Variant report

Variant	esv2762561
Chromosome Location	chr5:154403211-154408886
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:200)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:200 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:154407625-154407940	HepG2	liver:	n/a	n/a
2	ATF2	chr5:154403541-154404042	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr5:154403546-154404022	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr5:154403740-154404035	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr5:154403779-154404000	GM12878	blood:	n/a	n/a
6	CTCF	chr5:154407530-154407905	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr5:154407673-154407915	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr5:154407736-154407832	Fibrobl	skin:	n/a	n/a
9	CTCF	chr5:154407575-154407867	A549	lung:	n/a	n/a
10	CTCF	chr5:154407720-154407870	GM12875	blood:	n/a	n/a
11	CTCF	chr5:154407760-154407910	HCFaa	heart:	n/a	n/a
12	CTCF	chr5:154407680-154407830	HEEpiC	esophagus:	n/a	n/a
13	CTCF	chr5:154407585-154407959	A549	lung:	n/a	n/a
14	CTCF	chr5:154407752-154407813	Spleen_OC	spleen:	n/a	n/a
15	CTCF	chr5:154407700-154407850	HMF	breast:	n/a	n/a
16	CTCF	chr5:154407760-154407910	A549	lung:	n/a	n/a
17	CTCF	chr5:154407660-154407810	Caco-2	colon:	n/a	n/a
18	CTCF	chr5:154407720-154407870	HPAF	blood vessel:	n/a	n/a
19	CTCF	chr5:154407685-154407890	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr5:154407645-154407876	A549	lung:	n/a	n/a
21	CTCF	chr5:154407489-154408074	HCT-116	colon:	n/a	n/a
22	CTCF	chr5:154407700-154407850	GM12871	blood:	n/a	n/a
23	CTCF	chr5:154407712-154407861	GM13977	blood:	n/a	n/a
24	CTCF	chr5:154407680-154407830	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr5:154407700-154407850	RPTEC	kidney:	n/a	n/a
26	CTCF	chr5:154407711-154407849	Medullo	brain:	n/a	n/a
27	CTCF	chr5:154407682-154407831	GM19240	blood:	n/a	n/a
28	CTCF	chr5:154407720-154407870	HFF	foreskin:	n/a	n/a
29	CTCF	chr5:154407680-154407830	AG04449	skin:	n/a	n/a
30	CTCF	chr5:154407683-154407825	GM19238	blood:	n/a	n/a
31	CTCF	chr5:154407664-154407922	LNCaP	prostate:	n/a	n/a
32	CTCF	chr5:154407740-154407890	AG09309	skin:	n/a	n/a
33	CTCF	chr5:154407501-154408104	A549	lung:	n/a	n/a
34	CTCF	chr5:154407693-154407837	Gliobla	brain:	n/a	n/a
35	CTCF	chr5:154403663-154403687	GM20000	blood:	n/a	n/a
36	CTCF	chr5:154407720-154407870	GM12878	blood:	n/a	n/a
37	CTCF	chr5:154407627-154407972	K562	blood:	n/a	n/a
38	CTCF	chr5:154407667-154407911	GM12878	blood:	n/a	n/a
39	CTCF	chr5:154407680-154407830	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr5:154407640-154407790	HCT-116	colon:	n/a	n/a
41	CTCF	chr5:154407721-154407805	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr5:154407700-154407850	GM12867	blood:	n/a	n/a
43	CTCF	chr5:154407715-154407840	GM19239	blood:	n/a	n/a
44	CTCF	chr5:154407700-154407850	HCM	heart:	n/a	n/a
45	CTCF	chr5:154407665-154407888	MCF-7	breast:	n/a	n/a
46	CTCF	chr5:154407700-154407850	GM12864	blood:	n/a	n/a
47	CTCF	chr5:154407720-154407870	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr5:154407660-154407810	GM12870	blood:	n/a	n/a
49	CTCF	chr5:154407700-154407850	HA-sp	spinal cord:	n/a	n/a
50	CTCF	chr5:154407620-154407770	GM12872	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:154350796..154352485-chr5:154407366..154409300,2	MCF-7	breast:
2	chr5:154325163..154325827-chr5:154407312..154407816,2	MCF-7	breast:
3	chr5:154346758..154347900-chr5:154407299..154408191,5	MCF-7	breast:
4	chr5:154351777..154353155-chr5:154407250..154408188,7	MCF-7	breast:
5	chr5:154403482..154404265-chr5:154448109..154448989,2	MCF-7	breast:
6	chr5:154351810..154352823-chr5:154407320..154408737,6	MCF-7	breast:
7	chr5:154402654..154405325-chr5:154405571..154408812,3	MCF-7	breast:
8	chr5:154347004..154347710-chr5:154407157..154407900,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000221131	TF binding region
ENSG00000221131	chromatin interactions

Extended variants
information (count: 207 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9324797	chr5:154403211-154403212	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9324798	chr5:154403223-154403224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189817487	chr5:154403337-154403338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77278123	chr5:154403351-154403352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75734829	chr5:154403352-154403353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs286618	chr5:154403396-154403397	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs182831920	chr5:154403432-154403433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559229641	chr5:154403457-154403458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569446158	chr5:154403469-154403470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538492144	chr5:154403470-154403471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556687856	chr5:154403487-154403488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564116543	chr5:154403503-154403504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540591102	chr5:154403575-154403576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573274344	