Variant report

Variant	esv3385679
Chromosome Location	chr8:58105348-58107846
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	BHLHE40	chr8:58105853-58106191	K562	blood:	n/a	n/a
2	CBX3	chr8:58105849-58106177	K562	blood:	n/a	n/a
3	CCNT2	chr8:58105900-58106102	K562	blood:	n/a	n/a
4	CHD2	chr8:58105531-58106370	K562	blood:	n/a	n/a
5	CTCF	chr8:58105992-58106227	K562	blood:	n/a	chr8:58106108-58106121
6	CTCFL	chr8:58106011-58106160	K562	blood:	n/a	chr8:58106112-58106121
7	CTCFL	chr8:58105985-58106146	K562	blood:	n/a	chr8:58106112-58106121
8	E2F6	chr8:58105858-58106232	K562	blood:	n/a	chr8:58106105-58106115 chr8:58106133-58106142
9	E2F6	chr8:58105733-58106515	K562	blood:	n/a	chr8:58106433-58106442 chr8:58106105-58106115 chr8:58106133-58106142 chr8:58106435-58106444
10	E2F6	chr8:58105949-58106146	K562	blood:	n/a	chr8:58106105-58106115 chr8:58106133-58106142
11	EGR1	chr8:58105941-58106208	K562	blood:	n/a	chr8:58106133-58106142
12	EGR1	chr8:58106002-58106255	K562	blood:	n/a	chr8:58106133-58106142
13	ELF1	chr8:58105894-58106150	K562	blood:	n/a	n/a
14	ETS1	chr8:58105886-58106248	GM12878	blood:	n/a	n/a
15	GTF2F1	chr8:58106004-58106115	K562	blood:	n/a	n/a
16	HCFC1	chr8:58105853-58106256	K562	blood:	n/a	n/a
17	HEY1	chr8:58105799-58106263	K562	blood:	n/a	n/a
18	HMGN3	chr8:58105784-58106166	K562	blood:	n/a	n/a
19	IRF1	chr8:58106045-58106192	K562	blood:	n/a	n/a
20	JUND	chr8:58105872-58106546	K562	blood:	n/a	chr8:58106434-58106443
21	MAFF	chr8:58105979-58106221	K562	blood:	n/a	n/a
22	MAX	chr8:58105768-58106293	K562	blood:	n/a	chr8:58106034-58106044 chr8:58106035-58106044 chr8:58106036-58106043 chr8:58106034-58106044 chr8:58106035-58106044
23	MAX	chr8:58105825-58106262	K562	blood:	n/a	chr8:58106034-58106044 chr8:58106035-58106044 chr8:58106036-58106043 chr8:58106034-58106044 chr8:58106035-58106044
24	MAX	chr8:58105922-58106175	K562	blood:	n/a	chr8:58106034-58106044 chr8:58106035-58106044 chr8:58106036-58106043 chr8:58106034-58106044 chr8:58106035-58106044
25	MAZ	chr8:58105673-58106399	K562	blood:	n/a	chr8:58106034-58106044 chr8:58106035-58106044 chr8:58106036-58106043 chr8:58106034-58106044 chr8:58106035-58106044
26	MYC	chr8:58105759-58106491	K562	blood:	n/a	chr8:58106034-58106044 chr8:58106035-58106044 chr8:58106036-58106043 chr8:58106034-58106044 chr8:58106035-58106044
27	MYC	chr8:58105677-58106296	K562	blood:	n/a	chr8:58106034-58106044 chr8:58106035-58106044 chr8:58106036-58106043 chr8:58106034-58106044 chr8:58106035-58106044
28	MYC	chr8:58106074-58106128	K562	blood:	n/a	n/a
29	NRF1	chr8:58105956-58106285	K562	blood:	n/a	chr8:58106129-58106143 chr8:58106132-58106141 chr8:58106134-58106143 chr8:58106101-58106112 chr8:58106132-58106146 chr8:58106131-58106142 chr8:58106132-58106143
30	POLR2A	chr8:58105766-58105770	K562	blood:	n/a	n/a
31	POLR2A	chr8:58105774-58106563	K562	blood:	n/a	n/a
32	POLR2A	chr8:58106049-58106300	K562	blood:	n/a	n/a
33	POLR2A	chr8:58106746-58106752	K562	blood:	n/a	n/a
34	POLR2A	chr8:58105877-58106270	K562	blood:	n/a	n/a
35	POLR2A	chr8:58105826-58106574	K562	blood:	n/a	n/a
36	POLR2A	chr8:58105840-58106520	K562	blood:	n/a	n/a
37	RCOR1	chr8:58105914-58106205	K562	blood:	n/a	n/a
38	TBP	chr8:58105980-58106247	K562	blood:	n/a	n/a
39	USF1	chr8:58105826-58106274	K562	blood:	n/a	n/a
40	YY1	chr8:58105949-58106175	K562	blood:	n/a	chr8:58105970-58105981
41	ZBTB33	chr8:58105860-58106248	K562	blood:	n/a	chr8:58106099-58106109
42	ZBTB33	chr8:58105806-58106242	K562	blood:	n/a	chr8:58106099-58106109

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:58106598-58106648	T-47D	breast:	n/a
2	chr8:58106155-58106205	HIPEpiC	eye:	n/a
3	chr8:58106155-58106205	Hepatocyte	liver:	n/a
4	chr8:58106155-58106205	PFSK-1	brain:	n/a
