Variant report

Variant	nsv1029821
Chromosome Location	chr5:89209712-89236960
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	ATF2	chr5:89226379-89227022	GM12878	blood:	n/a	n/a
2	ATF2	chr5:89226323-89227058	GM12878	blood:	n/a	n/a
3	BATF	chr5:89226536-89226955	GM12878	blood:	n/a	chr5:89226765-89226776 chr5:89226912-89226921 chr5:89226732-89226742 chr5:89226731-89226742
4	BATF	chr5:89226607-89226881	GM12878	blood:	n/a	chr5:89226765-89226776 chr5:89226732-89226742 chr5:89226731-89226742
5	BCL11A	chr5:89226539-89226981	GM12878	blood:	n/a	n/a
6	BCLAF1	chr5:89226488-89227032	GM12878	blood:	n/a	n/a
7	BHLHE40	chr5:89230036-89230167	GM12878	blood:	n/a	n/a
8	BHLHE40	chr5:89226311-89227141	GM12878	blood:	n/a	n/a
9	CBX3	chr5:89226545-89226994	HCT-116	colon:	n/a	chr5:89226747-89226758
10	CEBPB	chr5:89225700-89225947	ECC-1	luminal epithelium:	n/a	n/a
11	CEBPB	chr5:89225667-89226034	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr5:89225649-89225961	ECC-1	luminal epithelium:	n/a	n/a
13	CEBPB	chr5:89225695-89225997	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr5:89226490-89226879	GM12878	blood:	n/a	n/a
15	CREB1	chr5:89226473-89227068	GM12878	blood:	n/a	n/a
16	CTCF	chr5:89225120-89225270	HBMEC	blood vessel:	n/a	chr5:89225182-89225203
17	CTCF	chr5:89225085-89225281	H1-hESC	embryonic stem cell:	n/a	chr5:89225182-89225203
18	CTCF	chr5:89225080-89225230	GM12874	blood:	n/a	chr5:89225182-89225203
19	CTCF	chr5:89225111-89225259	MCF-7	breast:	n/a	chr5:89225182-89225203
20	CTCF	chr5:89225120-89225270	GM12875	blood:	n/a	chr5:89225182-89225203
21	CTCF	chr5:89225080-89225230	GM12873	blood:	n/a	chr5:89225182-89225203
22	CTCF	chr5:89226720-89226870	NHDF-neo	bronchial:	n/a	n/a
23	CTCF	chr5:89225094-89225266	GM19240	blood:	n/a	chr5:89225182-89225203
24	CTCF	chr5:89225129-89225230	Hela-S3	cervix:	n/a	chr5:89225182-89225203
25	CTCF	chr5:89225115-89225249	GM12891	blood:	n/a	chr5:89225182-89225203
26	CTCF	chr5:89225100-89225250	HBMEC	blood vessel:	n/a	chr5:89225182-89225203
27	CTCF	chr5:89225164-89225220	LNCaP	prostate:	n/a	chr5:89225182-89225203
28	CTCF	chr5:89225102-89225248	Gliobla	brain:	n/a	chr5:89225182-89225203
29	CTCF	chr5:89225100-89225250	GM12864	blood:	n/a	chr5:89225182-89225203
30	CTCF	chr5:89225100-89225250	GM12873	blood:	n/a	chr5:89225182-89225203
31	CTCF	chr5:89225100-89225250	GM12878	blood:	n/a	chr5:89225182-89225203
32	CTCF	chr5:89225113-89225248	MCF-7	breast:	n/a	chr5:89225182-89225203
33	CTCF	chr5:89213705-89213725	GM19240	blood:	n/a	n/a
34	CTCF	chr5:89225105-89225267	GM12878	blood:	n/a	chr5:89225182-89225203
35	CTCF	chr5:89225100-89225250	HPAF	blood vessel:	n/a	chr5:89225182-89225203
36	CTCF	chr5:89225140-89225290	GM12873	blood:	n/a	chr5:89225182-89225203
37	CTCF	chr5:89225120-89225270	HPAF	blood vessel:	n/a	chr5:89225182-89225203
38	CTCF	chr5:89225110-89225266	MCF-7	breast:	n/a	chr5:89225182-89225203
39	CTCF	chr5:89224984-89225473	HCT-116	colon:	n/a	chr5:89225182-89225203
40	CTCF	chr5:89213663-89213758	GM19239	blood:	n/a	n/a
41	CTCF	chr5:89225120-89225235	SK-N-SH_RA	brain:	n/a	chr5:89225182-89225203
42	CTCF	chr5:89225120-89225270	K562	blood:	n/a	chr5:89225182-89225203
43	CTCF	chr5:89225060-89225210	SK-N-SH_RA	brain:	n/a	chr5:89225182-89225203
44	CTCF	chr5:89225126-89225235	GM12892	blood:	n/a	chr5:89225182-89225203
45	CTCF	chr5:89223446-89223516	Kidney_OC	kidney:	n/a	n/a
46	CTCF	chr5:89225140-89225290	GM12872	blood:	n/a	chr5:89225182-89225203
47	CTCF	chr5:89213669-89213782	K562	blood:	n/a	n/a
48	CTCF	chr5:89225094-89225269	GM19238	blood:	n/a	chr5:89225182-89225203
49	CTCF	chr5:89225118-89225242	K562	blood:	n/a	chr5:89225182-89225203
50	CTCF	chr5:89225135-89225221	GM10266	blood:	n/a	chr5:89225182-89225203

