Variant report

Variant	nsv982122
Chromosome Location	chr8:11236248-11247874
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	chr8:11244061-11244296	A549	lung:	n/a	chr8:11244236-11244249 chr8:11244237-11244248 chr8:11244236-11244247 chr8:11244236-11244249
2	CEBPB	chr8:11244101-11244368	HepG2	liver:	n/a	chr8:11244236-11244249 chr8:11244237-11244248 chr8:11244236-11244247 chr8:11244236-11244249
3	CEBPB	chr8:11244124-11244287	K562	blood:	n/a	chr8:11244236-11244249 chr8:11244237-11244248 chr8:11244236-11244247 chr8:11244236-11244249
4	CTCF	chr8:11247860-11248010	GM12873	blood:	n/a	n/a
5	CTCF	chr8:11245280-11245430	GM06990	blood:	n/a	n/a
6	CTCF	chr8:11247820-11247970	GM12865	blood:	n/a	n/a
7	CTCF	chr8:11247780-11247930	HepG2	liver:	n/a	n/a
8	EP300	chr8:11244101-11244231	K562	blood:	n/a	n/a
9	FAM48A	chr8:11242412-11242504	GM12878	blood:	n/a	n/a
10	GATA3	chr8:11244654-11245125	MCF-7	breast:	n/a	n/a
11	GATA3	chr8:11243460-11243578	SH-SY5Y	brain:	n/a	n/a
12	GATA3	chr8:11242987-11243071	SH-SY5Y	brain:	n/a	n/a
13	IRF1	chr8:11238482-11238807	K562	blood:	n/a	n/a
14	MAFF	chr8:11246513-11246670	HepG2	liver:	n/a	chr8:11246597-11246611 chr8:11246598-11246616
15	MAFF	chr8:11243930-11244072	HepG2	liver:	n/a	chr8:11243981-11243995 chr8:11243982-11244000
16	MAFK	chr8:11243942-11244103	HepG2	liver:	n/a	chr8:11243978-11243998 chr8:11243983-11243998 chr8:11243980-11243996
17	MAFK	chr8:11243901-11244101	HepG2	liver:	n/a	chr8:11243978-11243998 chr8:11243983-11243998 chr8:11243980-11243996
18	MAFK	chr8:11246526-11246726	HepG2	liver:	n/a	chr8:11246597-11246611 chr8:11246594-11246614 chr8:11246596-11246612 chr8:11246599-11246614
19	MAFK	chr8:11246439-11246723	HepG2	liver:	n/a	chr8:11246597-11246611 chr8:11246594-11246614 chr8:11246596-11246612 chr8:11246599-11246614
20	MYC	chr8:11245996-11246142	H1-hESC	embryonic stem cell:	n/a	n/a
21	NFIC	chr8:11235876-11236316	GM12878	blood:	n/a	n/a
22	POLR2A	chr8:11247328-11247426	Gliobla	brain:	n/a	n/a
23	POLR2A	chr8:11239540-11239615	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr8:11242418-11242504	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr8:11247773-11247777	Gliobla	brain:	n/a	n/a
26	RFX5	chr8:11244116-11244130	K562	blood:	n/a	n/a
27	SPI1	chr8:11235824-11236417	GM12878	blood:	n/a	chr8:11236097-11236106

No.	Distal block	Cell Line	Cell type
1	chr8:11142292..11144724-chr8:11241964..11244169,2	K562	blood:
2	chr8:11142292..11144039-chr8:11239776..11243464,3	K562	blood:
3	chr8:11235300..11237155-chr8:11240662..11242925,2	K562	blood:
4	chr8:11242265..11244818-chr8:11252582..11254482,2	MCF-7	breast:
5	chr8:11241230..11243986-chr8:11247872..11250169,2	K562	blood:
6	chr8:11220966..11222998-chr8:11244334..11246099,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf12-1	chr8:11241322-11241510	NR_026814
2	lnc-SLC35G5-1	chr8:11236904-11237200	NONHSAT125053

Variant related genes	Relation type
RN7SL293P	TF binding region
C8orf12	TF binding region
ENSG00000104643	chromatin interactions
ENSG00000242483	chromatin interactions
ENSG00000184608	chromatin interactions
ENSG00000199368	chromatin interactions

Extended variants
information (count: 465 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:465 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150154207	chr8:11236266-11236267	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs561520710	chr8:11236274-11236275	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs183347973	chr8:11236296-11236297	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs535685929	chr8:11236320-11236321	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs117463806	chr8:11236329-11236330	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs187834977	chr8:11236331-11236332	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs138648019	chr8:11236350-11236351	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs539323915	chr8:11236367-11236368	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs557600284	chr8:11236386-11236387	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs2572389	chr8:11236392-11236393	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs540195932	chr8:11236400-11236401	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs555835828	chr8:11236403-11236404	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs386722261	chr8:11236413-11236414	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs2736302	chr8:11236419-11236420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs562925958	chr8:11236435-11236436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532358322	chr8:11236446-11236447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533697400	chr8:11236452-11236453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545730207	chr8:11236464-11236465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560725469	chr8:11236470-11236471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528095716	chr8:11236474-11236475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2572388	chr8:11236475-11236476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs192722893	chr8:11236552-11236553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7821302	chr8:11236572-11236573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs550778204	chr8:11236579-11236580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568977035	chr8:11236583-11236584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547490523	chr8:11236604-11236605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567637213	chr8:11236608-11236609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116884079	chr8:11236625-11236626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116168360	chr8:11236634-11236635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7821459	chr8:11236681-11236682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs7834572	chr8:11236685-11236686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs574113046	chr8:11236686-11236687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568654677	chr8:11236708-11236709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371763665	chr8:11236739-11236740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149340712	chr8:11236767-11236768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4631424	chr8:11236809-11236810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs2736303	chr8:11236850-11236851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs7003990	chr8:11236851-11236852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs147463600	chr8:11236890-11236891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139957742	chr8:11236898-11236899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540255774	chr8:11236904-11236905	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs183465260	chr8:11236936-11236937	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs2736304	chr8:11236964-11236965	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs2572386	chr8:11236975-11236976	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs187937482	chr8:11236999-11237000	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs143932801	chr8:11237020-11237021	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs147297121	chr8:11237040-11237041	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs566472286	chr8:11237163-11237164	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs533830335	chr8:11237167-11237168	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs549388606	chr8:11237175-11237176	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:139)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11218000-11237600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:11244600-11244800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr8:11244600-11248000	Enhancers	Pancreas	Pancrea
4	chr8:11244800-11245000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:11244800-11245200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:11244800-11245600	Enhancers	NHEK	skin
7	chr8:11245000-11245200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:11245200-11247800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:11245600-11247200	Weak transcription	NHEK	skin
10	chr8:11246200-11246600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr8:11246400-11246600	Enhancers	Gastric	stomach
12	chr8:11246600-11250200	Weak transcription	Gastric	stomach
13	chr8:11247200-11247400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:11247200-11248200	Bivalent Enhancer	NHEK	skin
15	chr8:11247400-11248200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:11247600-11247800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:11247800-11248000	Enhancers	Spleen	Spleen
18	chr8:11247800-11248400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:11247800-11248600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:11247800-11248600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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