Variant report

Variant	nsv971306
Chromosome Location	chr8:48454066-48460805
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr8:48456323-48456522	K562	blood:	n/a	n/a
2	CBX3	chr8:48458025-48458261	K562	blood:	n/a	n/a
3	CEBPB	chr8:48454297-48454687	MCF-7	breast:	n/a	n/a
4	CEBPB	chr8:48454316-48454852	MCF-7	breast:	n/a	chr8:48454806-48454819
5	E2F4	chr8:48457300-48457425	MCF10A-Er-Src	breast:	n/a	n/a
6	EBF1	chr8:48454685-48455014	GM12878	blood:	n/a	n/a
7	EBF1	chr8:48454711-48454962	GM12878	blood:	n/a	n/a
8	EBF1	chr8:48454718-48455010	GM12878	blood:	n/a	n/a
9	EP300	chr8:48454294-48454880	T-47D	breast:	n/a	chr8:48454733-48454747 chr8:48454723-48454737 chr8:48454729-48454743
10	EP300	chr8:48456357-48456642	K562	blood:	n/a	n/a
11	FOS	chr8:48459696-48459781	MCF10A-Er-Src	breast:	n/a	n/a
12	FOXA1	chr8:48454336-48454697	T-47D	breast:	n/a	n/a
13	FOXA1	chr8:48454309-48454772	T-47D	breast:	n/a	n/a
14	GATA3	chr8:48454305-48455445	MCF-7	breast:	n/a	n/a
15	GATA3	chr8:48454469-48455116	MCF-7	breast:	n/a	n/a
16	GATA3	chr8:48454249-48455318	MCF-7	breast:	n/a	n/a
17	GATA3	chr8:48454278-48455139	T-47D	breast:	n/a	n/a
18	GATA3	chr8:48454297-48455165	T-47D	breast:	n/a	n/a
19	JUN	chr8:48456138-48456598	K562	blood:	n/a	n/a
20	JUND	chr8:48456286-48456658	K562	blood:	n/a	n/a
21	JUND	chr8:48454410-48454882	T-47D	breast:	n/a	chr8:48454798-48454808 chr8:48454798-48454808 chr8:48454725-48454734
22	JUND	chr8:48459660-48459753	HepG2	liver:	n/a	chr8:48459727-48459738
23	MAFK	chr8:48456432-48456577	K562	blood:	n/a	n/a
24	NR3C1	chr8:48459526-48459934	A549	lung:	n/a	n/a
25	POLR2A	chr8:48454942-48454968	MCF-7	breast:	n/a	n/a
26	POLR2A	chr8:48454982-48455006	MCF-7	breast:	n/a	n/a
27	RCOR1	chr8:48456266-48456605	K562	blood:	n/a	n/a
28	REST	chr8:48456406-48456613	K562	blood:	n/a	n/a
29	RUNX3	chr8:48454700-48455037	GM12878	blood:	n/a	n/a
30	RUNX3	chr8:48454667-48455062	GM12878	blood:	n/a	n/a
31	SIN3AK20	chr8:48454204-48454990	MCF-7	breast:	n/a	n/a
32	STAT3	chr8:48455968-48456053	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr8:48458401-48458541	MCF10A-Er-Src	breast:	n/a	n/a
34	TAL1	chr8:48456443-48456448	K562	blood:	n/a	n/a
35	TCF7L2	chr8:48454811-48455276	MCF-7	breast:	n/a	n/a
36	TEAD4	chr8:48456261-48456627	K562	blood:	n/a	n/a
37	WRNIP1	chr8:48454879-48455016	GM12878	blood:	n/a	n/a
38	ZNF217	chr8:48454497-48455172	MCF-7	breast:	n/a	n/a
39	ZNF384	chr8:48454543-48454890	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:48435895..48437509-chr8:48455733..48457442,2	MCF-7	breast:
2	chr8:48453211..48456325-chr8:48648153..48651831,4	MCF-7	breast:
3	chr8:48455185..48457892-chr8:48651011..48653495,2	K562	blood:
4	chr8:48456575..48460862-chr8:48649112..48652176,5	MCF-7	breast:
5	chr8:48424729..48427909-chr8:48454789..48458165,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CEBPD-3	chr8:48460313-48460488	NONHSAT126450
2	lnc-CEBPD-3	chr8:48459366-48459968	NONHSAT126450

No data

Variant related genes	Relation type
ENSG00000251354	TF binding region
ENSG00000221869	chromatin interactions

