Variant report

Variant	nsv882377
Chromosome Location	chr5:91441015-91502103
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	chr5:91499487-91499515	K562	blood:	n/a	n/a
2	CEBPB	chr5:91447228-91447409	HepG2	liver:	n/a	chr5:91447279-91447290
3	CEBPB	chr5:91473794-91474071	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr5:91443013-91443909	ECC-1	luminal epithelium:	n/a	chr5:91443654-91443667 chr5:91443654-91443665
5	CEBPB	chr5:91481417-91481681	Hela-S3	cervix:	n/a	chr5:91481506-91481517
6	CEBPB	chr5:91459586-91460009	ECC-1	luminal epithelium:	n/a	chr5:91459796-91459807
7	CEBPB	chr5:91501973-91502288	A549	lung:	n/a	chr5:91502183-91502194 chr5:91502184-91502195 chr5:91502120-91502133 chr5:91502183-91502196
8	CEBPB	chr5:91501995-91502323	HepG2	liver:	n/a	chr5:91502183-91502194 chr5:91502184-91502195 chr5:91502120-91502133 chr5:91502183-91502196
9	CEBPB	chr5:91498994-91499178	HepG2	liver:	n/a	n/a
10	CEBPB	chr5:91443525-91443711	HepG2	liver:	n/a	chr5:91443654-91443667 chr5:91443654-91443665
11	CEBPB	chr5:91442422-91442720	A549	lung:	n/a	chr5:91442542-91442551 chr5:91442542-91442553 chr5:91442542-91442551 chr5:91442542-91442551 chr5:91442542-91442551 chr5:91442540-91442551
12	CEBPB	chr5:91442373-91442726	HepG2	liver:	n/a	chr5:91442542-91442551 chr5:91442542-91442553 chr5:91442542-91442551 chr5:91442542-91442551 chr5:91442542-91442551 chr5:91442540-91442551
13	CEBPB	chr5:91501985-91502306	IMR90	lung:	n/a	chr5:91502183-91502194 chr5:91502184-91502195 chr5:91502120-91502133 chr5:91502183-91502196
14	CEBPB	chr5:91459663-91459884	HepG2	liver:	n/a	chr5:91459796-91459807
15	CEBPB	chr5:91481243-91481718	HepG2	liver:	n/a	chr5:91481506-91481517
16	CEBPB	chr5:91442418-91442681	Hela-S3	cervix:	n/a	chr5:91442542-91442551 chr5:91442542-91442553 chr5:91442542-91442551 chr5:91442542-91442551 chr5:91442542-91442551 chr5:91442540-91442551
17	CEBPB	chr5:91442409-91442715	IMR90	lung:	n/a	chr5:91442542-91442551 chr5:91442542-91442553 chr5:91442542-91442551 chr5:91442542-91442551 chr5:91442542-91442551 chr5:91442540-91442551
18	CEBPB	chr5:91502019-91502252	Hela-S3	cervix:	n/a	chr5:91502183-91502194 chr5:91502184-91502195 chr5:91502120-91502133 chr5:91502183-91502196
19	CTCF	chr5:91501231-91501258	Lung_OC	lung:	n/a	n/a
20	CTCF	chr5:91481066-91481155	K562	blood:	n/a	n/a
21	EBF1	chr5:91501854-91502095	GM12878	blood:	n/a	chr5:91501951-91501962 chr5:91501953-91501962 chr5:91501953-91501963 chr5:91501953-91501962 chr5:91501951-91501964
22	EGR1	chr5:91481069-91481171	GM12878	blood:	n/a	n/a
23	EP300	chr5:91443000-91443551	ECC-1	luminal epithelium:	n/a	chr5:91443292-91443302
24	EP300	chr5:91442710-91443992	ECC-1	luminal epithelium:	n/a	chr5:91443292-91443302
25	EP300	chr5:91477590-91477782	SK-N-SH_RA	brain:	n/a	n/a
26	EP300	chr5:91441732-91442405	ECC-1	luminal epithelium:	n/a	chr5:91442383-91442393
27	EP300	chr5:91475501-91475749	SK-N-SH_RA	brain:	n/a	n/a
28	ESR1	chr5:91442810-91443610	ECC-1	luminal epithelium:	n/a	n/a
29	ESR1	chr5:91442779-91443539	ECC-1	luminal epithelium:	n/a	n/a
30	ESR1	chr5:91443585-91443931	ECC-1	luminal epithelium:	n/a	n/a
31	ESR1	chr5:91459592-91460146	ECC-1	luminal epithelium:	n/a	n/a
32	ESR1	chr5:91459685-91460048	ECC-1	luminal epithelium:	n/a	n/a
33	ESR1	chr5:91441756-91442307	ECC-1	luminal epithelium:	n/a	n/a
34	ESR1	chr5:91443063-91443500	ECC-1	luminal epithelium:	n/a	n/a
35	ESR1	chr5:91443148-91443442	ECC-1	luminal epithelium:	n/a	n/a
36	ESR1	chr5:91459624-91460039	ECC-1	luminal epithelium:	n/a	n/a
37	ESR1	chr5:91441725-91442303	ECC-1	luminal epithelium:	n/a	n/a
38	ESR1	chr5:91442867-91443585	ECC-1	luminal epithelium:	n/a	n/a
39	ESR1	chr5:91442886-91443523	ECC-1	luminal epithelium:	n/a	n/a
40	FOXA1	chr5:91441788-91441982	T-47D	breast:	n/a	n/a
41	FOXA1	chr5:91441713-91442078	T-47D	breast:	n/a	n/a
42	FOXA2	chr5:91494478-91495132	A549	lung:	n/a	n/a
43	FOXA2	chr5:91481068-91481317	A549	lung:	n/a	n/a
44	FOXA2	chr5:91494716-91495064	A549	lung:	n/a	n/a
45	FOXM1	chr5:91442787-91443605	ECC-1	luminal epithelium:	n/a	n/a
46	GATA1	chr5:91463810-91464287	PBDEFetal	blood:	n/a	n/a
47	GATA3	chr5:91481476-91481846	MCF-7	breast:	n/a	chr5:91481617-91481625
48	GATA3	chr5:91481615-91481856	SH-SY5Y	brain:	n/a	chr5:91481617-91481625
49	GATA3	chr5:91441723-91442079	T-47D	breast:	n/a	n/a
50	GATA3	chr5:91442291-91442605	T-47D	breast:	n/a	chr5:91442471-91442481 chr5:91442452-91442469

