Variant report

Variant	esv1824806
Chromosome Location	chr6:32319364-32325138
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:184)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:32321136-32321610	Hela-S3	cervix:	n/a	n/a
2	EP300	chr6:32321139-32321500	Hela-S3	cervix:	n/a	n/a
3	FOS	chr6:32321122-32321561	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr6:32321184-32321501	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr6:32321132-32321502	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr6:32321115-32321505	MCF10A-Er-Src	breast:	n/a	n/a
7	GATA2	chr6:32323035-32323624	HUVEC	blood vessel:	n/a	n/a
8	MYC	chr6:32321278-32321564	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr6:32324354-32324363	MCF-7	breast:	n/a	n/a
10	POLR2A	chr6:32324969-32325114	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr6:32324366-32324388	MCF-7	breast:	n/a	n/a
12	PRDM1	chr6:32323220-32323427	Hela-S3	cervix:	n/a	n/a
13	STAT3	chr6:32321347-32321420	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr6:32321165-32321481	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr6:32321069-32321546	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr6:32321140-32321480	Hela-S3	cervix:	n/a	n/a
17	STAT3	chr6:32321157-32321514	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr6:32319840-32319996	MCF10A-Er-Src	breast:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:32320715-32320765	RPTEC	kidney:	n/a
2	chr6:32320715-32320765	RPTEC	kidney:	n/a
3	chr6:32320708-32320758	Caco-2	colon:	n/a
4	chr6:32324878-32324928	Hepatocyte	liver:	n/a
5	chr6:32324878-32324928	SK-N-MC	brain:	n/a
6	chr6:32324878-32324928	ovcar-3	ovarian:	n/a
7	chr6:32324878-32324928	Jurkat	blood:	n/a
8	chr6:32320708-32320758	GM12892	blood:	n/a
9	chr6:32320715-32320765	GM12891	blood:	n/a
10	chr6:32324878-32324928	HRCEpiC	kidney:	n/a
11	chr6:32320708-32320758	PFSK-1	brain:	n/a
12	chr6:32320715-32320765	SK-N-MC	brain:	n/a
13	chr6:32320715-32320765	LNCaP	prostate:	n/a
14	chr6:32320715-32320765	PFSK-1	brain:	n/a
15	chr6:32320715-32320765	HepG2	liver:	n/a
16	chr6:32324878-32324928	T-47D	breast:	n/a
17	chr6:32320715-32320765	SK-N-SH_RA	brain:	n/a
18	chr6:32320708-32320758	PrEC	prostate:	n/a
19	chr6:32320708-32320758	A549	lung:	n/a
20	chr6:32320715-32320765	NB4	blood:	n/a
21	chr6:32324878-32324928	HEK293	kidney:	embryo
22	chr6:32324878-32324928	HUVEC	blood vessel:	n/a
23	chr6:32324878-32324928	BJ	skin:	n/a
24	chr6:32324878-32324928	SAEC	small airway:	n/a
25	chr6:32320708-32320758	MCF10A-Er-Src	breast:	n/a
26	chr6:32324878-32324928	HPAEpiC	pulmonary alveolar:	n/a
27	chr6:32320708-32320758	SK-N-SH_RA	brain:	n/a
28	chr6:32324878-32324928	GM12892	blood:	n/a
29	chr6:32320715-32320765	GM06990	blood:	n/a
30	chr6:32320708-32320758	Hela-S3	cervix:	n/a
31	chr6:32320715-32320765	H1-hESC	embryonic stem cell:	embryo
32	chr6:32320708-32320758	GM06990	blood:	n/a
33	chr6:32320708-32320758	NHBE	bronchial:	n/a
34	chr6:32320708-32320758	NHDF-neo	bronchial:	n/a
35	chr6:32320708-32320758	GM12891	blood:	n/a
36	chr6:32320708-32320758	HL-60	blood:	n/a
37	chr6:32320715-32320765	MCF-7	breast:	n/a
38	chr6:32320715-32320765	ECC-1	luminal epithelium:	n/a
39	chr6:32320708-32320758	AG10803	skin:	n/a
40	chr6:32324878-32324928	AG04450	lung:	fetal
41	chr6:32320715-32320765	A549	lung:	n/a
42	chr6:32320708-32320758	PANC-1	pancreas:	n/a
43	chr6:32320715-32320765	BJ	skin:	n/a
44	chr6:32320708-32320758	HUVEC	blood vessel:	n/a
45	chr6:32324878-32324928	LNCaP	prostate:	n/a
46	chr6:32324878-32324928	BE2_C	brain:	n/a
47	chr6:32320715-32320765	SAEC	small airway:	n/a
48	chr6:32320715-32320765	HCT-116	colon:	n/a
49	chr6:32320715-32320765	NHBE	bronchial:	n/a
50	chr6:32320715-32320765	AG09309	skin:	n/a