Extended variants
information (count: 240 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11778426	chr8:48454073-48454074	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs538007432	chr8:48454139-48454140	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556104849	chr8:48454182-48454183	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs568494530	chr8:48454206-48454207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536682423	chr8:48454245-48454246	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs535586659	chr8:48454303-48454304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs112516763	chr8:48454328-48454329	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs139217708	chr8:48454358-48454359	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs149977974	chr8:48454386-48454387	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191586879	chr8:48454418-48454419	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369004806	chr8:48454439-48454440	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs183792826	chr8:48454440-48454441	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576679809	chr8:48454450-48454451	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs543967847	chr8:48454474-48454475	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562148933	chr8:48454490-48454491	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574436109	chr8:48454574-48454575	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs188110176	chr8:48454601-48454602	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs559841405	chr8:48454611-48454612	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs145220653	chr8:48454624-48454625	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs13274850	chr8:48454667-48454668	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs13274851	chr8:48454668-48454669	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs551768100	chr8:48454695-48454696	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs1542721	chr8:48454711-48454712	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs13261022	chr8:48454717-48454718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs370804796	chr8:48454732-48454733	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs531509576	chr8:48454735-48454736	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs75657132	chr8:48454746-48454747	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs56074927	chr8:48454747-48454748	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs539339047	chr8:48454903-48454904	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs374183391	chr8:48454907-48454908	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs558949337	chr8:48454911-48454912	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549907914	chr8:48454914-48454915	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs535253983	chr8:48454945-48454946	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549176023	chr8:48455078-48455079	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs142422702	chr8:48455085-48455086	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535685908	chr8:48455086-48455087	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs144731548	chr8:48455140-48455141	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs147918239	chr8:48455158-48455159	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs376796004	chr8:48455217-48455218	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs539808806	chr8:48455271-48455272	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181892465	chr8:48455280-48455281	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs576632619	chr8:48455284-48455285	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs537356041	chr8:48455344-48455345	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556067254	chr8:48455370-48455371	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs574151041	chr8:48455386-48455387	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs117861022	chr8:48455392-48455393	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs185450748	chr8:48455468-48455469	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571827284	chr8:48455475-48455476	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs563089341	chr8:48455479-48455480	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs573386433	chr8:48455499-48455500	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48434000-48455400	Weak transcription	Primary T cells from cord blood	blood
2	chr8:48439800-48455400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:48442600-48454400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:48442800-48456000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:48447200-48466200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:48452200-48454400	Enhancers	Placenta	Placenta
7	chr8:48452400-48454200	Enhancers	Osteobl	bone
8	chr8:48452600-48454200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr8:48452600-48466200	Weak transcription	Aorta	Aorta
10	chr8:48452600-48466400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:48452800-48454200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr8:48453200-48457000	Weak transcription	Liver	Liver
13	chr8:48453200-48460400	Weak transcription	NHLF	lung
14	chr8:48453200-48466600	Weak transcription	Ovary	ovary
15	chr8:48453400-48456200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:48453400-48456200	Weak transcription	NHDF-Ad	bronchial
17	chr8:48453600-48459600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:48454200-48454400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr8:48454200-48454600	Enhancers	GM12878-XiMat	blood
20	chr8:48454200-48455200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr8:48454400-48454600	Enhancers	Duodenum Mucosa	Duodenum
22	chr8:48454400-48455000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:48454400-48455000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr8:48454400-48455400	Weak transcription	Placenta	Placenta
25	chr8:48454400-48456800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:48454600-48454800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:48454600-48455200	Flanking Active TSS	GM12878-XiMat	blood
28	chr8:48454800-48455000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:48454800-48455000	Enhancers	NHEK	skin
30	chr8:48455000-48455400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr8:48455000-48456200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr8:48455200-48455400	Enhancers	GM12878-XiMat	blood
33	chr8:48455400-48455800	ZNF genes & repeats	Primary T cells from cord blood	blood
34	chr8:48455400-48456000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:48455400-48456800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
36	chr8:48455400-48456800	Enhancers	Placenta	Placenta
37	chr8:48455800-48459400	Weak transcription	Primary T cells from cord blood	blood
38	chr8:48455800-48459400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr8:48456000-48456200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
40	chr8:48456000-48457200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:48456000-48457400	Enhancers	K562	blood
42	chr8:48456200-48456400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:48456200-48456400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr8:48456200-48456800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:48456200-48456800	Enhancers	NHDF-Ad	bronchial
46	chr8:48456200-48458400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:48456400-48457200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:48456400-48457800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
49	chr8:48456800-48459400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr8:48456800-48467000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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