Variant report

Variant	nsv1034533
Chromosome Location	chr8:114413358-114436712
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	BRCA1	chr8:114436217-114436543	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr8:114436204-114436434	A549	lung:	n/a	n/a
3	CEBPB	chr8:114435974-114436714	Hela-S3	cervix:	n/a	chr8:114436429-114436441
4	CEBPB	chr8:114433771-114434347	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr8:114435276-114435729	Hela-S3	cervix:	n/a	chr8:114435503-114435514 chr8:114435473-114435484 chr8:114435526-114435537
6	CEBPB	chr8:114428539-114428690	A549	lung:	n/a	n/a
7	CEBPB	chr8:114435343-114435658	HepG2	liver:	n/a	chr8:114435503-114435514 chr8:114435473-114435484 chr8:114435526-114435537
8	E2F4	chr8:114435263-114435643	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr8:114435370-114435780	Hela-S3	cervix:	n/a	chr8:114435606-114435616
10	EP300	chr8:114433801-114434211	Hela-S3	cervix:	n/a	n/a
11	EP300	chr8:114436095-114436614	Hela-S3	cervix:	n/a	n/a
12	FAM48A	chr8:114436444-114436475	GM12878	blood:	n/a	n/a
13	FAM48A	chr8:114435889-114435966	GM12878	blood:	n/a	n/a
14	FOS	chr8:114416086-114416180	MCF10A-Er-Src	breast:	n/a	chr8:114416125-114416135 chr8:114416125-114416135 chr8:114416126-114416135
15	FOXP2	chr8:114418150-114418324	SK-N-MC	brain:	n/a	n/a
16	FOXP2	chr8:114435395-114435740	SK-N-MC	brain:	n/a	n/a
17	FOXP2	chr8:114418064-114418403	SK-N-MC	brain:	n/a	n/a
18	JUN	chr8:114436140-114436621	Hela-S3	cervix:	n/a	n/a
19	JUND	chr8:114435870-114436645	Hela-S3	cervix:	n/a	chr8:114435986-114435998
20	KAP1	chr8:114433440-114433533	K562	blood:	n/a	n/a
21	MAFF	chr8:114436219-114436537	HepG2	liver:	n/a	chr8:114436361-114436379
22	MAFF	chr8:114436381-114436410	K562	blood:	n/a	n/a
23	MAFF	chr8:114435609-114436015	HepG2	liver:	n/a	chr8:114435861-114435879
24	MAFK	chr8:114435599-114436031	HepG2	liver:	n/a	chr8:114435815-114435830 chr8:114435863-114435878
25	MAFK	chr8:114436242-114436472	IMR90	lung:	n/a	chr8:114436419-114436433 chr8:114436364-114436373
26	MAFK	chr8:114436253-114436532	HepG2	liver:	n/a	chr8:114436419-114436433 chr8:114436364-114436373
27	MAFK	chr8:114435379-114436610	Hela-S3	cervix:	n/a	chr8:114435815-114435830 chr8:114435863-114435878 chr8:114436419-114436433 chr8:114436364-114436373
28	MAFK	chr8:114435739-114436543	HepG2	liver:	n/a	chr8:114435815-114435830 chr8:114435863-114435878 chr8:114436419-114436433 chr8:114436364-114436373
29	MYC	chr8:114429721-114429889	MCF10A-Er-Src	breast:	n/a	n/a
30	MYC	chr8:114430379-114430462	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr8:114433874-114434246	SK-N-MC	brain:	n/a	n/a
32	POLR2A	chr8:114417914-114418425	SK-N-MC	brain:	n/a	n/a
33	POLR2A	chr8:114415634-114416363	SK-N-MC	brain:	n/a	n/a
34	POLR2A	chr8:114434510-114434639	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr8:114428362-114428845	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr8:114426332-114426342	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr8:114415959-114416148	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr8:114419006-114419012	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr8:114418544-114418760	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr8:114435367-114435437	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr8:114415251-114415434	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr8:114426575-114426684	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr8:114425713-114425854	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr8:114416060-114416095	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr8:114424027-114424030	MCF10A-Er-Src	breast:	n/a	n/a
46	RAD21	chr8:114436239-114436613	Hela-S3	cervix:	n/a	n/a
47	RCOR1	chr8:114422547-114422552	K562	blood:	n/a	n/a
48	RCOR1	chr8:114436162-114436598	Hela-S3	cervix:	n/a	n/a
49	RFX5	chr8:114436143-114436603	Hela-S3	cervix:	n/a	n/a
50	SRF	chr8:114431373-114431479	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:114435797..114438781-chr8:114443874..114445936,2	K562	blood:

Variant related genes	Relation type
ENSG00000221610	TF binding region

Extended variants
information (count: 413 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:413 , 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	rs16884604	chr8:114413411-114413412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149987033	chr8:114413416-114413417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75979478	chr8:114413490-114413491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375817734	chr8:114413507-114413508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145210685	chr8:114413535-114413536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542696882	chr8:114413683-114413684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540687503	chr8:114413684-114413685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375232236	chr8:114413697-114413698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369657531	chr8:114413763-114413764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149164613	chr8:114413779-114413780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186615750	chr8:114413821-114413822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562674107	chr8:114413865-114413866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188675354	chr8:114413888-114413889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372889396	chr8:114413893-114413894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116647024	chr8:114413912-114413913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531597669	chr8:114413998-114413999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562055774	chr8:114414021-114414022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527642375	chr8:114414079-114414080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547476252	chr8:114414272-114414273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564550375	chr8:114414324-114414325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180760427	chr8:114414337-114414338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185255176	chr8:114414372-114414373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10107745	chr8:114414380-114414381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs938248	chr8:114414382-114414383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs202095439	chr8:114414411-114414412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34149874	chr8:114414467-114414468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200885147	chr8:114414468-114414469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202058581	chr8:114414469-114414470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35835856	chr8:114414471-114414472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11993804	chr8:114414535-114414536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs369277422	chr8:114414814-114414815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553835937	chr8:114414831-114414832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1473878	chr8:114414833-114414834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565649762	chr8:114414976-114414977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563246532	chr8:114415090-114415091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143742774	chr8:114415091-114415092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545042777	chr8:114415134-114415135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114186661	chr8:114415162-114415163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373185969	chr8:114415168-114415169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539720056	chr8:114415193-114415194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556458487	chr8:114415201-114415202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576193373	chr8:114415219-114415220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542026699	chr8:114415253-114415254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs16884607	chr8:114415265-114415266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572444450	chr8:114415280-114415281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371351463	chr8:114415313-114415314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190843683	chr8:114415355-114415356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184077847	chr8:114415357-114415358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533393837	chr8:114415363-114415364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140666120	chr8:114415391-114415392	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
Glioblastoma multiforme	21080181	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
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
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114399800-114415000	Weak transcription	Fetal Lung	lung
2	chr8:114415000-114418400	Enhancers	Fetal Lung	lung
3	chr8:114424400-114424600	Enhancers	Fetal Lung	lung
4	chr8:114424600-114425600	Weak transcription	Fetal Lung	lung
5	chr8:114425600-114425800	Enhancers	Fetal Lung	lung
6	chr8:114430600-114430800	Enhancers	Brain Substantia Nigra	brain
7	chr8:114430800-114431000	Enhancers	Brain Anterior Caudate	brain
8	chr8:114430800-114433400	Weak transcription	Brain Substantia Nigra	brain
9	chr8:114431000-114431200	Enhancers	Brain Hippocampus Middle	brain
10	chr8:114431000-114434600	Weak transcription	Brain Anterior Caudate	brain
11	chr8:114433400-114433600	Enhancers	Brain Hippocampus Middle	brain
12	chr8:114433400-114433600	Enhancers	Brain Substantia Nigra	brain
13	chr8:114433400-114434000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:114433600-114434400	Weak transcription	Brain Substantia Nigra	brain
15	chr8:114433600-114435800	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:114433800-114434000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:114434000-114434200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:114434000-114434800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:114434000-114434800	Enhancers	Hela-S3	cervix
20	chr8:114434200-114434400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:114434400-114434800	Enhancers	Brain Substantia Nigra	brain
22	chr8:114434400-114435000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:114434400-114435200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr8:114434400-114436400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr8:114434600-114435000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:114434600-114436200	Enhancers	Brain Anterior Caudate	brain
27	chr8:114434800-114435000	Enhancers	Brain Cingulate Gyrus	brain
28	chr8:114434800-114435000	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr8:114434800-114435200	Weak transcription	Hela-S3	cervix
30	chr8:114434800-114435800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:114435000-114435400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:114435000-114435800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:114435000-114436400	Enhancers	Brain Substantia Nigra	brain
34	chr8:114435200-114435600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr8:114435200-114436400	Enhancers	Hela-S3	cervix
36	chr8:114435400-114436200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr8:114435600-114435800	Enhancers	Brain Cingulate Gyrus	brain
38	chr8:114435600-114436000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr8:114435600-114436000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr8:114435600-114436000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:114435600-114436400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr8:114435800-114436000	Enhancers	Brain Hippocampus Middle	brain
43	chr8:114435800-114436200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr8:114435800-114437000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr8:114435800-114438000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:114436200-114436600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:114436200-114442200	Weak transcription	Brain Anterior Caudate	brain

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