5	chr8:58106598-58106648	HNPCEpiC	eye:	n/a
6	chr8:58106520-58106570	U87	brain:	n/a
7	chr8:58106155-58106205	MCF10A-Er-Src	breast:	n/a
8	chr8:58106520-58106570	GM12878	blood:	n/a
9	chr8:58106520-58106570	AG09309	skin:	n/a
10	chr8:58106155-58106205	BE2_C	brain:	n/a
11	chr8:58106155-58106205	SKMC	muscle:	n/a
12	chr8:58106598-58106648	HCM	heart:	n/a
13	chr8:58106155-58106205	HPAEpiC	pulmonary alveolar:	n/a
14	chr8:58106598-58106648	AG10803	skin:	n/a
15	chr8:58106155-58106205	U87	brain:	n/a
16	chr8:58106155-58106205	AG09309	skin:	n/a
17	chr8:58106598-58106648	HRPEpiC	eye:	n/a
18	chr8:58106155-58106205	HUVEC	blood vessel:	n/a
19	chr8:58106094-58106144	PFSK-1	brain:	n/a
20	chr8:58106598-58106648	HepG2	liver:	n/a
21	chr8:58106520-58106570	NHBE	bronchial:	n/a
22	chr8:58106520-58106570	PrEC	prostate:	n/a
23	chr8:58106094-58106144	SK-N-MC	brain:	n/a
24	chr8:58106155-58106205	HEK293	kidney:	embryo
25	chr8:58106155-58106205	ovcar-3	ovarian:	n/a
26	chr8:58106598-58106648	MCF-7	breast:	n/a
27	chr8:58106520-58106570	HMEC	breast:	n/a
28	chr8:58106094-58106144	HMEC	breast:	n/a
29	chr8:58106155-58106205	HRE	kidney:	n/a
30	chr8:58106155-58106205	BJ	skin:	n/a
31	chr8:58106520-58106570	HCM	heart:	n/a
32	chr8:58106598-58106648	HMEC	breast:	n/a
33	chr8:58106094-58106144	HUVEC	blood vessel:	n/a
34	chr8:58106520-58106570	AG04449	skin:	fetal
35	chr8:58106155-58106205	MCF-7	breast:	n/a
36	chr8:58106598-58106648	ovcar-3	ovarian:	n/a
37	chr8:58106094-58106144	HL-60	blood:	n/a
38	chr8:58106155-58106205	SAEC	small airway:	n/a
39	chr8:58106094-58106144	HepG2	liver:	n/a
40	chr8:58106155-58106205	GM19239	blood:	n/a
41	chr8:58106155-58106205	SK-N-SH_RA	brain:	n/a
42	chr8:58106520-58106570	BJ	skin:	n/a
43	chr8:58106155-58106205	Hela-S3	cervix:	n/a
44	chr8:58106598-58106648	AG04449	skin:	fetal
45	chr8:58106520-58106570	HNPCEpiC	eye:	n/a
46	chr8:58106520-58106570	ECC-1	luminal epithelium:	n/a
47	chr8:58106155-58106205	LNCaP	prostate:	n/a
48	chr8:58106520-58106570	GM19239	blood:	n/a
49	chr8:58106094-58106144	NT2-D1	testis:	n/a
50	chr8:58106094-58106144	SAEC	small airway:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM110B-8	chr8:58106444-58106570	ENSG00000253301.1
2	lnc-FAM110B-8	chr8:58106179-58106275	ENSG00000253301.1
3	lnc-FAM110B-8	chr8:58106444-58106570	ENSG00000253301.1
4	lnc-FAM110B-8	chr8:58106149-58106248	ENSG00000253301.1

Variant related genes	Relation type
ENSG00000253301	TF binding region
ENSG00000253301	CpG island

Extended variants
information (count: 112 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560467571	chr8:58105403-58105404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532296317	chr8:58105404-58105405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552444331	chr8:58105422-58105423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565372933	chr8:58105604-58105605	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs189821082	chr8:58105605-58105606	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs17194529	chr8:58105647-58105648	Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs142751797	chr8:58105716-58105717	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs66477547	chr8:58105763-58105764	Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs375741838	chr8:58105767-58105768	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs566827670	chr8:58105778-58105779	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs182147706	chr8:58105781-58105782	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs558919617	chr8:58105784-58105785	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs75644437	chr8:58105793-58105794	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs371059090	