No.	Distal block	Cell Line	Cell type
1	chr5:89224814..89226783-chr5:89227917..89229826,2	MCF-7	breast:
2	chr5:89224814..89226783-chr5:89227917..89229826,2	MCF-7	breast:
3	chr5:89212202..89212883-chr7:91671131..91671835,2	MCF-7	breast:
4	chr5:89209371..89210914-chr5:89213217..89215446,2	K562	blood:
5	chr5:89225139..89225642-chr5:89457055..89457700,2	MCF-7	breast:
6	chr5:89209371..89210914-chr5:89213217..89215446,2	K562	blood:

Variant related genes	Relation type
ENSG00000249265	TF binding region

Extended variants
information (count: 336 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113262478	chr5:89215846-89215847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544705409	chr5:89215935-89215936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538099749	chr5:89215999-89216000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557817596	chr5:89216015-89216016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142966055	chr5:89216122-89216123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552376061	chr5:89216141-89216142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568591471	chr5:89216187-89216188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372876654	chr5:89216213-89216214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10942580	chr5:89216233-89216234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs139028768	chr5:89216234-89216235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141611605	chr5:89216381-89216382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116401451	chr5:89216386-89216387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191676910	chr5:89216404-89216405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150519051	chr5:89216412-89216413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75768428	chr5:89216465-89216466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527864243	chr5:89216478-89216479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547555962	chr5:89216542-89216543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77796973	chr5:89216582-89216583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553990600	chr5:89216602-89216603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112577905	chr5:89216636-89216637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113943447	chr5:89216641-89216642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199833300	chr5:89216642-89216643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548671608	chr5:89216649-89216650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376019484	chr5:89216746-89216747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183137396	chr5:89216748-89216749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537487564	chr5:89216787-89216788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186384776	chr5:89216863-89216864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556012856	chr5:89216894-89216895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74859749	chr5:89216899-89216900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534104272	chr5:89216929-89216930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34839074	chr5:89217019-89217020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370849002	chr5:89217029-89217030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556418331	chr5:89217062-89217063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553967013	chr5:89217077-89217078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573881991	chr5:89217086-89217087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374498288	chr5:89217186-89217187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112845265	chr5:89217198-89217199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368747938	chr5:89217257-89217258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556419779	chr5:89217260-89217261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576369584	chr5:89217271-89217272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545100362	chr5:89217279-89217280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115861197	chr5:89217315-89217316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572616118	chr5:89217377-89217378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190853151	chr5:89217385-89217386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554771491	chr5:89217459-89217460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561100409	chr5:89217503-89217504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530277491	chr5:89217535-89217536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73180777	chr5:89217611-89217612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560000414	chr5:89217614-89217615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147403098	chr5:89217644-89217645	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Colorectal cancer	16774939	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89215800-89216400	Weak transcription	Psoas Muscle	Psoas
2	chr5:89216400-89216600	Enhancers	Psoas Muscle	Psoas
3	chr5:89216400-89219200	Enhancers	Fetal Brain Male	brain
4	chr5:89216600-89216800	Weak transcription	Psoas Muscle	Psoas
5	chr5:89220000-89220400	Enhancers	Left Ventricle	heart
6	chr5:89224400-89224800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:89224400-89225200	Enhancers	Primary B cells from peripheral blood	blood
8	chr5:89224400-89226200	Enhancers	GM12878-XiMat	blood
9	chr5:89224600-89227200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:89224800-89225200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:89224800-89227400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:89225200-89226200	Enhancers	HUVEC	blood vessel
13	chr5:89225200-89230200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:89225600-89226200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:89225600-89226200	Enhancers	NHDF-Ad	bronchial
16	chr5:89225600-89226400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:89225600-89226400	Enhancers	HMEC	breast
18	chr5:89225600-89229800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:89225800-89226000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:89225800-89226400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:89225800-89226800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:89225800-89226800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:89225800-89226800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr5:89225800-89226800	Enhancers	Rectal Smooth Muscle	rectum
25	chr5:89225800-89227000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr5:89225800-89227200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:89225800-89227200	Enhancers	NH-A	brain
28	chr5:89225800-89229200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:89226000-89226200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:89226000-89226200	Enhancers	Fetal Heart	heart
31	chr5:89226000-89226800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr5:89226000-89227000	Enhancers	NHLF	lung
33	chr5:89226000-89227200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr5:89226000-89227200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:89226000-89227200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:89226000-89227200	Enhancers	NHEK	skin
37	chr5:89226200-89226400	Flanking Active TSS	NHDF-Ad	bronchial
38	chr5:89226200-89226400	Enhancers	Osteobl	bone
39	chr5:89226200-89226600	Flanking Active TSS	Fetal Heart	heart
40	chr5:89226200-89226800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:89226200-89226800	Enhancers	Colon Smooth Muscle	Colon
42	chr5:89226200-89227000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr5:89226200-89227000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:89226200-89227000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:89226200-89227000	Flanking Active TSS	HUVEC	blood vessel
46	chr5:89226200-89227200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr5:89226200-89227200	Flanking Active TSS	GM12878-XiMat	blood
48	chr5:89226200-89227200	Enhancers	HSMMtube	muscle
49	chr5:89226200-89227400	Enhancers	HSMM	muscle
50	chr5:89226200-89229000	Enhancers	HUES48 Cell Line	embryonic stem cell

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