Variant report

Variant	esv3324625
Chromosome Location	chr8:106926825-106951186
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	chr8:106945692-106945856	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr8:106945373-106945613	GM12878	blood:	n/a	n/a
3	CBX3	chr8:106930473-106930765	K562	blood:	n/a	n/a
4	CBX3	chr8:106929016-106929303	K562	blood:	n/a	n/a
5	CEBPB	chr8:106945332-106945750	MCF-7	breast:	n/a	chr8:106945470-106945483 chr8:106945470-106945481
6	CEBPB	chr8:106941583-106941835	H1-hESC	embryonic stem cell:	n/a	chr8:106941701-106941712
7	CEBPB	chr8:106945319-106945647	H1-hESC	embryonic stem cell:	n/a	chr8:106945470-106945483 chr8:106945470-106945481
8	CEBPB	chr8:106941584-106941859	A549	lung:	n/a	chr8:106941701-106941712
9	CEBPB	chr8:106941553-106941884	IMR90	lung:	n/a	chr8:106941701-106941712
10	CEBPB	chr8:106945296-106945660	IMR90	lung:	n/a	chr8:106945470-106945483 chr8:106945470-106945481
11	CEBPB	chr8:106945289-106945669	HepG2	liver:	n/a	chr8:106945470-106945483 chr8:106945470-106945481
12	CEBPB	chr8:106945305-106945651	A549	lung:	n/a	chr8:106945470-106945483 chr8:106945470-106945481
13	CEBPB	chr8:106930368-106930574	IMR90	lung:	n/a	n/a
14	CEBPB	chr8:106945290-106945700	Hela-S3	cervix:	n/a	chr8:106945470-106945483 chr8:106945470-106945481
15	CEBPB	chr8:106945296-106945671	MCF-7	breast:	n/a	chr8:106945470-106945483 chr8:106945470-106945481
16	CEBPB	chr8:106941559-106941870	HepG2	liver:	n/a	chr8:106941701-106941712
17	CEBPB	chr8:106945295-106945667	K562	blood:	n/a	chr8:106945470-106945483 chr8:106945470-106945481
18	CEBPB	chr8:106930362-106930587	A549	lung:	n/a	n/a
19	CEBPB	chr8:106941546-106941859	K562	blood:	n/a	chr8:106941701-106941712
20	CTCF	chr8:106945400-106945550	GM12801	blood:	n/a	chr8:106945454-106945472 chr8:106945456-106945477
21	CTCF	chr8:106945280-106945645	K562	blood:	n/a	chr8:106945454-106945472 chr8:106945456-106945477
22	CTCF	chr8:106945369-106945545	Pancreas_OC	pancreas:	n/a	chr8:106945454-106945472 chr8:106945456-106945477
23	CTCF	chr8:106945420-106945570	AG09309	skin:	n/a	chr8:106945454-106945472 chr8:106945456-106945477
24	CTCF	chr8:106945420-106945570	HAc	cerebellar:	n/a	chr8:106945454-106945472 chr8:106945456-106945477
25	CTCF	chr8:106945175-106945714	MCF-7	breast:	n/a	chr8:106945454-106945472 chr8:106945456-106945477
26	CTCF	chr8:106945406-106945538	MCF-7	breast:	n/a	chr8:106945454-106945472 chr8:106945456-106945477
27	CTCF	chr8:106945393-106945540	GM13976	blood:	n/a	chr8:106945454-106945472 chr8:106945456-106945477
28	CTCF	chr8:106945460-106945610	GM12873	blood:	n/a	n/a
29	CTCF	chr8:106945360-106945510	HUVEC	blood vessel:	n/a	chr8:106945454-106945472 chr8:106945456-106945477
30	CTCF	chr8:106945246-106945658	MCF-7	breast:	n/a	chr8:106945454-106945472 chr8:106945456-106945477
31	CTCF	chr8:106945560-106945710	BE2_C	brain:	n/a	n/a
32	CTCF	chr8:106945380-106945530	AoAF	blood vessel:	n/a	chr8:106945454-106945472 chr8:106945456-106945477
33	CTCF	chr8:106945371-106945373	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr8:106945620-106945770	GM12872	blood:	n/a	n/a
35	CTCF	chr8:106945380-106945530	MCF-7	breast:	n/a	chr8:106945454-106945472 chr8:106945456-106945477
36	CTCF	chr8:106945480-106945630	HA-sp	spinal cord:	n/a	n/a
37	CTCF	chr8:106945277-106945658	GM12878	blood:	n/a	chr8:106945454-106945472 chr8:106945456-106945477
38	CTCF	chr8:106945480-106945630	HCM	heart:	n/a	n/a
39	CTCF	chr8:106945420-106945570	BE2_C	brain:	n/a	chr8:106945454-106945472 chr8:106945456-106945477
40	CTCF	chr8:106945340-106945490	NHDF-neo	bronchial:	n/a	chr8:106945454-106945472 chr8:106945456-106945477
41	CTCF	chr8:106945400-106945550	HCPEpiC	choroid plexus:	n/a	chr8:106945454-106945472 chr8:106945456-106945477
42	CTCF	chr8:106940400-106940550	GM12869	blood:	n/a	n/a
43	CTCF	chr8:106945460-106945610	RPTEC	kidney:	n/a	n/a
44	CTCF	chr8:106945300-106945450	HFF-Myc	foreskin:	n/a	n/a
45	CTCF	chr8:106945440-106945590	HPF	lung:	n/a	chr8:106945454-106945472 chr8:106945456-106945477
46	CTCF	chr8:106945100-106945770	HCT-116	colon:	n/a	chr8:106945454-106945472 chr8:106945456-106945477
47	CTCF	chr8:106945078-106945836	SK-N-SH	brain:	n/a	chr8:106945454-106945472 chr8:106945456-106945477
48	CTCF	chr8:106945380-106945530	GM12872	blood:	n/a	chr8:106945454-106945472 chr8:106945456-106945477
49	CTCF	chr8:106945400-106945550	HPAF	blood vessel:	n/a	chr8:106945454-106945472 chr8:106945456-106945477
50	CTCF	chr8:106945380-106945530	HRPEpiC	eye:	n/a	chr8:106945454-106945472 chr8:106945456-106945477