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:91495209-91495259	HRE	kidney:	n/a
2	chr5:91495209-91495259	GM06990	blood:	n/a
3	chr5:91495209-91495259	SK-N-MC	brain:	n/a
4	chr5:91495209-91495259	AG09319	gingival:	n/a
5	chr5:91495209-91495259	HCT-116	colon:	n/a
6	chr5:91495209-91495259	HMEC	breast:	n/a
7	chr5:91495209-91495259	CMK	blood:	n/a
8	chr5:91495209-91495259	NHDF-neo	bronchial:	n/a
9	chr5:91495209-91495259	SK-N-SH_RA	brain:	n/a
10	chr5:91495209-91495259	HCF	heart:	n/a
11	chr5:91495209-91495259	HEEpiC	esophagus:	n/a
12	chr5:91495209-91495259	Jurkat	blood:	n/a
13	chr5:91495209-91495259	HCPEpiC	choroid plexus:	n/a
14	chr5:91495209-91495259	GM12891	blood:	n/a
15	chr5:91495209-91495259	HRPEpiC	eye:	n/a
16	chr5:91495209-91495259	HRCEpiC	kidney:	n/a
17	chr5:91495209-91495259	Caco-2	colon:	n/a
18	chr5:91495209-91495259	SKMC	muscle:	n/a
19	chr5:91495209-91495259	GM19239	blood:	n/a
20	chr5:91495209-91495259	NT2-D1	testis:	n/a
21	chr5:91495209-91495259	AG10803	skin:	n/a
22	chr5:91495209-91495259	K562	blood:	n/a
23	chr5:91495209-91495259	NHBE	bronchial:	n/a
24	chr5:91495209-91495259	HUVEC	blood vessel:	n/a
25	chr5:91495209-91495259	HAEpiC	amniotic membrane:	n/a
26	chr5:91495209-91495259	SK-N-SH	brain:	n/a
27	chr5:91495209-91495259	SAEC	small airway:	n/a
28	chr5:91495209-91495259	HL-60	blood:	n/a
29	chr5:91495209-91495259	NH-A	brain:	n/a
30	chr5:91495209-91495259	ProgFib	skin:	n/a
31	chr5:91495209-91495259	HEK293	kidney:	embryo
32	chr5:91495209-91495259	MCF-7	breast:	n/a
33	chr5:91495209-91495259	PANC-1	pancreas:	n/a
34	chr5:91495209-91495259	A549	lung:	n/a
35	chr5:91495209-91495259	BJ	skin:	n/a
36	chr5:91495209-91495259	NB4	blood:	n/a
37	chr5:91495209-91495259	HCM	heart:	n/a
38	chr5:91495209-91495259	ECC-1	luminal epithelium:	n/a
39	chr5:91495209-91495259	T-47D	breast:	n/a
40	chr5:91495209-91495259	H1-hESC	embryonic stem cell:	embryo
41	chr5:91495209-91495259	GM12878	blood:	n/a
42	chr5:91495209-91495259	HIPEpiC	eye:	n/a
43	chr5:91495209-91495259	AG09309	skin:	n/a
44	chr5:91495209-91495259	IMR90	lung:	fetal
45	chr5:91495209-91495259	HepG2	liver:	n/a
46	chr5:91495209-91495259	LNCaP	prostate:	n/a
47	chr5:91495209-91495259	AG04450	lung:	fetal
48	chr5:91495209-91495259	GM12892	blood:	n/a
49	chr5:91495209-91495259	HPAEpiC	pulmonary alveolar:	n/a
50	chr5:91495209-91495259	MCF10A-Er-Src	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:91471619..91474364-chr5:91474378..91476680,2	MCF-7	breast:
2	chr5:91451090..91453065-chr5:91458145..91459886,2	K562	blood:
3	chr5:91451090..91453065-chr5:91458145..91459886,2	K562	blood:
4	chr5:91471619..91474364-chr5:91474378..91476680,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR98-5	chr5:91500422-91500501	XLOC_004470
2	lnc-GPR98-5	chr5:91500422-91500501	XLOC_004470
3	lnc-GPR98-5	chr5:91495354-91495445	XLOC_004470

