Variant report

Variant	rs55951695
Chromosome Location	chr3:46592476-46592477
allele	A/G
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	GATA3	chr3:46592324-46592524	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000264306	TF binding region

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

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11574431	1.00[EUR][1000 genomes]
rs11574437	1.00[EUR][1000 genomes]
rs11574440	1.00[EUR][1000 genomes]
rs11574441	1.00[EUR][1000 genomes]
rs11575814	1.00[EUR][1000 genomes]
rs11575817	1.00[EUR][1000 genomes]
rs11575818	1.00[EUR][1000 genomes]
rs11575822	1.00[EUR][1000 genomes]
rs13327723	1.00[EUR][1000 genomes]
rs17079122	1.00[AMR][1000 genomes]
rs17141003	1.00[EUR][1000 genomes]
rs17141076	1.00[EUR][1000 genomes]
rs17842821	1.00[EUR][1000 genomes]
rs17842822	1.00[EUR][1000 genomes]
rs2373253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136536	1.00[EUR][1000 genomes]
rs3176763	1.00[EUR][1000 genomes]
rs3181037	1.00[EUR][1000 genomes]
rs35212534	1.00[EUR][1000 genomes]
rs3918370	1.00[EUR][1000 genomes]
rs41495153	1.00[EUR][1000 genomes]
rs57600543	1.00[AMR][1000 genomes]
rs57761566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61737000	1.00[EUR][1000 genomes]
rs6773827	1.00[AMR][1000 genomes]
rs6785033	1.00[AMR][1000 genomes]
rs6801203	1.00[EUR][1000 genomes]
rs723577	1.00[EUR][1000 genomes]
rs73831107	1.00[EUR][1000 genomes]
rs73831148	1.00[AMR][1000 genomes]
rs73831153	1.00[AMR][1000 genomes]
rs73831154	1.00[AMR][1000 genomes]
rs73831162	1.00[AMR][1000 genomes]
rs7611447	1.00[EUR][1000 genomes]
rs7632722	1.00[AMR][1000 genomes]
rs7640084	1.00[EUR][1000 genomes]
rs7652954	1.00[EUR][1000 genomes]
rs9282632	1.00[EUR][1000 genomes]
rs9815029	1.00[AMR][1000 genomes]
rs9819415	1.00[AMR][1000 genomes]
rs9845343	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	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS 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	10 gene(s)	inside rSNPs	diseases
2	nsv876737	chr3:46569721-46595431	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46544800-46599400	Weak transcription	Right Atrium	heart
2	chr3:46578400-46599200	Weak transcription	HSMMtube	muscle
3	chr3:46581200-46599200	Weak transcription	Fetal Heart	heart
4	chr3:46581400-46594400	Enhancers	Fetal Thymus	thymus
5	chr3:46581600-46599400	Weak transcription	Spleen	Spleen
6	chr3:46584400-46598000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:46584800-46592600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr3:46584800-46594000	Weak transcription	NHDF-Ad	bronchial
9	chr3:46584800-46594400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:46586800-46594800	Weak transcription	Liver	Liver
11	chr3:46587200-46598800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:46587800-46597400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:46587800-46599600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr3:46588400-46599600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:46588600-46592600	Weak transcription	Esophagus	oesophagus
16	chr3:46590000-46593000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:46590000-46593600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:46590400-46592600	Enhancers	Thymus	Thymus
19	chr3:46590600-46592600	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:46590800-46593200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:46591000-46599400	Weak transcription	Colon Smooth Muscle	Colon
22	chr3:46591000-46599600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr3:46591200-46592800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:46591200-46599000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:46591400-46592800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:46591400-46593000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:46591400-46594000	Weak transcription	Psoas Muscle	Psoas
28	chr3:46591400-46594200	Weak transcription	Osteobl	bone
29	chr3:46591400-46598400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr3:46591400-46598800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr3:46591400-46599200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:46591400-46599200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:46591400-46599200	Weak transcription	Gastric	stomach
34	chr3:46591400-46599200	Weak transcription	Right Ventricle	heart
35	chr3:46591400-46599400	Weak transcription	Lung	lung
36	chr3:46591400-46600200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr3:46591600-46592600	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr3:46591600-46599800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:46591600-46600000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr3:46591800-46592800	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr3:46591800-46593000	Enhancers	K562	blood
42	chr3:46591800-46594400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr3:46591800-46595000	Enhancers	Dnd41	blood
44	chr3:46591800-46606600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr3:46592200-46592600	Strong transcription	Left Ventricle	heart
46	chr3:46592200-46593200	Strong transcription	Ovary	ovary
47	chr3:46592200-46593600	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr3:46592400-46592600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
49	chr3:46592400-46592800	Strong transcription	Primary T cells from cord blood	blood

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