Variant report

Variant	rs534655
Chromosome Location	chr5:43044584-43044585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:43044327-43044845	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr5:43044329-43044709	HUVEC	blood vessel:	n/a	n/a
3	BACH1	chr5:43044381-43044691	H1-hESC	embryonic stem cell:	n/a	n/a
4	GATA1	chr5:43044356-43045070	PBDE	blood:	n/a	n/a
5	POLR2A	chr5:43044425-43044648	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr5:43044290-43044806	PANC-1	pancreas:	n/a	n/a
7	CTCF	chr5:43044440-43044590	HRPEpiC	eye:	n/a	n/a
8	POLR2A	chr5:43044201-43044885	HL-60	blood:	n/a	n/a
9	POLR2A	chr5:43044287-43044832	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr5:43044465-43044604	ProgFib	skin:	n/a	n/a
11	CTCF	chr5:43044580-43044830	HRE	kidney:	n/a	n/a
12	POLR2A	chr5:43044242-43044831	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr5:43044205-43044793	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr5:43044231-43044691	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr5:43044185-43044670	HUVEC	blood vessel:	n/a	n/a
16	TCF7L2	chr5:43044414-43045616	PANC-1	pancreas:	n/a	n/a
17	USF2	chr5:43044509-43044692	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr5:43044580-43044730	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr5:43044540-43044690	HUVEC	blood vessel:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:43044573-43044623	A549	lung:	n/a
2	chr5:43044573-43044623	HL-60	blood:	n/a
3	chr5:43044573-43044623	NHBE	bronchial:	n/a
4	chr5:43044573-43044623	HNPCEpiC	eye:	n/a
5	chr5:43044573-43044623	HCF	heart:	n/a
6	chr5:43044573-43044623	AG10803	skin:	n/a
7	chr5:43044573-43044623	SAEC	small airway:	n/a
8	chr5:43044573-43044623	HIPEpiC	eye:	n/a
9	chr5:43044573-43044623	HRCEpiC	kidney:	n/a
10	chr5:43044573-43044623	HRPEpiC	eye:	n/a
11	chr5:43044573-43044623	H1-hESC	embryonic stem cell:	embryo
12	chr5:43044573-43044623	BE2_C	brain:	n/a
13	chr5:43044573-43044623	PANC-1	pancreas:	n/a
14	chr5:43044573-43044623	K562	blood:	n/a
15	chr5:43044573-43044623	HCT-116	colon:	n/a
16	chr5:43044573-43044623	MCF10A-Er-Src	breast:	n/a
17	chr5:43044573-43044623	MCF-7	breast:	n/a
18	chr5:43044573-43044623	T-47D	breast:	n/a
19	chr5:43044573-43044623	U87	brain:	n/a
20	chr5:43044573-43044623	GM19239	blood:	n/a
21	chr5:43044573-43044623	HCM	heart:	n/a
22	chr5:43044573-43044623	SKMC	muscle:	n/a
23	chr5:43044573-43044623	NT2-D1	testis:	n/a
24	chr5:43044573-43044623	GM12878	blood:	n/a
25	chr5:43044573-43044623	ProgFib	skin:	n/a
26	chr5:43044573-43044623	HCPEpiC	choroid plexus:	n/a
27	chr5:43044573-43044623	SK-N-MC	brain:	n/a
28	chr5:43044573-43044623	Caco-2	colon:	n/a
29	chr5:43044573-43044623	HAEpiC	amniotic membrane:	n/a
30	chr5:43044573-43044623	HEEpiC	esophagus:	n/a
31	chr5:43044573-43044623	HEK293	kidney:	embryo
32	chr5:43044573-43044623	AG04450	lung:	fetal
33	chr5:43044573-43044623	IMR90	lung:	fetal
34	chr5:43044573-43044623	ECC-1	luminal epithelium:	n/a
35	chr5:43044573-43044623	Jurkat	blood:	n/a
36	chr5:43044573-43044623	ovcar-3	ovarian:	n/a
37	chr5:43044573-43044623	SK-N-SH_RA	brain:	n/a
38	chr5:43044573-43044623	LNCaP	prostate:	n/a
39	chr5:43044573-43044623	HRE	kidney:	n/a
40	chr5:43044573-43044623	HUVEC	blood vessel:	n/a
41	chr5:43044573-43044623	Hepatocyte	liver:	n/a
42	chr5:43044573-43044623	AoSMC	blood vessel:	n/a
43	chr5:43044573-43044623	AG09319	gingival:	n/a
44	chr5:43044573-43044623	GM12892	blood:	n/a
45	chr5:43044573-43044623	AG09309	skin:	n/a
46	chr5:43044573-43044623	HMEC	breast:	n/a
47	chr5:43044573-43044623	NH-A	brain:	n/a
48	chr5:43044573-43044623	HPAEpiC	pulmonary alveolar:	n/a
49	chr5:43044573-43044623	PFSK-1	brain:	n/a
50	chr5:43044573-43044623	BJ	skin:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43014739..43026335-chr5:43034830..43045515,33	MCF-7	breast:
2	chr5:43034726..43053192-chr5:43061725..43074206,66	K562	blood:
3	chr5:43036901..43050217-chr5:43060442..43069391,53	MCF-7	breast:
4	chr5:43037720..43044659-chr5:43062293..43069444,31	K562	blood:
5	chr5:43038662..43048059-chr5:43059399..43070773,40	MCF-7	breast:
6	chr5:43044445..43046601-chr5:43140326..43141953,2	MCF-7	breast:
7	chr5:43040708..43045055-chr5:43119670..43122847,6	K562	blood:

