Variant report

Variant	esv1823942
Chromosome Location	chr6:27282284-27295506
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:244)
Chromatin interactive
region (count:21)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr6:27285617-27285993	K562	blood:	n/a	n/a
2	BHLHE40	chr6:27286829-27287040	K562	blood:	n/a	n/a
3	CBX3	chr6:27281745-27282292	K562	blood:	n/a	n/a
4	CEBPB	chr6:27289786-27289902	HepG2	liver:	n/a	n/a
5	CEBPB	chr6:27287364-27287556	K562	blood:	n/a	n/a
6	CEBPB	chr6:27294928-27295128	K562	blood:	n/a	n/a
7	CTCF	chr6:27295240-27295390	HepG2	liver:	n/a	n/a
8	EP300	chr6:27293106-27293174	Hela-S3	cervix:	n/a	n/a
9	FOS	chr6:27289676-27290063	MCF10A-Er-Src	breast:	n/a	chr6:27289679-27289691
10	FOS	chr6:27289699-27290127	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr6:27289725-27290063	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr6:27289670-27290082	MCF10A-Er-Src	breast:	n/a	chr6:27289679-27289691
13	FOXA1	chr6:27293015-27293331	T-47D	breast:	n/a	chr6:27293181-27293196
14	GTF2B	chr6:27286739-27287042	K562	blood:	n/a	n/a
15	GTF2B	chr6:27294919-27295119	K562	blood:	n/a	n/a
16	GTF2F1	chr6:27285701-27285743	K562	blood:	n/a	n/a
17	GTF2F1	chr6:27286939-27286948	H1-hESC	embryonic stem cell:	n/a	n/a
18	HEY1	chr6:27286713-27287207	K562	blood:	n/a	n/a
19	HEY1	chr6:27286775-27287115	K562	blood:	n/a	n/a
20	HEY1	chr6:27294786-27295131	K562	blood:	n/a	n/a
21	JUN	chr6:27281439-27282572	K562	blood:	n/a	n/a
22	JUN	chr6:27285393-27285543	K562	blood:	n/a	n/a
23	KAP1	chr6:27281571-27282465	K562	blood:	n/a	n/a
24	MAFF	chr6:27286805-27287029	K562	blood:	n/a	n/a
25	MAFF	chr6:27291952-27292097	HepG2	liver:	n/a	chr6:27291998-27292012
26	MAFK	chr6:27291863-27292133	HepG2	liver:	n/a	chr6:27291995-27292015 chr6:27291997-27292013 chr6:27291998-27292012
27	MAFK	chr6:27291943-27292117	HepG2	liver:	n/a	chr6:27291995-27292015 chr6:27291997-27292013 chr6:27291998-27292012
28	MAFK	chr6:27286831-27287006	K562	blood:	n/a	n/a
29	MAX	chr6:27285564-27285844	K562	blood:	n/a	n/a
30	MAZ	chr6:27285793-27285851	K562	blood:	n/a	n/a
31	MYC	chr6:27289731-27289981	MCF10A-Er-Src	breast:	n/a	n/a
32	MYC	chr6:27294834-27295229	NB4	blood:	n/a	n/a
33	MYC	chr6:27295283-27295337	H1-hESC	embryonic stem cell:	n/a	n/a
34	MYC	chr6:27289740-27289974	MCF10A-Er-Src	breast:	n/a	n/a
35	PML	chr6:27286741-27287183	K562	blood:	n/a	n/a
36	POLR2A	chr6:27286816-27286827	K562	blood:	n/a	n/a
37	POLR2A	chr6:27286712-27287246	K562	blood:	n/a	n/a
38	POLR2A	chr6:27294688-27295381	NB4	blood:	n/a	n/a
39	POLR2A	chr6:27286805-27287092	K562	blood:	n/a	n/a
40	POLR2A	chr6:27293361-27293467	ProgFib	skin:	n/a	n/a
41	POLR2A	chr6:27286850-27286979	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr6:27286839-27287154	K562	blood:	n/a	n/a
43	POLR2A	chr6:27286762-27287263	K562	blood:	n/a	n/a
44	POLR2A	chr6:27294595-27295144	K562	blood:	n/a	n/a
45	RCOR1	chr6:27286775-27287066	K562	blood:	n/a	n/a
46	SETDB1	chr6:27281270-27282410	K562	blood:	n/a	n/a
47	STAT3	chr6:27283612-27283855	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr6:27289683-27290119	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr6:27289722-27290070	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr6:27289685-27290014	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	chr6:27292492-27292542	GM06990	blood:	n/a
2	chr6:27292492-27292542	T-47D	breast:	n/a
3	chr6:27291363-27291413	HL-60	blood:	n/a
4	chr6:27292364-27292414	HRCEpiC	kidney:	n/a
5	chr6:27291363-27291413	HRPEpiC	eye:	n/a
6	chr6:27292492-27292542	HEK293	kidney:	embryo
