Variant report

Variant	rs57530569
Chromosome Location	chr3:53320796-53320797
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr3:53320663-53321197	H1-hESC	embryonic stem cell:	n/a	n/a
2	POU5F1	chr3:53320679-53321233	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAFK	chr3:53320788-53321367	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr3:53320730-53320984	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr3:53320720-53321144	H1-hESC	embryonic stem cell:	n/a	n/a
6	SIN3A	chr3:53320631-53321547	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr3:53320351-53321519	K562	blood:	n/a	n/a
8	BACH1	chr3:53320706-53321323	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr3:53320685-53321180	H1-hESC	embryonic stem cell:	n/a	n/a
10	SP1	chr3:53320710-53321223	H1-hESC	embryonic stem cell:	n/a	n/a
11	SIN3AK20	chr3:53320782-53321093	H1-hESC	embryonic stem cell:	n/a	n/a
12	TEAD4	chr3:53320697-53321068	H1-hESC	embryonic stem cell:	n/a	n/a
13	SIN3AK20	chr3:53320680-53321058	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr3:53320743-53320987	HepG2	liver:	n/a	n/a
15	CEBPB	chr3:53320780-53321289	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:53317349..53318958-chr3:53320519..53322131,2	K562	blood:
2	chr3:53289083..53290677-chr3:53319706..53322306,2	MCF-7	breast:
3	chr3:53288401..53290703-chr3:53318861..53320901,2	K562	blood:
4	chr3:53319703..53321430-chr3:53323136..53326005,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000238565	TF binding region
ENSG00000206902	TF binding region
RN7SL821P	TF binding region
ENSG00000206902	Chromatin interaction
ENSG00000163931	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs55739626	1.00[AMR][1000 genomes]
rs55797425	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56138740	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57085673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57188310	1.00[AMR][1000 genomes]
rs57320366	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58006923	1.00[AMR][1000 genomes]
rs58191586	1.00[AMR][1000 genomes]
rs58563464	1.00[AMR][1000 genomes]
rs60407612	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60891705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72957562	1.00[AMR][1000 genomes]
rs73840109	1.00[AMR][1000 genomes]
rs73840110	1.00[AMR][1000 genomes]
rs73840218	1.00[AMR][1000 genomes]
rs73840219	1.00[AMR][1000 genomes]
rs73840220	1.00[AMR][1000 genomes]
rs73840224	1.00[AMR][1000 genomes]
rs73840228	1.00[AMR][1000 genomes]
rs73840236	1.00[AMR][1000 genomes]
rs73840239	1.00[AMR][1000 genomes]
rs73840247	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73840260	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73840281	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73840298	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843108	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843111	1.00[AMR][1000 genomes]
rs73843112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843113	1.00[AMR][1000 genomes]
rs73843115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843118	1.00[AFR][1000 genomes]
rs73843120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843124	1.00[AMR][1000 genomes]
rs73843127	1.00[AMR][1000 genomes]
rs73843129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843130	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843148	1.00[AMR][1000 genomes]
rs874586	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834699	chr3:53151876-53325808	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv517233	chr3:53175557-53321002	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53304600-53325600	Weak transcription	Fetal Heart	heart
2	chr3:53304600-53326200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:53305000-53324400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:53309400-53351200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:53309800-53325600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr3:53309800-53326200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr3:53312200-53337400	Weak transcription	Psoas Muscle	Psoas
8	chr3:53312400-53328000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:53313200-53321400	Weak transcription	Fetal Kidney	kidney
10	chr3:53314200-53325600	Weak transcription	Colonic Mucosa	Colon
11	chr3:53314200-53326400	Weak transcription	K562	blood
12	chr3:53315200-53320800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:53315200-53326800	Strong transcription	Primary B cells from cord blood	blood
14	chr3:53315200-53333800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr3:53315200-53338400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr3:53315400-53320800	Strong transcription	Fetal Thymus	thymus
17	chr3:53315600-53322800	Strong transcription	Thymus	Thymus
18	chr3:53316400-53322600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:53316400-53322600	Strong transcription	Adipose Nuclei	Adipose
20	chr3:53316400-53323000	Strong transcription	Primary T cells from cord blood	blood
21	chr3:53316400-53333600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr3:53316400-53337600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:53316600-53320800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:53316600-53320800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr3:53316600-53321000	Strong transcription	Primary hematopoietic stem cells	blood
26	chr3:53316600-53321000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:53316600-53321400	Strong transcription	HUVEC	blood vessel
28	chr3:53316600-53322200	Strong transcription	Lung	lung
29	chr3:53316600-53322400	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr3:53316600-53322600	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr3:53316600-53322600	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr3:53316600-53322800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr3:53316600-53322800	Strong transcription	Dnd41	blood
34	chr3:53316600-53324400	Strong transcription	Left Ventricle	heart
35	chr3:53316600-53327200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr3:53316600-53327200	Strong transcription	Liver	Liver
37	chr3:53316600-53329200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr3:53316600-53333600	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr3:53316600-53333800	Strong transcription	Placenta	Placenta
40	chr3:53316600-53338600	Strong transcription	Fetal Muscle Leg	muscle
41	chr3:53316800-53320800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:53316800-53321000	Strong transcription	Osteobl	bone
43	chr3:53316800-53321400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:53316800-53322400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:53317000-53322800	Strong transcription	HepG2	liver
46	chr3:53317000-53326000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr3:53317200-53332600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr3:53317400-53332200	Weak transcription	Small Intestine	intestine
49	chr3:53317800-53322400	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr3:53317800-53323200	Strong transcription	Primary neutrophils fromperipheralblood	blood

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