Variant report

Variant	esv17068
Chromosome Location	chr5:77945123-77945900
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	CCNT2	chr5:77943698-77945144	K562	blood:	n/a	n/a
2	CHD1	chr5:77945063-77945402	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD1	chr5:77944979-77945152	GM12878	blood:	n/a	n/a
4	CHD1	chr5:77942547-77945482	IMR90	lung:	n/a	n/a
5	CHD1	chr5:77945675-77946014	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr5:77945707-77946074	H1-hESC	embryonic stem cell:	n/a	chr5:77946020-77946030
7	CREB1	chr5:77944031-77945157	A549	lung:	n/a	n/a
8	CTBP2	chr5:77945603-77946019	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr5:77945703-77945786	HepG2	liver:	n/a	n/a
10	CTCF	chr5:77945140-77945290	HAc	cerebellar:	n/a	chr5:77945178-77945196
11	CTCF	chr5:77945700-77945850	HepG2	liver:	n/a	n/a
12	CTCF	chr5:77945160-77945310	SAEC	small airway:	n/a	chr5:77945178-77945196
13	CTCF	chr5:77945160-77945310	AG09319	gingival:	n/a	chr5:77945178-77945196
14	CTCF	chr5:77945080-77945230	GM12871	blood:	n/a	chr5:77945178-77945196
15	CTCF	chr5:77945160-77945310	BJ	skin:	n/a	chr5:77945178-77945196
16	CTCF	chr5:77945180-77945330	HMF	breast:	n/a	n/a
17	CTCF	chr5:77945691-77945883	HepG2	liver:	n/a	n/a
18	CTCF	chr5:77945720-77945870	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr5:77945660-77945810	HepG2	liver:	n/a	n/a
20	CTCF	chr5:77945180-77945330	HCM	heart:	n/a	n/a
21	CTCF	chr5:77945100-77945250	NHDF-neo	bronchial:	n/a	chr5:77945178-77945196
22	CTCF	chr5:77945662-77945866	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr5:77945060-77945210	AG10803	skin:	n/a	chr5:77945178-77945196
24	CTCF	chr5:77945260-77945410	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr5:77945703-77945800	A549	lung:	n/a	n/a
26	CTCF	chr5:77945300-77945450	HPAF	blood vessel:	n/a	n/a
27	CTCF	chr5:77945060-77945210	GM12874	blood:	n/a	chr5:77945178-77945196
28	CTCF	chr5:77945120-77945270	MCF-7	breast:	n/a	chr5:77945178-77945196
29	CTCF	chr5:77945140-77945290	AG10803	skin:	n/a	chr5:77945178-77945196
30	CTCF	chr5:77945100-77945250	HCPEpiC	choroid plexus:	n/a	chr5:77945178-77945196
31	CTCF	chr5:77945140-77945290	AG09319	gingival:	n/a	chr5:77945178-77945196
32	CTCF	chr5:77945260-77945410	HEEpiC	esophagus:	n/a	n/a
33	CTCF	chr5:77945080-77945230	SK-N-SH_RA	brain:	n/a	chr5:77945178-77945196
34	CTCF	chr5:77945746-77945789	H1-hESC	embryonic stem cell:	n/a	n/a
35	E2F6	chr5:77945557-77946045	H1-hESC	embryonic stem cell:	n/a	n/a
36	ELF1	chr5:77944749-77945335	GM12878	blood:	n/a	chr5:77944790-77944802 chr5:77944902-77944911 chr5:77944897-77944909 chr5:77944883-77944895 chr5:77944991-77945000
37	ELF1	chr5:77945701-77946056	K562	blood:	n/a	chr5:77945876-77945889 chr5:77945878-77945889
38	EP300	chr5:77943658-77945161	SK-N-SH	brain:	n/a	chr5:77945054-77945063 chr5:77944072-77944081 chr5:77944064-77944080 chr5:77944274-77944290 chr5:77944066-77944075 chr5:77944901-77944910 chr5:77945041-77945057 chr5:77944891-77944907 chr5:77943941-77943957 chr5:77944077-77944093 chr5:77944066-77944082
39	GABPA	chr5:77945626-77945907	H1-hESC	embryonic stem cell:	n/a	n/a
40	GTF2F1	chr5:77945733-77945737	H1-hESC	embryonic stem cell:	n/a	n/a
41	HDAC2	chr5:77945575-77945931	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr5:77945620-77946023	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAX	chr5:77945692-77946035	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr5:77943081-77945266	HepG2	liver:	n/a	chr5:77943471-77943481
45	MAX	chr5:77943738-77945144	ECC-1	luminal epithelium:	n/a	n/a
46	MAX	chr5:77943208-77945230	A549	lung:	n/a	chr5:77943471-77943481
47	MAX	chr5:77942997-77945293	A549	lung:	n/a	chr5:77943471-77943481
48	MAZ	chr5:77945305-77945373	HepG2	liver:	n/a	n/a
49	MAZ	chr5:77943211-77945427	GM12878	blood:	n/a	chr5:77943471-77943481
50	MAZ	chr5:77943090-77946476	IMR90	lung:	n/a	chr5:77945550-77945560 chr5:77943471-77943481

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:77945219-77945269	GM19239	blood:	n/a