7	chr6:27292364-27292414	T-47D	breast:	n/a
8	chr6:27291585-27291635	RPTEC	kidney:	n/a
9	chr6:27292364-27292414	HMEC	breast:	n/a
10	chr6:27292364-27292414	ECC-1	luminal epithelium:	n/a
11	chr6:27292364-27292414	AG10803	skin:	n/a
12	chr6:27292492-27292542	MCF10A-Er-Src	breast:	n/a
13	chr6:27292492-27292542	HCF	heart:	n/a
14	chr6:27292492-27292542	HUVEC	blood vessel:	n/a
15	chr6:27291585-27291635	HCT-116	colon:	n/a
16	chr6:27292364-27292414	GM12878	blood:	n/a
17	chr6:27291363-27291413	K562	blood:	n/a
18	chr6:27291363-27291413	HEEpiC	esophagus:	n/a
19	chr6:27292492-27292542	SK-N-MC	brain:	n/a
20	chr6:27292492-27292542	PrEC	prostate:	n/a
21	chr6:27292492-27292542	ProgFib	skin:	n/a
22	chr6:27291585-27291635	GM12891	blood:	n/a
23	chr6:27291363-27291413	HCT-116	colon:	n/a
24	chr6:27291585-27291635	HRCEpiC	kidney:	n/a
25	chr6:27291363-27291413	HAEpiC	amniotic membrane:	n/a
26	chr6:27291585-27291635	CMK	blood:	n/a
27	chr6:27292492-27292542	GM12892	blood:	n/a
28	chr6:27292492-27292542	ovcar-3	ovarian:	n/a
29	chr6:27291585-27291635	SAEC	small airway:	n/a
30	chr6:27292364-27292414	HL-60	blood:	n/a
31	chr6:27291585-27291635	LNCaP	prostate:	n/a
32	chr6:27291363-27291413	SK-N-MC	brain:	n/a
33	chr6:27292364-27292414	U87	brain:	n/a
34	chr6:27292492-27292542	K562	blood:	n/a
35	chr6:27291363-27291413	AG04449	skin:	fetal
36	chr6:27291585-27291635	HCPEpiC	choroid plexus:	n/a
37	chr6:27291363-27291413	HRE	kidney:	n/a
38	chr6:27291585-27291635	IMR90	lung:	fetal
39	chr6:27291363-27291413	GM19239	blood:	n/a
40	chr6:27292492-27292542	HRCEpiC	kidney:	n/a
41	chr6:27291585-27291635	HNPCEpiC	eye:	n/a
42	chr6:27291363-27291413	HCPEpiC	choroid plexus:	n/a
43	chr6:27292492-27292542	LNCaP	prostate:	n/a
44	chr6:27292492-27292542	A549	lung:	n/a
45	chr6:27291585-27291635	GM12878	blood:	n/a
46	chr6:27292364-27292414	NHBE	bronchial:	n/a
47	chr6:27291363-27291413	HIPEpiC	eye:	n/a
48	chr6:27292492-27292542	GM12878	blood:	n/a
49	chr6:27291363-27291413	BJ	skin:	n/a
50	chr6:27291585-27291635	AG10803	skin:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27273565..27277461-chr6:27284741..27287387,3	K562	blood:
2	chr6:27267639..27271310-chr6:27281448..27285145,3	K562	blood:
3	chr6:27280638..27284776-chr6:27284821..27286984,4	K562	blood:
4	chr6:27280335..27283011-chr6:27292973..27294490,2	K562	blood:
5	chr6:27283617..27285122-chr6:27291968..27294093,2	K562	blood:
6	chr6:27283444..27285555-chr6:27322877..27325059,2	K562	blood:
7	chr6:27271444..27273700-chr6:27295110..27297837,2	K562	blood:
8	chr6:27118908..27121103-chr6:27280745..27283160,2	K562	blood:
9	chr6:27293763..27296747-chr6:27440800..27443087,2	K562	blood:
10	chr6:27283136..27284776-chr6:27284821..27286348,2	K562	blood:
11	chr6:27274897..27277280-chr6:27287686..27289546,3	K562	blood:
12	chr6:27280993..27282944-chr6:27286928..27288455,2	K562	blood:
13	chr6:27280993..27282944-chr6:27286928..27288455,2	K562	blood:
14	chr6:27283533..27286469-chr6:27424537..27427357,2	K562	blood:
15	chr6:27275752..27278982-chr6:27286043..27289546,5	K562	blood:
16	chr6:27280638..27284776-chr6:27284821..27286984,4	K562	blood:
17	chr6:27289744..27293610-chr6:27293996..27296456,4	K562	blood:
18	chr6:27285675..27289188-chr6:27290325..27293992,4	K562	blood:
19	chr6:27291445..27294642-chr6:27355178..27358043,3	MCF-7	breast:
20	chr6:27283136..27284776-chr6:27284821..27286348,2	K562	blood:
21	chr6:27280335..27283011-chr6:27292973..27294490,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF391-2	chr6:27292540-27293741	NONHSAT108362

