Variant report

Variant	nsv599490
Chromosome Location	chr5:117118798-117241490
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	BACH1	chr5:117188782-117188783	K562	blood:	n/a	n/a
2	BRCA1	chr5:117192690-117192791	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr5:117225271-117225273	GM12878	blood:	n/a	n/a
4	CCNT2	chr5:117173830-117173997	K562	blood:	n/a	n/a
5	CEBPB	chr5:117122720-117122726	K562	blood:	n/a	n/a
6	CEBPB	chr5:117172347-117172719	IMR90	lung:	n/a	chr5:117172536-117172547
7	CEBPB	chr5:117172354-117172704	A549	lung:	n/a	chr5:117172536-117172547
8	CEBPB	chr5:117172423-117172650	H1-hESC	embryonic stem cell:	n/a	chr5:117172536-117172547
9	CEBPB	chr5:117168507-117168774	A549	lung:	n/a	chr5:117168641-117168652
10	CEBPB	chr5:117168511-117168821	IMR90	lung:	n/a	chr5:117168641-117168652
11	CEBPB	chr5:117172935-117173233	HepG2	liver:	n/a	chr5:117173066-117173079 chr5:117173067-117173078
12	CEBPB	chr5:117172356-117172719	HepG2	liver:	n/a	chr5:117172536-117172547
13	CEBPB	chr5:117139138-117139638	IMR90	lung:	n/a	n/a
14	CEBPB	chr5:117168502-117168804	HepG2	liver:	n/a	chr5:117168641-117168652
15	CEBPB	chr5:117238164-117238250	A549	lung:	n/a	n/a
16	CEBPB	chr5:117228871-117229261	IMR90	lung:	n/a	n/a
17	CEBPB	chr5:117225285-117225673	IMR90	lung:	n/a	n/a
18	CTCF	chr5:117124380-117124530	WERI-Rb-1	eye:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
19	CTCF	chr5:117124300-117124450	MCF-7	breast:	n/a	n/a
20	CTCF	chr5:117124400-117124550	HRPEpiC	eye:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
21	CTCF	chr5:117124300-117124450	RPTEC	kidney:	n/a	n/a
22	CTCF	chr5:117123767-117123833	GM13976	blood:	n/a	n/a
23	CTCF	chr5:117124440-117124590	HRE	kidney:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
24	CTCF	chr5:117124300-117124450	NHDF-neo	bronchial:	n/a	n/a
25	CTCF	chr5:117124360-117124510	HCPEpiC	choroid plexus:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
26	CTCF	chr5:117124420-117124570	RPTEC	kidney:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
27	CTCF	chr5:117124405-117124540	LNCaP	prostate:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
28	CTCF	chr5:117124217-117124730	MCF-7	breast:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
29	CTCF	chr5:117124380-117124530	HPAF	blood vessel:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
30	CTCF	chr5:117219393-117219493	GM20000	blood:	n/a	n/a
31	CTCF	chr5:117124460-117124610	AG09309	skin:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
32	CTCF	chr5:117158477-117158527	GM10248	blood:	n/a	n/a
33	CTCF	chr5:117124380-117124530	AG09319	gingival:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
34	CTCF	chr5:117124393-117124550	MCF-7	breast:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
35	CTCF	chr5:117124360-117124510	NHEK	skin:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
36	CTCF	chr5:117124326-117124647	IMR90	lung:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
37	CTCF	chr5:117124420-117124570	AG04449	skin:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
38	CTCF	chr5:117124432-117124541	Medullo	brain:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
39	CTCF	chr5:117124365-117124750	HCT-116	colon:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
40	CTCF	chr5:117124401-117124562	LNCaP	prostate:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
41	CTCF	chr5:117124400-117124550	Caco-2	colon:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
42	CTCF	chr5:117124358-117124580	MCF-7	breast:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
43	CTCF	chr5:117124440-117124590	BJ	skin:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
44	CTCF	chr5:117124340-117124490	AG09319	gingival:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
45	CTCF	chr5:117124380-117124530	BJ	skin:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
46	CTCF	chr5:117124400-117124550	HFF	foreskin:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
47	CTCF	chr5:117165720-117165870	WERI-Rb-1	eye:	n/a	n/a
48	CTCF	chr5:117124360-117124510	HPAF	blood vessel:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
49	CTCF	chr5:117124439-117124487	ProgFib	skin:	n/a	chr5:117124461-117124482 chr5:117124466-117124484
50	CTCF	chr5:117124478-117124500	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:117125890..117127438-chr5:117130783..117133189,2	MCF-7	breast:
2	chr5:117125890..117127438-chr5:117130783..117133189,2	MCF-7	breast:
3	chr5:117201656..117203414-chr5:117208664..117210271,2	MCF-7	breast:
4	chr5:117149206..117151782-chr5:117152643..117155518,2	MCF-7	breast:
5	chr5:117112749..117115394-chr5:117119190..117122198,3	K562	blood:
6	chr5:117201656..117203414-chr5:117208664..117210271,2	MCF-7	breast:
7	chr5:117149206..117151782-chr5:117152643..117155518,2	MCF-7	breast:

