Variant report

Variant	nsv969244
Chromosome Location	chr5:115357547-115362648
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr5:115362354-115362487	K562	blood:	n/a	n/a
2	CTCF	chr5:115359480-115359630	HPF	lung:	n/a	n/a
3	CTCF	chr5:115359520-115359670	HVMF	connective:	n/a	n/a
4	CTCF	chr5:115359460-115359610	HVMF	connective:	n/a	n/a
5	CTCF	chr5:115359400-115359550	AG09309	skin:	n/a	n/a
6	CTCF	chr5:115359420-115359570	AG10803	skin:	n/a	n/a
7	CTCF	chr5:115359380-115359530	HPAF	blood vessel:	n/a	n/a
8	CTCF	chr5:115359380-115359530	AG04450	lung:	n/a	n/a
9	CTCF	chr5:115359360-115359510	HFF	foreskin:	n/a	n/a
10	CTCF	chr5:115359400-115359550	A549	lung:	n/a	n/a
11	CTCF	chr5:115359340-115359490	WI-38	lung:	n/a	n/a
12	CTCF	chr5:115359440-115359590	AG10803	skin:	n/a	n/a
13	CTCF	chr5:115359460-115359610	HPF	lung:	n/a	n/a
14	CTCF	chr5:115359420-115359570	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr5:115359380-115359530	HMEC	breast:	n/a	n/a
16	CTCF	chr5:115359480-115359630	NHDF-neo	bronchial:	n/a	n/a
17	CTCF	chr5:115359420-115359570	HEK293	kidney:	n/a	n/a
18	CTCF	chr5:115358220-115358370	NHEK	skin:	n/a	n/a
19	CTCF	chr5:115359480-115359630	Caco-2	colon:	n/a	n/a
20	CTCF	chr5:115359320-115359470	BE2_C	brain:	n/a	n/a
21	CTCF	chr5:115359460-115359610	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr5:115359420-115359570	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr5:115359340-115359490	NHLF	lung:	n/a	n/a
24	CTCF	chr5:115359540-115359690	HAc	cerebellar:	n/a	n/a
25	CTCF	chr5:115359420-115359570	HCT-116	colon:	n/a	n/a
26	CTCF	chr5:115359480-115359630	AoAF	blood vessel:	n/a	n/a
27	CTCF	chr5:115359480-115359630	AG04450	lung:	n/a	n/a
28	CTCF	chr5:115359400-115359550	AG09319	gingival:	n/a	n/a
29	CTCF	chr5:115359440-115359590	AG09319	gingival:	n/a	n/a
30	CTCF	chr5:115359400-115359550	AG04449	skin:	n/a	n/a
31	CTCF	chr5:115359380-115359530	HCFaa	heart:	n/a	n/a
32	CTCF	chr5:115359400-115359550	HRE	kidney:	n/a	n/a
33	CTCF	chr5:115359560-115359710	HFF	foreskin:	n/a	n/a
34	CTCF	chr5:115359380-115359530	HCM	heart:	n/a	n/a
35	CTCF	chr5:115359420-115359570	HEEpiC	esophagus:	n/a	n/a
36	CTCF	chr5:115359480-115359630	MCF-7	breast:	n/a	n/a
37	CTCF	chr5:115359400-115359550	NHEK	skin:	n/a	n/a
38	CTCF	chr5:115359480-115359630	HMEC	breast:	n/a	n/a
39	CTCF	chr5:115359460-115359610	AoAF	blood vessel:	n/a	n/a
40	CTCF	chr5:115359380-115359530	HA-sp	spinal cord:	n/a	n/a
41	CTCF	chr5:115359420-115359570	HMF	breast:	n/a	n/a
42	CTCF	chr5:115359440-115359590	BJ	skin:	n/a	n/a
43	CTCF	chr5:115359200-115359350	HPF	lung:	n/a	n/a
44	CTCF	chr5:115359400-115359550	HCM	heart:	n/a	n/a
45	CTCF	chr5:115359420-115359570	SAEC	small airway:	n/a	n/a
46	CTCF	chr5:115359380-115359530	AG04449	skin:	n/a	n/a
47	CTCF	chr5:115359360-115359510	RPTEC	kidney:	n/a	n/a
48	CTCF	chr5:115359500-115359650	HCT-116	colon:	n/a	n/a
49	CTCF	chr5:115359380-115359530	HRE	kidney:	n/a	n/a
50	CTCF	chr5:115359320-115359590	NHDF-neo	bronchial:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:115358879..115361762-chr5:115363430..115365377,2	K562	blood:
2	chr5:115357626..115360379-chr5:115363877..115366832,2	K562	blood:
3	chr5:115355525..115357381-chr5:115358877..115362646,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COMMD10-8	chr5:115361675-115363300	NONHSAT103346
2	lnc-COMMD10-8	chr5:115358088-115358163	NONHSAT103346