No data

Variant related genes	Relation type
RNU6-603P	TF binding region
RNU6-603P	CpG island

Extended variants
information (count: 153 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3117118	chr6:32319387-32319388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147712241	chr6:32319412-32319413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371150666	chr6:32319496-32319497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575778818	chr6:32319502-32319503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9268301	chr6:32319637-32319638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
6	rs561138267	chr6:32319640-32319641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184007518	chr6:32319674-32319675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs59880608	chr6:32319798-32319799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs554550910	chr6:32319840-32319841	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs572754489	chr6:32319908-32319909	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs536881854	chr6:32320112-32320113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3132963	chr6:32320153-32320154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs145686540	chr6:32320221-32320222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186022348	chr6:32320278-32320279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190837971	chr6:32320283-32320284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183156403	chr6:32320370-32320371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187179932	chr6:32320394-32320395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191988280	chr6:32320417-32320418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369223770	chr6:32320546-32320547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182991405	chr6:32320554-32320555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560054176	chr6:32320622-32320623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141669711	chr6:32320709-32320710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187666528	chr6:32320715-32320716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147053349	chr6:32320716-32320717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534284355	chr6:32320721-32320722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138501651	chr6:32320734-32320735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115271585	chr6:32320787-32320788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200497212	chr6:32320803-32320804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73396970	chr6:32320814-32320815	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs544732510	chr6:32320959-32320960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2022544	chr6:32321004-32321005	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs185626728	chr6:32321037-32321038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573844682	chr6:32321122-32321123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114928941	chr6:32321169-32321170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9501614	chr6:32321201-32321202	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs189350851	chr6:32321231-32321232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114729388	chr6:32321262-32321263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs3117117	chr6:32321272-32321273	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs114102860	chr6:32321302-32321303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553370672	chr6:32321371-32321372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527573865	chr6:32321392-32321393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201946611	chr6:32321413-32321414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200715101	chr6:32321421-32321422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs3038511	chr6:32321425-32321426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192341285	chr6:32321458-32321459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368529276	chr6:32321473-32321474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142516848	chr6:32321511-32321512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184721580	chr6:32321519-32321520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543229349	chr6:32321548-32321549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2395148	chr6:32321554-32321555	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease

Variant related diseases (count:124)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22844521	CNVD
Gestational infection	22844521	CNVD
HIV/AIDS	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	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
Ovarian cancer	21781307	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	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
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32317800-32320800	Weak transcription	Hela-S3	cervix
2	chr6:32320800-32321800	Enhancers	Hela-S3	cervix
3	chr6:32320800-32322000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:32321800-32323000	Weak transcription	Hela-S3	cervix
5	chr6:32322000-32323200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:32322800-32323600	Enhancers	HUVEC	blood vessel
7	chr6:32323000-32323400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:32323000-32324200	Enhancers	Hela-S3	cervix
9	chr6:32323200-32324000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:32324200-32324600	Weak transcription	Hela-S3	cervix
11	chr6:32324600-32325600	Enhancers	Hela-S3	cervix

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