2	chr5:77945739-77945789	ProgFib	skin:	n/a
3	chr5:77945739-77945789	HUVEC	blood vessel:	n/a
4	chr5:77945347-77945397	PFSK-1	brain:	n/a
5	chr5:77945347-77945397	AG09309	skin:	n/a
6	chr5:77945178-77945228	Hepatocyte	liver:	n/a
7	chr5:77945739-77945789	HCM	heart:	n/a
8	chr5:77945219-77945269	A549	lung:	n/a
9	chr5:77945347-77945397	MCF-7	breast:	n/a
10	chr5:77945347-77945397	HNPCEpiC	eye:	n/a
11	chr5:77945219-77945269	NT2-D1	testis:	n/a
12	chr5:77945347-77945397	GM12892	blood:	n/a
13	chr5:77945219-77945269	BE2_C	brain:	n/a
14	chr5:77945739-77945789	HEK293	kidney:	embryo
15	chr5:77945739-77945789	NH-A	brain:	n/a
16	chr5:77945219-77945269	T-47D	breast:	n/a
17	chr5:77945347-77945397	SK-N-SH_RA	brain:	n/a
18	chr5:77945347-77945397	BJ	skin:	n/a
19	chr5:77945219-77945269	AG10803	skin:	n/a
20	chr5:77945178-77945228	Hela-S3	cervix:	n/a
21	chr5:77945739-77945789	GM12892	blood:	n/a
22	chr5:77945347-77945397	BE2_C	brain:	n/a
23	chr5:77945219-77945269	HEEpiC	esophagus:	n/a
24	chr5:77945219-77945269	PANC-1	pancreas:	n/a
25	chr5:77945347-77945397	Hepatocyte	liver:	n/a
26	chr5:77945347-77945397	HCT-116	colon:	n/a
27	chr5:77945219-77945269	IMR90	lung:	fetal
28	chr5:77945219-77945269	HAEpiC	amniotic membrane:	n/a
29	chr5:77945178-77945228	GM19239	blood:	n/a
30	chr5:77945347-77945397	K562	blood:	n/a
31	chr5:77945219-77945269	Caco-2	colon:	n/a
32	chr5:77945178-77945228	HCPEpiC	choroid plexus:	n/a
33	chr5:77945219-77945269	HNPCEpiC	eye:	n/a
34	chr5:77945739-77945789	MCF10A-Er-Src	breast:	n/a
35	chr5:77945178-77945228	Jurkat	blood:	n/a
36	chr5:77945347-77945397	HEK293	kidney:	embryo
37	chr5:77945347-77945397	NB4	blood:	n/a
38	chr5:77945219-77945269	BJ	skin:	n/a
39	chr5:77945739-77945789	HCPEpiC	choroid plexus:	n/a
40	chr5:77945347-77945397	AG04450	lung:	fetal
41	chr5:77945347-77945397	HMEC	breast:	n/a
42	chr5:77945347-77945397	HRPEpiC	eye:	n/a
43	chr5:77945739-77945789	MCF-7	breast:	n/a
44	chr5:77945739-77945789	HepG2	liver:	n/a
45	chr5:77945219-77945269	AG09319	gingival:	n/a
46	chr5:77945178-77945228	SK-N-MC	brain:	n/a
47	chr5:77945739-77945789	IMR90	lung:	fetal
48	chr5:77945739-77945789	GM12878	blood:	n/a
49	chr5:77945219-77945269	PFSK-1	brain:	n/a
50	chr5:77945739-77945789	NHBE	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:77945458..77947369-chr5:77973307..77975636,2	K562	blood:
2	chr5:77944860..77948164-chr5:77958771..77961486,4	MCF-7	breast:
3	chr5:77932938..77939935-chr5:77942023..77946135,10	MCF-7	breast:
4	chr5:77936618..77938171-chr5:77943031..77945738,2	K562	blood:
5	chr5:77945339..77947011-chr5:77970962..77972578,2	K562	blood:
6	chr5:77935628..77937313-chr5:77945519..77948138,2	MCF-7	breast:

Variant related genes	Relation type
HMGB1P21	TF binding region
LHFPL2	TF binding region
HMGB1P21	CpG island
LHFPL2	CpG island
ENSG00000145685	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148824713	chr5:77945167-77945168	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs560376734	chr5:77945221-77945222	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs532593634	chr5:77945258-77945259	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs73769044	chr5:77945276-77945277	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs569223590	chr5:77945318-77945319	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs547267674	chr5:77945339-77945340	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs78941363	chr5:77945407-77945408	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs115939333	chr5:77945412-77945413	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs72762908	chr5:77945435-77945436	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs533545551	chr5:77945438-77945439	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs553866157	chr5:77945485-77945486	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs146827144	chr5:77945536-77945537	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs201935781	chr5:77945537-77945538	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs341923	