chr5:154403599-154403600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6873298	chr5:154403613-154403614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552636875	chr5:154403647-154403648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144391178	chr5:154403648-154403649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555774047	chr5:154403660-154403661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544875443	chr5:154403670-154403671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs55935891	chr5:154403694-154403695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186506306	chr5:154403695-154403696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544446033	chr5:154403803-154403804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561285532	chr5:154403832-154403833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530078810	chr5:154403854-154403855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6893162	chr5:154403877-154403878	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs145148460	chr5:154403912-154403913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191251338	chr5:154403927-154403928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138392123	chr5:154404005-154404006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569387772	chr5:154404051-154404052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148813762	chr5:154404097-154404098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183431243	chr5:154404106-154404107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566960180	chr5:154404149-154404150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7736342	chr5:154404176-154404177	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs143500847	chr5:154404208-154404209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188536697	chr5:154404233-154404234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534219789	chr5:154404245-154404246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548770425	chr5:154404251-154404252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192105267	chr5:154404329-154404330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73807230	chr5:154404335-154404336	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs575365095	chr5:154404388-154404389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544192071	chr5:154404393-154404394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148007568	chr5:154404447-154404448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7718551	chr5:154404449-154404450	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs540627143	chr5:154404478-154404479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7736564	chr5:154404495-154404496	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs375477096	chr5:154404524-154404525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143661976	chr5:154404545-154404546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147186354	chr5:154404554-154404555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73282576	chr5:154404581-154404582	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs531918809	chr5:154404589-154404590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Deafness	19353646	CNVD
Developmental delay	19353646	CNVD
dysmorphism	19353646	CNVD
feeding difficulties	19353646	CNVD
strabismus	19353646	CNVD
Gastric adenocarcinoma	19115996	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Epilepsy	20502679	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154399600-154403600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr5:154399600-154403600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:154402800-154404000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr5:154402800-154404600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:154403000-154404000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:154403200-154403400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:154403200-154403600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:154403200-154404600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:154403400-154403800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:154403400-154404000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:154403600-154404000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr5:154403600-154404000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:154403600-154404000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:154403600-154404200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:154404000-154404200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:154404000-154407400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr5:154404000-154413400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:154404600-154407400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:154405200-154406000	Enhancers	Fetal Heart	heart
20	chr5:154407400-154407800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:154407400-154407800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr5:154407400-154407800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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