Variant report

Variant	nsv981930
Chromosome Location	chr8:39717117-39717950
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	FOS	chr8:39717213-39717670	MCF10A-Er-Src	breast:	n/a	chr8:39717398-39717409 chr8:39717373-39717384 chr8:39717400-39717409
2	FOS	chr8:39717181-39717698	MCF10A-Er-Src	breast:	n/a	chr8:39717398-39717409 chr8:39717373-39717384 chr8:39717400-39717409
3	FOS	chr8:39717216-39717652	MCF10A-Er-Src	breast:	n/a	chr8:39717398-39717409 chr8:39717373-39717384 chr8:39717400-39717409
4	FOS	chr8:39717166-39717622	HUVEC	blood vessel:	n/a	chr8:39717398-39717409 chr8:39717373-39717384 chr8:39717400-39717409
5	FOS	chr8:39717221-39717790	MCF10A-Er-Src	breast:	n/a	chr8:39717398-39717409 chr8:39717373-39717384 chr8:39717400-39717409
6	FOSL1	chr8:39717207-39717600	HCT-116	colon:	n/a	chr8:39717400-39717409
7	FOSL1	chr8:39717188-39717664	HCT-116	colon:	n/a	chr8:39717400-39717409
8	FOSL2	chr8:39717274-39717667	SK-N-SH	brain:	n/a	chr8:39717400-39717409
9	JUN	chr8:39717231-39717600	HUVEC	blood vessel:	n/a	chr8:39717400-39717409
10	JUND	chr8:39717232-39717646	SK-N-SH	brain:	n/a	chr8:39717400-39717409
11	JUND	chr8:39717170-39717628	Hela-S3	cervix:	n/a	chr8:39717400-39717409
12	JUND	chr8:39717191-39717724	HCT-116	colon:	n/a	chr8:39717400-39717409
13	MYC	chr8:39717275-39717652	MCF10A-Er-Src	breast:	n/a	chr8:39717399-39717408
14	MYC	chr8:39717241-39717645	MCF10A-Er-Src	breast:	n/a	chr8:39717399-39717408
15	STAT3	chr8:39717201-39717618	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr8:39717261-39717638	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr8:39717301-39717650	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr8:39717266-39717576	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IDO1-1	chr8:39717738-39718044	NONHSAT126184

Variant related genes	Relation type
ENSG00000253332	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564987276	chr8:39717127-39717128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189636072	chr8:39717131-39717132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540977283	chr8:39717229-39717230	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs561066358	chr8:39717230-39717231	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs530104064	chr8:39717298-39717299	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs550382375	chr8:39717344-39717345	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs182318492	chr8:39717356-39717357	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs374602339	chr8:39717470-39717471	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs186712697	chr8:39717481-39717482	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs146515047	chr8:39717511-39717512	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs536522666	chr8:39717538-39717539	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs566336235	chr8:39717554-39717555	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs191569489	chr8:39717561-39717562	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs375866120	chr8:39717625-39717626	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs11994361	chr8:39717653-39717654	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs118061669	chr8:39717654-39717655	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs556353863	chr8:39717682-39717683	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs576156996	chr8:39717711-39717712	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs79974060	chr8:39717724-39717725	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs558429372	chr8:39717725-39717726	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs140825787	chr8:39717739-39717740	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs112446678	chr8:39717744-39717745	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs143186852	chr8:39717749-39717750	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs76425707	chr8:39717773-39717774	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs184783750	chr8:39717774-39717775	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs563947266	chr8:39717781-39717782	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs532607046	chr8:39717795-39717796	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs145441501	chr8:39717800-39717801	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs560111840	chr8:39717820-39717821	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs373976283	chr8:39717855-39717856	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs547453460	chr8:39717856-39717857	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs567132108	chr8:39717903-39717904	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs536396651	chr8:39717914-39717915	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs562917411	chr8:39717948-39717949	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Breast cancer	16620391	CNVD
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Medulloblastoma	19270706	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39704800-39717800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:39707400-39717400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:39715200-39717600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:39717000-39717400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:39717000-39717800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:39717000-39717800	Enhancers	HSMM	muscle
7	chr8:39717000-39720800	Enhancers	HUVEC	blood vessel
8	chr8:39717400-39717800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr8:39717400-39718000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:39717400-39718000	Enhancers	NH-A	brain
11	chr8:39717600-39718000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:39717600-39718000	Enhancers	Placenta	Placenta
13	chr8:39717600-39718000	Enhancers	HMEC	breast
14	chr8:39717600-39718000	Enhancers	NHLF	lung
15	chr8:39717800-39718000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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