Variant related genes	Relation type
RPL7L1P4	TF binding region
ENSG00000249582	chromatin interactions

Extended variants
information (count: 1551 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1551 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368040821	chr5:117119238-117119239	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs551808453	chr5:117119246-117119247	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184148208	chr5:117119266-117119267	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs148017444	chr5:117119295-117119296	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs188113842	chr5:117119298-117119299	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141692676	chr5:117119323-117119324	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs372672379	chr5:117119350-117119351	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs4607383	chr5:117119421-117119422	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs575006868	chr5:117119429-117119430	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs77883279	chr5:117119438-117119439	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs114133569	chr5:117119492-117119493	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs374516470	chr5:117119494-117119495	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs76845719	chr5:117119499-117119500	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs138531482	chr5:117119542-117119543	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs115757921	chr5:117119546-117119547	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs116144777	chr5:117119549-117119550	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs57277132	chr5:117119579-117119580	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs563029696	chr5:117119585-117119586	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs372275554	chr5:117119591-117119592	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs531858005	chr5:117119599-117119600	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551884395	chr5:117119615-117119616	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs191416509	chr5:117119647-117119648	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs114351074	chr5:117119801-117119802	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs141479757	chr5:117119831-117119832	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566659463	chr5:117119933-117119934	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs184622825	chr5:117119958-117119959	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs115057384	chr5:117119969-117119970	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs10463459	chr5:117119970-117119971	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs537575819	chr5:117119979-117119980	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs557414397	chr5:117119999-117120000	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs73787561	chr5:117120067-117120068	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs181664023	chr5:117120097-117120098	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs553680392	chr5:117120150-117120151	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs568580308	chr5:117120159-117120160	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs543270715	chr5:117120188-117120189	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs185212513	chr5:117120212-117120213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs576694768	chr5:117120250-117120251	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs545560408	chr5:117120259-117120260	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs146286447	chr5:117120277-117120278	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs527739872	chr5:117120308-117120309	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs547486271	chr5:117120311-117120312	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189673419	chr5:117120327-117120328	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs529199105	chr5:117120331-117120332	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111606667	chr5:117120375-117120376	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs548841336	chr5:117120403-117120404	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs181277006	chr5:117120410-117120411	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs537638053	chr5:117120423-117120424	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs185869065	chr5:117120443-117120444	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs6863742	chr5:117120444-117120445	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs529837498	chr5:117120453-117120454	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:200 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117122400-117123000	Enhancers	Fetal Lung	lung
2	chr5:117127800-117128200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:117127800-117128200	Enhancers	Fetal Intestine Small	intestine
4	chr5:117128200-117129400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:117129200-117130000	Active TSS	Ovary	ovary
6	chr5:117129400-117129600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:117129400-117129600	Active TSS	Brain Angular Gyrus	brain
8	chr5:117129400-117129600	Enhancers	Brain Hippocampus Middle	brain
9	chr5:117129400-117129600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:117129400-117129800	Enhancers	Fetal Brain Female	brain
11	chr5:117129400-117130000	Active TSS	Brain Cingulate Gyrus	brain
12	chr5:117129400-117130200	Active TSS	Brain Anterior Caudate	brain
13	chr5:117129400-117130200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr5:117129400-117130400	Enhancers	Brain Germinal Matrix	brain
15	chr5:117129400-117130400	Enhancers	Brain Substantia Nigra	brain
16	chr5:117129600-117129800	Flanking Active TSS	Brain Angular Gyrus	brain
17	chr5:117129600-117130000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:117129600-117130000	Active TSS	Right Atrium	heart
19	chr5:117129600-117130200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:117129600-117130200	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr5:117129800-117130000	Active TSS	Brain Angular Gyrus	brain
22	chr5:117130000-117130400	Enhancers	Brain Angular Gyrus	brain
23	chr5:117130200-117130400	Enhancers	Brain Hippocampus Middle	brain
24	chr5:117130200-117131200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:117131200-117136000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:117132600-117133000	Enhancers	Fetal Intestine Large	intestine
27	chr5:117136000-117136400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:117136000-117136400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:117136000-117136400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:117136200-117136600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr5:117136400-117137800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:117136600-117138800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr5:117137800-117138200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:117138800-117139200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr5:117140400-117141200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr5:117140600-117141200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr5:117140600-117141200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr5:117140800-117141000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr5:117141000-117141400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr5:117144800-117145400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:117144800-117145600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:117145400-117145600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:117148400-117149200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:117165000-117165400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr5:117165000-117165800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:117165000-117166000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr5:117165200-117165800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:117165200-117166000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr5:117165200-117166000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:117165200-117166000	Enhancers	Spleen	Spleen

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