Variant report

Variant	esv1817841
Chromosome Location	chr6:27984907-28007435
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:27988649-27988805	MCF-7	breast:	n/a	n/a
2	CEBPB	chr6:27995550-27995778	HepG2	liver:	n/a	n/a
3	CTCF	chr6:27987815-27987860	GM13976	blood:	n/a	n/a
4	CTCF	chr6:27988685-27988736	MCF-7	breast:	n/a	n/a
5	EP300	chr6:27985361-27985539	K562	blood:	n/a	chr6:27985500-27985514
6	FOS	chr6:27998612-27998977	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr6:27998535-27998856	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr6:27998593-27999046	MCF10A-Er-Src	breast:	n/a	chr6:27999013-27999022
9	FOS	chr6:27998612-27998994	MCF10A-Er-Src	breast:	n/a	n/a
10	FOXA1	chr6:27988868-27989167	HepG2	liver:	n/a	n/a
11	FOXA1	chr6:27988869-27989120	HepG2	liver:	n/a	n/a
12	FOXA2	chr6:27988843-27989109	A549	lung:	n/a	n/a
13	FOXA2	chr6:27988062-27988241	HepG2	liver:	n/a	n/a
14	FOXA2	chr6:27988648-27989354	A549	lung:	n/a	n/a
15	FOXA2	chr6:27988869-27989124	HepG2	liver:	n/a	n/a
16	GATA2	chr6:27986019-27986332	SH-SY5Y	brain:	n/a	chr6:27986158-27986165 chr6:27986150-27986166 chr6:27986152-27986164 chr6:27986154-27986161 chr6:27986154-27986161 chr6:27986154-27986161 chr6:27986153-27986163 chr6:27986150-27986161
17	GATA3	chr6:27988163-27988621	MCF-7	breast:	n/a	n/a
18	JUND	chr6:27998679-27998802	HepG2	liver:	n/a	chr6:27998699-27998710
19	JUND	chr6:28002969-28003171	HepG2	liver:	n/a	chr6:28003112-28003121
20	MAFK	chr6:27999546-27999751	HepG2	liver:	n/a	chr6:27999629-27999649
21	MXI1	chr6:27999208-27999242	H1-hESC	embryonic stem cell:	n/a	n/a
22	MYC	chr6:27988666-27988735	MCF-7	breast:	n/a	n/a
23	NFYA	chr6:27985069-27985188	GM12878	blood:	n/a	n/a
24	NR2F2	chr6:27988289-27988585	MCF-7	breast:	n/a	n/a
25	POLR2A	chr6:28002637-28002805	K562	blood:	n/a	n/a
26	POLR2A	chr6:27989045-27989082	MCF-7	breast:	n/a	n/a
27	POLR2A	chr6:27988829-27989066	ProgFib	skin:	n/a	n/a
28	POLR2A	chr6:28000166-28002054	K562	blood:	n/a	n/a
29	POLR2A	chr6:28004334-28004414	MCF-7	breast:	n/a	n/a
30	POLR2A	chr6:27990178-27990317	K562	blood:	n/a	n/a
31	POLR2A	chr6:28003293-28003614	K562	blood:	n/a	n/a
32	POLR2A	chr6:27988627-27988712	MCF-7	breast:	n/a	n/a
33	POLR2A	chr6:27986375-27986471	K562	blood:	n/a	n/a
34	POLR2A	chr6:27983777-27985373	K562	blood:	n/a	n/a
35	POLR2A	chr6:27988891-27988910	MCF-7	breast:	n/a	n/a
36	POLR2A	chr6:28006490-28007085	K562	blood:	n/a	n/a
37	POLR2A	chr6:27987297-27987807	K562	blood:	n/a	n/a
38	POLR2A	chr6:28006115-28006116	K562	blood:	n/a	n/a
39	POLR2A	chr6:27989359-27989481	K562	blood:	n/a	n/a
40	POLR2A	chr6:28000868-28001125	H1-neurons	neurons:	n/a	n/a
41	STAT3	chr6:28006392-28006550	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:27988718-27988768	NHBE	bronchial:	n/a
2	chr6:27988718-27988768	HRCEpiC	kidney:	n/a
3	chr6:27988718-27988768	AG09319	gingival:	n/a
4	chr6:27988718-27988768	A549	lung:	n/a
5	chr6:27988718-27988768	K562	blood:	n/a
6	chr6:27988718-27988768	SK-N-SH	brain:	n/a
7	chr6:27988718-27988768	HEK293	kidney:	embryo
8	chr6:27988718-27988768	NB4	blood:	n/a
9	chr6:27988718-27988768	SK-N-MC	brain:	n/a
10	chr6:27988718-27988768	Caco-2	colon:	n/a
11	chr6:27988718-27988768	HNPCEpiC	eye:	n/a
12	chr6:27988718-27988768	NH-A	brain:	n/a
13	chr6:27988718-27988768	Jurkat	blood:	n/a
14	chr6:27988718-27988768	AG09309	skin:	n/a
15	chr6:27988718-27988768	IMR90	lung:	fetal
16	chr6:27988718-27988768	Hela-S3	cervix:	n/a
17	chr6:27988718-27988768	PFSK-1	brain:	n/a
18	chr6:27988718-27988768	SKMC	muscle:	n/a
19	chr6:27988718-27988768	HEEpiC	esophagus:	n/a
20	chr6:27988718-27988768	HCM	heart:	n/a
21	chr6:27988718-27988768	SAEC	small airway:	n/a
22	chr6:27988718-27988768	ProgFib	skin:	n/a
23	chr6:27988718-27988768	HPAEpiC	pulmonary alveolar:	n/a
24	chr6:27988718-27988768	CMK	blood:	n/a
25	chr6:27988718-27988768	AG10803	skin:	n/a
26	chr6:27988718-27988768	ECC-1	luminal epithelium:	n/a
27	chr6:27988718-27988768	GM12878	blood:	n/a
28	chr6:27988718-27988768	HCF	heart:	n/a
29	chr6:27988718-27988768	HRPEpiC	eye:	n/a
30	chr6:27988718-27988768	HepG2	liver:	n/a
31	chr6:27988718-27988768	HCT-116	colon:	n/a
32	chr6:27988718-27988768	GM06990	blood:	n/a
33	chr6:27988718-27988768	T-47D	breast:	n/a
34	chr6:27988718-27988768	SK-N-SH_RA	brain:	n/a
35	chr6:27988718-27988768	AoSMC	blood vessel:	n/a
36	chr6:27988718-27988768	HRE	kidney:	n/a
37	chr6:27988718-27988768	H1-hESC	embryonic stem cell:	embryo
38	chr6:27988718-27988768	GM12891	blood:	n/a
39	chr6:27988718-27988768	NT2-D1	testis:	n/a
40	chr6:27988718-27988768	BJ	skin:	n/a
41	chr6:27988718-27988768	PrEC	prostate:	n/a
42	chr6:27988718-27988768	HAEpiC	amniotic membrane:	n/a
43	chr6:27988718-27988768	GM19239	blood:	n/a
44	chr6:27988718-27988768	RPTEC	kidney:	n/a
45	chr6:27988718-27988768	HIPEpiC	eye:	n/a
46	chr6:27988718-27988768	HMEC	breast:	n/a
47	chr6:27988718-27988768	LNCaP	prostate:	n/a
48	chr6:27988718-27988768	BE2_C	brain:	n/a
49	chr6:27988718-27988768	HCPEpiC	choroid plexus:	n/a
50	chr6:27988718-27988768	MCF-7	breast:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28004519..28007774-chr6:28009594..28013138,4	K562	blood:
2	chr6:27870372..27872373-chr6:27997352..27999344,2	K562	blood:
3	chr6:27862119..27863751-chr6:27985739..27988180,2	K562	blood:
4	chr6:27982740..27985461-chr6:27987280..27989887,2	K562	blood:
5	chr6:27985193..27988547-chr6:27998544..28000332,3	K562	blood:
6	chr6:27860192..27862339-chr6:28006448..28008221,2	K562	blood:
7	chr6:28004584..28007238-chr6:28010224..28013138,2	K562	blood:
8	chr6:28001746..28003374-chr6:28020491..28023392,2	K562	blood:
9	chr6:27979427..27983330-chr6:27984684..27988403,5	K562	blood:
10	chr6:27985193..27988547-chr6:27998544..28000332,3	K562	blood:
11	chr6:27958100..27959630-chr6:27985165..27988102,2	K562	blood:
12	chr6:27999731..28002112-chr6:28002900..28005116,2	MCF-7	breast:
13	chr6:27780572..27782800-chr6:28000600..28002491,2	K562	blood:
14	chr6:27981949..27984584-chr6:27987627..27989149,2	MCF-7	breast:

No data

Variant related genes	Relation type
OR2W2P	TF binding region
OR2W2P	CpG island
ENSG00000217315	chromatin interactions
ENSG00000182611	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000196331	chromatin interactions
ENSG00000182477	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000199851	chromatin interactions

Extended variants
information (count: 312 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:312 , 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	rs537741865	chr6:27987294-27987295	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs377029664	chr6:27987338-27987339	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs558545743	chr6:27987394-27987395	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs559021498	chr6:27987413-27987414	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs576797279	chr6:27987415-27987416	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544918646	chr6:27987416-27987417	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs190895974	chr6:27987503-27987504	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183466397	chr6:27987504-27987505	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs554897700	chr6:27987542-27987543	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs186579311	chr6:27987557-27987558	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs76456386	chr6:27987558-27987559	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs9357056	chr6:27987650-27987651	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs192053453	chr6:27987663-27987664	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs144962583	chr6:27987674-27987675	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562683112	chr6:27987703-27987704	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs149976	chr6:27987776-27987777	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs182989035	chr6:27987803-27987804	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs188384264	chr6:27987806-27987807	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs536714647	chr6:27987857-27987858	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs547142534	chr6:27987904-27987905	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs67615310	chr6:27987960-27987961	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373858303	chr6:27987964-27987965	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs148634273	chr6:27987989-27987990	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs369297836	chr6:27988015-27988016	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs191226886	chr6:27988029-27988030	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs541132917	chr6:27988057-27988058	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs559450626	chr6:27988086-27988087	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs575801733	chr6:27988095-27988096	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs142082519	chr6:27988139-27988140	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs530363947	chr6:27988156-27988157	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs141723180	chr6:27988172-27988173	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs372953771	chr6:27988215-27988216	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs182103055	chr6:27988220-27988221	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs151142080	chr6:27988365-27988366	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs76137342	chr6:27988450-27988451	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs140043850	chr6:27988478-27988479	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs35658042	chr6:27988506-27988507	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs145167216	chr6:27988507-27988508	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs34038617	chr6:27988535-27988536	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs552069994	chr6:27988553-27988554	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs545630814	chr6:27988589-27988590	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs562708785	chr6:27988595-27988596	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531470559	chr6:27988596-27988597	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs565106458	chr6:27988602-27988603	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs548523984	chr6:27988605-27988606	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs186739325	chr6:27988639-27988640	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs532567514	chr6:27988646-27988647	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs369759849	chr6:27988656-27988657	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs373532126	chr6:27988673-27988674	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs530150975	chr6:27988693-27988694	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
Hodgkin''s lymphoma	17606441	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
Bipolar disorder	19114987	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28001600-28001800	Bivalent Enhancer	K562	blood

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