Variant report

Variant	esv3357770
Chromosome Location	chr6:87787981-87788985
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr6:87788747-87789058	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr6:87788840-87788990	BJ	skin:	n/a	chr6:87788918-87788931
3	CTCF	chr6:87788860-87789010	HepG2	liver:	n/a	chr6:87788918-87788931
4	CTCF	chr6:87788820-87788970	GM12865	blood:	n/a	chr6:87788918-87788931
5	CTCF	chr6:87788840-87788990	AG09309	skin:	n/a	chr6:87788918-87788931
6	CTCF	chr6:87788763-87789087	GM12891	blood:	n/a	chr6:87788918-87788931
7	CTCF	chr6:87788769-87789077	ProgFib	skin:	n/a	chr6:87788918-87788931
8	CTCF	chr6:87788766-87789065	GM12892	blood:	n/a	chr6:87788918-87788931
9	CTCF	chr6:87788840-87788990	A549	lung:	n/a	chr6:87788918-87788931
10	CTCF	chr6:87788860-87789010	NHEK	skin:	n/a	chr6:87788918-87788931
11	CTCF	chr6:87788860-87789010	GM12873	blood:	n/a	chr6:87788918-87788931
12	CTCF	chr6:87788820-87788970	NHEK	skin:	n/a	chr6:87788918-87788931
13	CTCF	chr6:87788797-87789060	HUVEC	blood vessel:	n/a	chr6:87788918-87788931
14	CTCF	chr6:87788840-87788990	HPAF	blood vessel:	n/a	chr6:87788918-87788931
15	CTCF	chr6:87788813-87789019	SK-N-SH_RA	brain:	n/a	chr6:87788918-87788931
16	CTCF	chr6:87788764-87789074	MCF-7	breast:	n/a	chr6:87788918-87788931
17	CTCF	chr6:87788800-87788950	Caco-2	colon:	n/a	chr6:87788918-87788931
18	CTCF	chr6:87788732-87789145	MCF-7	breast:	n/a	chr6:87788918-87788931
19	CTCF	chr6:87788730-87789013	A549	lung:	n/a	chr6:87788918-87788931
20	CTCF	chr6:87788735-87789124	IMR90	lung:	n/a	chr6:87788918-87788931
21	CTCF	chr6:87788792-87789146	H1-hESC	embryonic stem cell:	n/a	chr6:87788918-87788931
22	CTCF	chr6:87788860-87789010	GM12878	blood:	n/a	chr6:87788918-87788931
23	CTCF	chr6:87788820-87788970	HVMF	connective:	n/a	chr6:87788918-87788931
24	CTCF	chr6:87788840-87788990	GM12870	blood:	n/a	chr6:87788918-87788931
25	CTCF	chr6:87788840-87788990	HMF	breast:	n/a	chr6:87788918-87788931
26	CTCF	chr6:87788720-87789135	K562	blood:	n/a	chr6:87788918-87788931
27	CTCF	chr6:87788880-87789030	NHLF	lung:	n/a	chr6:87788918-87788931
28	CTCF	chr6:87788840-87788990	MCF-7	breast:	n/a	chr6:87788918-87788931
29	CTCF	chr6:87788820-87788970	AG04449	skin:	n/a	chr6:87788918-87788931
30	CTCF	chr6:87788860-87789010	GM12867	blood:	n/a	chr6:87788918-87788931
31	CTCF	chr6:87788860-87789010	Caco-2	colon:	n/a	chr6:87788918-87788931
32	CTCF	chr6:87788860-87789010	HMEC	breast:	n/a	chr6:87788918-87788931
33	CTCF	chr6:87788820-87788970	HCT-116	colon:	n/a	chr6:87788918-87788931
34	CTCF	chr6:87788799-87789046	GM10266	blood:	n/a	chr6:87788918-87788931
35	CTCF	chr6:87788840-87788990	K562	blood:	n/a	chr6:87788918-87788931
36	CTCF	chr6:87788776-87789073	K562	blood:	n/a	chr6:87788918-87788931
37	CTCF	chr6:87788840-87788990	Hela-S3	cervix:	n/a	chr6:87788918-87788931
38	CTCF	chr6:87788764-87789063	GM19239	blood:	n/a	chr6:87788918-87788931
39	CTCF	chr6:87788840-87788990	NB4	blood:	n/a	chr6:87788918-87788931
40	CTCF	chr6:87788840-87788990	AG04450	lung:	n/a	chr6:87788918-87788931
41	CTCF	chr6:87788732-87789095	K562	blood:	n/a	chr6:87788918-87788931
42	CTCF	chr6:87788840-87788990	HA-sp	spinal cord:	n/a	chr6:87788918-87788931
43	CTCF	chr6:87788820-87788970	HRE	kidney:	n/a	chr6:87788918-87788931
44	CTCF	chr6:87788800-87788950	NHDF-neo	bronchial:	n/a	chr6:87788918-87788931
45	CTCF	chr6:87788820-87788970	AG10803	skin:	n/a	chr6:87788918-87788931
46	CTCF	chr6:87788775-87789080	GM19240	blood:	n/a	chr6:87788918-87788931
47	CTCF	chr6:87788820-87788970	A549	lung:	n/a	chr6:87788918-87788931
48	CTCF	chr6:87788795-87789033	LNCaP	prostate:	n/a	chr6:87788918-87788931
49	CTCF	chr6:87788840-87788990	AoAF	blood vessel:	n/a	chr6:87788918-87788931
50	CTCF	chr6:87788860-87789010	GM12866	blood:	n/a	chr6:87788918-87788931

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:87786543..87788379-chr6:87789393..87791059,2	MCF-7	breast:

Variant related genes	Relation type
RN7SKP209	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185833635	chr6:87788012-87788013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536677575	chr6:87788015-87788016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190159140	chr6:87788022-87788023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182642645	chr6:87788028-87788029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34226900	chr6:87788034-87788035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561442152	chr6:87788075-87788076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75017710	chr6:87788110-87788111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552912153	chr6:87788179-87788180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6914562	chr6:87788257-87788258	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs558675902	chr6:87788290-87788291	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs190682328	chr6:87788296-87788297	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs541325925	chr6:87788340-87788341	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs541762756	chr6:87788421-87788422	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs183389144	chr6:87788459-87788460	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs561987151	chr6:87788475-87788476	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs9342103	chr6:87788479-87788480	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs563366119	chr6:87788494-87788495	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs139801328	chr6:87788531-87788532	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs189088624	chr6:87788547-87788548	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs545917718	chr6:87788611-87788612	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs564100024	chr6:87788626-87788627	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs528306316	chr6:87788823-87788824	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs6940174	chr6:87788839-87788840	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs541420525	chr6:87788851-87788852	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs568387935	chr6:87788862-87788863	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs530028357	chr6:87788875-87788876	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs117395478	chr6:87788909-87788910	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs72914462	chr6:87788980-87788981	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:87785200-87789000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:87788600-87789200	Enhancers	Brain Substantia Nigra	brain
3	chr6:87788800-87789000	Enhancers	GM12878-XiMat	blood
4	chr6:87788800-87789400	Enhancers	Primary neutrophils fromperipheralblood	blood

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