Variant report

Variant	esv1817619
Chromosome Location	chr6:79521326-79540666
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	CEBPB	chr6:79528045-79528073	IMR90	lung:	n/a	n/a
2	CEBPD	chr6:79529447-79529729	K562	blood:	n/a	n/a
3	CTCF	chr6:79537023-79537073	GM13976	blood:	n/a	n/a
4	CTCF	chr6:79526849-79526879	LNCaP	prostate:	n/a	n/a
5	CTCF	chr6:79532508-79532628	LNCaP	prostate:	n/a	n/a
6	CTCF	chr6:79536540-79536690	K562	blood:	n/a	n/a
7	E2F4	chr6:79522269-79522469	MCF10A-Er-Src	breast:	n/a	n/a
8	ELK1	chr6:79538784-79538786	Hela-S3	cervix:	n/a	n/a
9	FOS	chr6:79538219-79538419	MCF10A-Er-Src	breast:	n/a	chr6:79538351-79538360
10	GATA2	chr6:79522643-79523186	HUVEC	blood vessel:	n/a	n/a
11	GATA3	chr6:79529418-79529768	MCF-7	breast:	n/a	n/a
12	JUND	chr6:79538253-79538488	HepG2	liver:	n/a	chr6:79538351-79538360 chr6:79538350-79538361
13	MAFK	chr6:79521110-79521345	IMR90	lung:	n/a	n/a
14	POLR2A	chr6:79532658-79532701	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:79536123-79536303	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr6:79524028-79524173	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr6:79539737-79539809	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr6:79533699-79534154	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr6:79526013-79526030	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr6:79532471-79532693	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr6:79533795-79534132	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr6:79538225-79538372	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr6:79532766-79532892	GM12878	blood:	n/a	n/a
24	POLR2A	chr6:79521525-79521562	GM12878	blood:	n/a	n/a
25	POLR2A	chr6:79532510-79532746	H1-hESC	embryonic stem cell:	n/a	n/a
26	REST	chr6:79533660-79534175	H1-neurons	neurons:	n/a	n/a
27	REST	chr6:79533592-79534470	H1-neurons	neurons:	n/a	n/a
28	SETDB1	chr6:79532596-79533226	U2OS	brain:	n/a	n/a
29	SPI1	chr6:79539164-79539427	GM12891	blood:	n/a	n/a
30	STAT3	chr6:79525384-79525549	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr6:79524978-79525070	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr6:79533824-79533888	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr6:79537208-79537429	MCF10A-Er-Src	breast:	n/a	n/a
34	YY1	chr6:79532792-79533048	H1-hESC	embryonic stem cell:	n/a	chr6:79532893-79532905 chr6:79532923-79532935

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:79522220..79524770-chr6:79527033..79529117,2	MCF-7	breast:
2	chr6:79537385..79538965-chr6:79541996..79544293,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHIP-1	chr6:79519432-79521881	XLOC_005771
2	lnc-PHIP-1	chr6:79522839-79523020	XLOC_005771

Variant related genes	Relation type
ENSG00000229495	TF binding region
ENSG00000229495	chromatin interactions

Extended variants
information (count: 417 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573991967	chr6:79521361-79521362	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs542881133	chr6:79521371-79521372	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs559313042	chr6:79521374-79521375	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs537698462	chr6:79521403-79521404	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs190868410	chr6:79521435-79521436	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs183005078	chr6:79521440-79521441	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs565038547	chr6:79521485-79521486	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs151217944	chr6:79521494-79521495	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs140448290	chr6:79521518-79521519	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs188141936	chr6:79521524-79521525	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs145238985	chr6:79521558-79521559	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs192146694	chr6:79521572-79521573	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs375924708	chr6:79521623-79521624	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs547247832	chr6:79521627-79521628	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs113498429	chr6:79521683-79521684	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs574286087	chr6:79521707-79521708	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs539210709	chr6:79521712-79521713	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs557614797	chr6:79521745-79521746	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs577814898	chr6:79521757-79521758	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs541391926	chr6:79521774-79521775	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs564868955	chr6:79521775-79521776	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs537101685	chr6:79521781-79521782	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs184290068	chr6:79521797-79521798	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs578120266	chr6:79521806-79521807	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs573658395	chr6:79521825-79521826	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs377757531	chr6:79521826-79521827	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs542591328	chr6:79521831-79521832	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs559589028	chr6:79521862-79521863	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs573004088	chr6:79521865-79521866	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs545194846	chr6:79521871-79521872	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs564699147	chr6:79521889-79521890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530929492	chr6:79521929-79521930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187876155	chr6:79521954-79521955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560972342	chr6:79521975-79521976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140870377	chr6:79521998-79521999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547016598	chr6:79522004-79522005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563851004	chr6:79522054-79522055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370921158	chr6:79522065-79522066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375340819	chr6:79522090-79522091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530605699	chr6:79522100-79522101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532649309	chr6:79522102-79522103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552813406	chr6:79522128-79522129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569437630	chr6:79522130-79522131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537173171	chr6:79522144-79522145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6454086	chr6:79522163-79522164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs192488458	chr6:79522169-79522170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540142830	chr6:79522181-79522182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184651011	chr6:79522182-79522183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372011981	chr6:79522197-79522198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189212961	chr6:79522208-79522209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	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
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	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
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79519000-79521800	Enhancers	HMEC	breast
2	chr6:79519200-79521400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:79519200-79521800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr6:79519200-79521800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:79519600-79521400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:79519800-79521600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:79520600-79521600	Enhancers	NHEK	skin
8	chr6:79521400-79522600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:79521800-79522800	Weak transcription	HMEC	breast
10	chr6:79521800-79527000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:79522800-79523000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:79522800-79523000	Enhancers	HMEC	breast
13	chr6:79539000-79539400	Enhancers	Hela-S3	cervix
14	chr6:79539600-79540200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr6:79539600-79541000	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr6:79539600-79542000	Enhancers	Duodenum Mucosa	Duodenum
17	chr6:79540000-79540200	Enhancers	Fetal Intestine Small	intestine
18	chr6:79540200-79541200	Weak transcription	Fetal Intestine Small	intestine
19	chr6:79540200-79541400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr6:79540400-79542000	Enhancers	Fetal Intestine Large	intestine
21	chr6:79540600-79541600	Enhancers	Ovary	ovary

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