No.	Distal block	Cell Line	Cell type
1	chr8:106944949..106945870-chr8:107534079..107534638,3	MCF-7	breast:
2	chr8:106945007..106945989-chr8:107093330..107093872,2	K562	blood:
3	chr8:106932622..106934542-chr8:106950174..106953659,3	K562	blood:
4	chr8:106939707..106941922-chr8:106944290..106946976,2	K562	blood:
5	chr8:106941329..106943808-chr8:106947861..106949687,2	K562	blood:
6	chr8:106938733..106940433-chr8:106941479..106943648,2	K562	blood:
7	chr8:106945057..106945974-chr8:107604226..107604770,2	MCF-7	breast:
8	chr8:106945333..106945909-chr8:108791751..108792331,2	MCF-7	breast:
9	chr8:106945168..106945969-chr8:107205051..107205557,2	K562	blood:
10	chr8:106944912..106945818-chr8:107773624..107774542,2	MCF-7	breast:
11	chr8:106938733..106940433-chr8:106941479..106943648,2	K562	blood:
12	chr8:106932622..106934542-chr8:106950174..106953659,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-778D12.2.1-4	chr8:106939879-106939945	ENSG00000251003.2
2	lnc-RP11-778D12.2.1-4	chr8:106939870-106939945	ENSG00000251003.2
3	lnc-RP11-778D12.2.1-4	chr8:106939879-106939945	ENSG00000251003.2
4	lnc-RP11-778D12.2.1-4	chr8:106939879-106939945	ENSG00000251003.2
5	lnc-RP11-778D12.2.1-4	chr8:106939879-106939945	ENSG00000251003.2

Variant related genes	Relation type
ENSG00000251003	TF binding region
ENSG00000201627	TF binding region
ENSG00000201627	chromatin interactions

Extended variants
information (count: 336 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:336 , 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	rs528746484	chr8:106926825-106926826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12676365	chr8:106926868-106926869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563985085	chr8:106926880-106926881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531453455	chr8:106926885-106926886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185813509	chr8:106926923-106926924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569465333	chr8:106926971-106926972	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs114782926	chr8:106926984-106926985	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs548937794	chr8:106926985-106926986	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs77976036	chr8:106926992-106926993	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs566866981	chr8:106927015-106927016	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs190295696	chr8:106927091-106927092	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs12543428	chr8:106927229-106927230	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs145982300	chr8:106927240-106927241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570822998	chr8:106927295-106927296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565734778	chr8:106927445-106927446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538358175	chr8:106927447-106927448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534757734	chr8:106927460-106927461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs60859367	chr8:106927468-106927469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs574616596	chr8:106927485-106927486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541720037	chr8:106927571-106927572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116882615	chr8:106927591-106927592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572018922	chr8:106927624-106927625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536673042	chr8:106927638-106927639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545361814	chr8:106927683-106927684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77210435	chr8:106927704-106927705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139865435	chr8:106927717-106927718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73293419	chr8:106927776-106927777	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs60630754	chr8:106927851-106927852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs1496177	chr8:106927856-106927857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs548801158	chr8:106927899-106927900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116730064	chr8:106927907-106927908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs59483767	chr8:106927918-106927919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs118107398	chr8:106927922-106927923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370844129	chr8:106927937-106927938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542399565	chr8:106927979-106927980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377105348	chr8:106928053-106928054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369773882	chr8:106928098-106928099	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs182181709	chr8:106928194-106928195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568465627	chr8:106928205-106928206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78852280	chr8:106928207-106928208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185126118	chr8:106928258-106928259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75340201	chr8:106928270-106928271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539378909	chr8:106928305-106928306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557455836	chr8:106928306-106928307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78355739	chr8:106928307-106928308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs16892417	chr8:106928320-106928321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs561773574	chr8:106928357-106928358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62525689	chr8:106928361-106928362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573787811	chr8:106928362-106928363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566854092	chr8:106928387-106928388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:106915200-106930200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:106921000-106929800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:106929800-106931200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:106945600-106946000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:106947200-106947600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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