190	SAEC	small airway:	n/a	n/a
30	CTCF	chr6:27083126-27083149	GM10266	blood:	n/a	n/a
31	ELK1	chr6:27082727-27082820	Hela-S3	cervix:	n/a	n/a
32	EP300	chr6:27082957-27083204	K562	blood:	n/a	n/a
33	EP300	chr6:27076499-27076643	K562	blood:	n/a	n/a
34	FOS	chr6:27082924-27083125	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr6:27082978-27083167	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr6:27082901-27083197	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr6:27077522-27077625	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr6:27083023-27083164	MCF10A-Er-Src	breast:	n/a	n/a
39	FOSL1	chr6:27082715-27083234	K562	blood:	n/a	chr6:27082882-27082893
40	GTF2F1	chr6:27082903-27083151	Hela-S3	cervix:	n/a	n/a
41	HCFC1	chr6:27082996-27083155	K562	blood:	n/a	n/a
42	JUN	chr6:27082170-27083320	K562	blood:	n/a	chr6:27082882-27082893
43	JUN	chr6:27082591-27083285	K562	blood:	n/a	chr6:27082882-27082893
44	JUN	chr6:27082854-27083196	K562	blood:	n/a	chr6:27082882-27082893
45	JUN	chr6:27082893-27083263	K562	blood:	n/a	n/a
46	JUND	chr6:27082893-27083157	H1-hESC	embryonic stem cell:	n/a	n/a
47	JUND	chr6:27082784-27083312	K562	blood:	n/a	chr6:27082882-27082893
48	JUND	chr6:27082731-27083232	Hela-S3	cervix:	n/a	chr6:27082882-27082893
49	KAP1	chr6:27079587-27079910	K562	blood:	n/a	n/a
50	KAP1	chr6:27079518-27079973	HEK293	kidney:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26595526..26598364-chr6:27083090..27085616,3	K562	blood:
2	chr11:62608994..62609522-chr6:27077674..27078215,2	NB4	blood:
3	chr6:27057693..27062553-chr6:27083380..27087822,4	K562	blood:
4	chr6:27074336..27076812-chr6:27114825..27116364,2	MCF-7	breast:
5	chr6:27080939..27083950-chr6:27098167..27102321,5	MCF-7	breast:
6	chr19:7533661..7534181-chr6:27077219..27077730,2	HCT-116	colon:
7	chr6:26597089..26598650-chr6:27080250..27082955,2	K562	blood:
8	chr6:26987682..26989987-chr6:27081374..27083663,2	K562	blood:
9	chr6:26657992..26660947-chr6:27075942..27078254,2	K562	blood:
10	chr6:27058239..27061068-chr6:27078471..27081139,3	K562	blood:
11	chr6:27061770..27063954-chr6:27074898..27077222,2	K562	blood:

No data

Variant related genes	Relation type
RNU2-62P	TF binding region
ENSG00000133316	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000224843	chromatin interactions
ENSG00000124635	chromatin interactions
ENSG00000238621	chromatin interactions
ENSG00000181315	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000146109	chromatin interactions

Extended variants
information (count: 221 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546506139	chr6:27076549-27076550	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs79386908	chr6:27076668-27076669	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
3	rs149346029	chr6:27076685-27076686	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs190709387	chr6:27076691-27076692	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs184129049	chr6:27076700-27076701	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs368126232	chr6:27076755-27076756	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs577075246	chr6:27076807-27076808	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs188241644	chr6:27076831-27076832	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556343090	chr6:27076839-27076840	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs576047410	chr6:27076862-27076863	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370289316	chr6:27076921-27076922	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs193078769	chr6:27076929-27076930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369833679	chr6:27076941-27076942	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373718522	chr6:27076954-27076955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs144819046	chr6:27076998-27076999	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs59405634	chr6:27077007-27077008	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs73739561	chr6:27077045-27077046	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs564350164	chr6:27077116-27077117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs533302921	chr6:27077123-27077124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs78333583	chr6:27077185-27077186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs549958229	chr6:27077205-27077206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs563843645	chr6:27077212-27077213	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs148141796	chr6:27077223-27077224	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs528130402	chr6:27077228-27077229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs183560135	chr6:27077322-27077323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373336411	chr6:27077463-27077464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545915523	chr6:27077502-27077503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187170695	chr6:27077507-27077508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs76403421	chr6:27077510-27077511	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs150651061	chr6:27077547-27077548	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs75707904	chr6:27077768-27077769	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs191924912	chr6:27077778-27077779	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs539911692	chr6:27077793-27077794	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs183647823	chr6:27077828-27077829	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs535173419	chr6:27077832-27077833	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs561452662	chr6:27077885-27077886	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs73739563	chr6:27077889-27077890	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs188310593	chr6:27077948-27077949	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs541329222	chr6:27077954-27077955	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs193051520	chr6:27077998-27077999	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs117357929	chr6:27078001-27078002	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs139757171	chr6:27078064-27078065	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs12663615	chr6:27078076-27078077	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs143617372	chr6:27078108-27078109	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs368412910	chr6:27078136-27078137	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs529024840	chr6:27078156-27078157	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs549171487	chr6:27078182-27078183	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs376574424	chr6:27078188-27078189	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs73739565	chr6:27078189-27078190	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs146308865	chr6:27078201-27078202	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27070200-27082200	Weak transcription	K562	blood
2	chr6:27078400-27079600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:27080600-27081200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr6:27080800-27094400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:27081200-27094600	Weak transcription	Psoas Muscle	Psoas
6	chr6:27082200-27082800	Genic enhancers	K562	blood
7	chr6:27082400-27082600	Enhancers	Hela-S3	cervix
8	chr6:27082600-27083000	Flanking Active TSS	Hela-S3	cervix
9	chr6:27082800-27084800	Enhancers	K562	blood
10	chr6:27083000-27094400	Weak transcription	Hela-S3	cervix

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