chr8:58105795-58105796	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs537514371	chr8:58105797-58105798	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs574321511	chr8:58105814-58105815	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs386725758	chr8:58105856-58105857	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs56066782	chr8:58105857-58105858	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs17802743	chr8:58105897-58105898	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs375832982	chr8:58105908-58105909	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs564968880	chr8:58105926-58105927	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs528529809	chr8:58105927-58105928	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs577247221	chr8:58105944-58105945	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs55955962	chr8:58105952-58105953	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs397933649	chr8:58105953-58105954	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs16921807	chr8:58105967-58105968	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs372853258	chr8:58105993-58105994	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs56235637	chr8:58106008-58106009	Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs117008184	chr8:58106023-58106024	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs77494377	chr8:58106030-58106031	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs529991664	chr8:58106036-58106037	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs16921808	chr8:58106049-58106050	Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs566815342	chr8:58106051-58106052	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs532694050	chr8:58106056-58106057	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs16921810	chr8:58106067-58106068	Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs569316350	chr8:58106070-58106071	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs567034099	chr8:58106071-58106072	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs538441625	chr8:58106095-58106096	Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs532874963	chr8:58106111-58106112	Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs554318611	chr8:58106114-58106115	Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs568206283	chr8:58106118-58106119	Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs533758045	chr8:58106141-58106142	Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs372984165	chr8:58106152-58106153	Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs375583280	chr8:58106167-58106168	Enhancers Active TSS	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs577191318	chr8:58106174-58106175	Enhancers Active TSS	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs545753492	chr8:58106182-58106183	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
47	rs556439516	chr8:58106193-58106194	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
48	rs13253625	chr8:58106206-58106207	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
49	rs16920056	chr8:58106218-58106219	Weak transcription Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs373501573	chr8:58106230-58106231	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58105400-58105600	Enhancers	K562	blood
2	chr8:58105600-58106000	Flanking Active TSS	K562	blood
3	chr8:58105800-58106000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:58106000-58106200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:58106000-58107200	Active TSS	K562	blood
6	chr8:58106200-58114800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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