chr5:77945540-77945541	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs576991149	chr5:77945598-77945599	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs535339512	chr5:77945678-77945679	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs370740716	chr5:77945748-77945749	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs188799007	chr5:77945782-77945783	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs193247497	chr5:77945809-77945810	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs73769046	chr5:77945899-77945900	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:235 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:77941600-77945200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:77942200-77945200	Active TSS	HSMMtube	muscle
3	chr5:77942200-77945400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:77942200-77945400	Active TSS	Rectal Smooth Muscle	rectum
5	chr5:77942200-77945600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr5:77942200-77945800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr5:77942600-77945200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:77942600-77945200	Active TSS	Fetal Stomach	stomach
9	chr5:77942600-77945400	Active TSS	Aorta	Aorta
10	chr5:77942600-77945400	Active TSS	Ovary	ovary
11	chr5:77942800-77945200	Active TSS	HSMM	muscle
12	chr5:77942800-77945200	Active TSS	NHLF	lung
13	chr5:77942800-77945400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:77942800-77945400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:77942800-77945400	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr5:77942800-77945400	Active TSS	NHDF-Ad	bronchial
17	chr5:77942800-77945600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:77942800-77945600	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr5:77942800-77945800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr5:77943000-77945200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:77943000-77945200	Active TSS	A549	lung
22	chr5:77943000-77945400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:77943000-77945400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:77943000-77945400	Active TSS	Fetal Intestine Large	intestine
25	chr5:77943000-77945400	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr5:77943000-77945600	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr5:77943000-77945800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr5:77943000-77945800	Active TSS	H9 Cell Line	embryonic stem cell
29	chr5:77943000-77946000	Active TSS	Fetal Kidney	kidney
30	chr5:77943200-77945200	Active TSS	Lung	lung
31	chr5:77943200-77945400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:77943200-77945400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:77943200-77945400	Active TSS	Colon Smooth Muscle	Colon
34	chr5:77943200-77945600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:77943200-77945600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:77943200-77945600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr5:77943200-77945600	Active TSS	HepG2	liver
38	chr5:77943200-77945800	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr5:77943400-77945200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:77943400-77945200	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr5:77943400-77945200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr5:77943400-77945200	Active TSS	Gastric	stomach
43	chr5:77943400-77945200	Active TSS	Placenta Amnion	Placenta Amnion
44	chr5:77943400-77945400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:77943400-77945400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:77943400-77945400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:77943400-77945400	Active TSS	Placenta	Placenta
48	chr5:77943400-77945400	Active TSS	Pancreas	Pancrea
49	chr5:77943400-77945400	Active TSS	Psoas Muscle	Psoas
50	chr5:77943400-77945600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links