No data

Variant related genes	Relation type
POM121L2	TF binding region
VN1R10P	TF binding region
POM121L2	CpG island
VN1R10P	CpG island
ENSG00000220758	chromatin interactions
ENSG00000124613	chromatin interactions
ENSG00000096654	chromatin interactions

Extended variants
information (count: 392 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:392 , 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	rs9461348	chr6:27282284-27282285	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535799737	chr6:27282288-27282289	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs556009184	chr6:27282303-27282304	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs572594658	chr6:27282321-27282322	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs541611362	chr6:27282329-27282330	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs557974229	chr6:27282331-27282332	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs575113665	chr6:27282412-27282413	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs577675620	chr6:27282433-27282434	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs9461349	chr6:27282434-27282435	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564021861	chr6:27282455-27282456	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs563317557	chr6:27282463-27282464	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs529230029	chr6:27282490-27282491	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs190317419	chr6:27282503-27282504	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs562011492	chr6:27282578-27282579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527495926	chr6:27282580-27282581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575388834	chr6:27282593-27282594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547526813	chr6:27282615-27282616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570575261	chr6:27282705-27282706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533031616	chr6:27282801-27282802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549879891	chr6:27282831-27282832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143065366	chr6:27282838-27282839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535423100	chr6:27282863-27282864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147467200	chr6:27283020-27283021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2893910	chr6:27283254-27283255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs2893911	chr6:27283303-27283304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs565618424	chr6:27283308-27283309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532852001	chr6:27283326-27283327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73738749	chr6:27283415-27283416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs537178148	chr6:27283485-27283486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142731448	chr6:27283515-27283516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150593891	chr6:27283524-27283525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542959137	chr6:27283674-27283675	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs561842210	chr6:27283685-27283686	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs572267472	chr6:27283726-27283727	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs139609213	chr6:27283837-27283838	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs564300939	chr6:27283838-27283839	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs75383980	chr6:27283866-27283867	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs34343759	chr6:27283881-27283882	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549941409	chr6:27283940-27283941	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs550878494	chr6:27283958-27283959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs182918064	chr6:27284067-27284068	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs116453860	chr6:27284083-27284084	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs371243597	chr6:27284098-27284099	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs143381581	chr6:27284148-27284149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs566259161	chr6:27284167-27284168	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs146714304	chr6:27284177-27284178	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs34394775	chr6:27284260-27284261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs374518262	chr6:27284262-27284263	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs533266424	chr6:27284351-27284352	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs371723138	chr6:27284357-27284358	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27281000-27286600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:27285600-27286200	Enhancers	K562	blood
3	chr6:27285800-27286000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr6:27285800-27286000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:27285800-27286000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:27286200-27286800	Weak transcription	K562	blood
7	chr6:27286800-27287000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:27286800-27287000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:27286800-27287000	Enhancers	K562	blood
10	chr6:27294800-27295200	Enhancers	HepG2	liver
11	chr6:27295200-27299000	Weak transcription	HepG2	liver

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