No data

Variant related genes	Relation type
ENSG00000172901	TF binding region
ENSG00000221778	TF binding region
ENSG00000268714	TF binding region
ENSG00000172901	chromatin interactions
ENSG00000221778	chromatin interactions

Extended variants
information (count: 240 )
Associated
traits (count: 73 )

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	rs80207868	chr5:115357553-115357554	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs77582928	chr5:115357556-115357557	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs544648043	chr5:115357557-115357558	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs564262652	chr5:115357596-115357597	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs188335025	chr5:115357617-115357618	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs140194374	chr5:115357634-115357635	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs560408574	chr5:115357656-115357657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142111561	chr5:115357657-115357658	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs61626272	chr5:115357658-115357659	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1508876	chr5:115357676-115357677	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs531832097	chr5:115357684-115357685	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs190978861	chr5:115357685-115357686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs56941436	chr5:115357693-115357694	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs546666699	chr5:115357718-115357719	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs183704151	chr5:115357792-115357793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs535701123	chr5:115357818-115357819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs79475794	chr5:115357881-115357882	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs575371093	chr5:115357898-115357899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs187644773	chr5:115357946-115357947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs557816701	chr5:115357989-115357990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs577760316	chr5:115357998-115357999	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs552508217	chr5:115358015-115358016	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs540221146	chr5:115358029-115358030	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376003907	chr5:115358055-115358056	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs370594268	chr5:115358070-115358071	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373986156	chr5:115358072-115358073	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs192137190	chr5:115358090-115358091	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs377082787	chr5:115358104-115358105	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs201401086	chr5:115358116-115358117	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs370165930	chr5:115358132-115358133	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs573951942	chr5:115358136-115358137	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs17138681	chr5:115358137-115358138	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs376252152	chr5:115358141-115358142	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs375790701	chr5:115358163-115358164	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs368460127	chr5:115358172-115358173	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs185017867	chr5:115358184-115358185	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs7714138	chr5:115358190-115358191	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs372524618	chr5:115358250-115358251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs564169043	chr5:115358276-115358277	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs13182375	chr5:115358282-115358283	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs546728084	chr5:115358289-115358290	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566416509	chr5:115358293-115358294	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs139178596	chr5:115358305-115358306	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs56745470	chr5:115358317-115358318	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs76257697	chr5:115358355-115358356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs114306825	chr5:115358359-115358360	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs117912822	chr5:115358376-115358377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577423174	chr5:115358410-115358411	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs533981282	chr5:115358422-115358423	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs150928345	chr5:115358423-115358424	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Depressive disorder	21152026	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115325200-115368000	Weak transcription	Ovary	ovary
2	chr5:115355600-115366400	Weak transcription	Aorta	Aorta
3	chr5:115355600-115367000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:115356400-115358400	Weak transcription	Adipose Nuclei	Adipose
5	chr5:115356800-115361800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr5:115358400-115363800	Strong transcription	Adipose Nuclei	Adipose
7	chr5:115361200-115362600	Enhancers	Brain Hippocampus Middle	brain
8	chr5:115361400-115362600	Enhancers	Brain Angular Gyrus	brain
9	chr5:115361400-115362600	Enhancers	Brain Anterior Caudate	brain
10	chr5:115361400-115362600	Enhancers	Brain Cingulate Gyrus	brain
11	chr5:115361400-115362800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr5:115361400-115362800	Enhancers	Brain Substantia Nigra	brain
13	chr5:115361800-115362200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr5:115362200-115373600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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