Variant related genes	Relation type
ENSG00000250049	TF binding region
ENSG00000250049	CpG island
C5orf41	miRNA target sites
RIMS3	miRNA target sites

Extended variants
information (count: 353 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6452983	chr5:91441015-91441016	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545314692	chr5:91441073-91441074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532078737	chr5:91441079-91441080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73133163	chr5:91441100-91441101	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs571752794	chr5:91441200-91441201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145522636	chr5:91441224-91441225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180759930	chr5:91441236-91441237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186145554	chr5:91441244-91441245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530127717	chr5:91441295-91441296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190326457	chr5:91441311-91441312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182501003	chr5:91441334-91441335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538145069	chr5:91441343-91441344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369214497	chr5:91441397-91441398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571487313	chr5:91441442-91441443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534007432	chr5:91441467-91441468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367695860	chr5:91441470-91441471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530821097	chr5:91441498-91441499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186749776	chr5:91441526-91441527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7447222	chr5:91441548-91441549	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs144100102	chr5:91441558-91441559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190663233	chr5:91441561-91441562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182923829	chr5:91441570-91441571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539862842	chr5:91441592-91441593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146485556	chr5:91441604-91441605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141147144	chr5:91441669-91441670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555040584	chr5:91441740-91441741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185286827	chr5:91441748-91441749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376965652	chr5:91441764-91441765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552283599	chr5:91441779-91441780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs386690063	chr5:91441788-91441789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143172798	chr5:91441793-91441794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79675308	chr5:91441804-91441805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs55854704	chr5:91441814-91441815	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs549964614	chr5:91441888-91441889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570045587	chr5:91441896-91441897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532519708	chr5:91441956-91441957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112294042	chr5:91441984-91441985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190202416	chr5:91441987-91441988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182441049	chr5:91441994-91441995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187969823	chr5:91442027-91442028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547619816	chr5:91442037-91442038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567303258	chr5:91442065-91442066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536355963	chr5:91442071-91442072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569037349	chr5:91442077-91442078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115843826	chr5:91442118-91442119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566688380	chr5:91442197-91442198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193089388	chr5:91442206-91442207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535627110	chr5:91442226-91442227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75927070	chr5:91442244-91442245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538279845	chr5:91442262-91442263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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	19587683	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:91440200-91442400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:91441000-91445400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:91442400-91444800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:91442800-91444200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:91443200-91443600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:91444800-91448200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:91445400-91446200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:91446200-91446600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:91448200-91448400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:91494800-91495200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr5:91494800-91495400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr5:91494800-91495400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:91494800-91495400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:91494800-91495600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr5:91494800-91496000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr5:91495000-91495400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr5:91495000-91495400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:91495000-91495600	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr5:91495200-91495800	Active TSS	HepG2	liver
20	chr5:91495400-91495600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr5:91495600-91495800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr5:91496000-91496400	Enhancers	HepG2	liver

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