No data

Variant related genes	Relation type
ANXA2R	TF binding region
ANXA2R	CpG island
ENSG00000177738	Chromatin interaction
ENSG00000272144	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000251131	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1690989	1.00[AMR][1000 genomes]
rs1690996	1.00[AMR][1000 genomes]
rs2444778	1.00[AMR][1000 genomes]
rs2453311	1.00[AMR][1000 genomes]
rs2548375	1.00[AMR][1000 genomes]
rs309941	1.00[AMR][1000 genomes]
rs473870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs481347	1.00[AMR][1000 genomes]
rs482224	1.00[AMR][1000 genomes]
rs4866731	1.00[AMR][1000 genomes]
rs500322	1.00[AMR][1000 genomes]
rs500993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs516939	1.00[AMR][1000 genomes]
rs549343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs550847	1.00[AMR][1000 genomes]
rs558935	1.00[AMR][1000 genomes]
rs566582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs623083	1.00[AMR][1000 genomes]
rs6414901	1.00[AMR][1000 genomes]
rs661413	1.00[AMR][1000 genomes]
rs665790	1.00[AMR][1000 genomes]
rs666663	1.00[AMR][1000 genomes]
rs6888146	1.00[AMR][1000 genomes]
rs693466	1.00[AMR][1000 genomes]
rs73090731	1.00[AMR][1000 genomes]
rs7712183	1.00[AMR][1000 genomes]
rs7727600	1.00[AMR][1000 genomes]
rs782973	1.00[AMR][1000 genomes]
rs782981	1.00[AMR][1000 genomes]
rs782982	1.00[AMR][1000 genomes]
rs782983	1.00[AMR][1000 genomes]
rs782986	1.00[AMR][1000 genomes]
rs803501	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
7	nsv1029288	chr5:42928085-43047323	Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	120 gene(s)	inside rSNPs	diseases
8	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
9	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
10	esv3357318	chr5:43042995-43045168	Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43037400-43045000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:43039400-43044800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:43039800-43044800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:43040000-43045000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:43040400-43045000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:43043600-43044600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:43043600-43050600	Weak transcription	GM12878-XiMat	blood
8	chr5:43043600-43052600	Weak transcription	A549	lung
9	chr5:43043600-43058200	Weak transcription	Gastric	stomach
10	chr5:43043600-43058200	Weak transcription	HSMMtube	muscle
11	chr5:43043600-43061600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:43043600-43063800	Weak transcription	Aorta	Aorta
13	chr5:43043600-43064000	Weak transcription	NHEK	skin
14	chr5:43043800-43044600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr5:43043800-43044600	Enhancers	Right Atrium	heart
16	chr5:43043800-43044800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr5:43043800-43044800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:43043800-43045000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr5:43043800-43045400	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr5:43043800-43050600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr5:43043800-43054400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:43043800-43057400	Weak transcription	Primary B cells from cord blood	blood
23	chr5:43043800-43058000	Weak transcription	HepG2	liver
24	chr5:43043800-43061200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:43043800-43064000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr5:43044200-43044600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:43044200-43044600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr5:43044200-43044600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
29	chr5:43044200-43044600	Enhancers	Liver	Liver
30	chr5:43044200-43044800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr5:43044200-43044800	Genic enhancers	Esophagus	oesophagus
32	chr5:43044200-43044800	Bivalent Enhancer	Fetal Thymus	thymus
33	chr5:43044200-43044800	Genic enhancers	Lung	lung
34	chr5:43044200-43044800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr5:43044200-43044800	Bivalent Enhancer	Small Intestine	intestine
36	chr5:43044200-43045000	Enhancers	Primary B cells from peripheral blood	blood
37	chr5:43044200-43045000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr5:43044200-43045000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr5:43044200-43045200	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr5:43044200-43045400	Genic enhancers	Primary T cells fromperipheralblood	blood
41	chr5:43044200-43045400	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr5:43044200-43045800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr5:43044200-43046000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:43044400-43044600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr5:43044400-43044600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
46	chr5:43044400-43044600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:43044400-43044600	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
48	chr5:43044400-43044600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:43044400-43044600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
50	chr5:43044400-43044600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell

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