Variant report

Variant	rs58025924
Chromosome Location	chr3:49945996-49945997
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr3:49945955-49946102	K562	blood:	n/a	n/a
2	POLR2A	chr3:49945580-49946212	K562	blood:	n/a	n/a
3	CCNT2	chr3:49945852-49946017	K562	blood:	n/a	n/a
4	MAZ	chr3:49945739-49946223	IMR90	lung:	n/a	chr3:49946170-49946179
5	RCOR1	chr3:49945882-49946200	K562	blood:	n/a	n/a
6	MAX	chr3:49945833-49946073	K562	blood:	n/a	n/a
7	MAX	chr3:49945837-49946051	K562	blood:	n/a	n/a
8	EP300	chr3:49945856-49946135	K562	blood:	n/a	n/a
9	TBL1XR1	chr3:49945970-49946100	K562	blood:	n/a	n/a
10	MYC	chr3:49945854-49946064	K562	blood:	n/a	n/a
11	GATA1	chr3:49945775-49946260	PBDE	blood:	n/a	chr3:49946006-49946027
12	MAZ	chr3:49945835-49946171	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49945403..49947353-chr3:49976040..49979218,3	K562	blood:
2	chr3:49715085..49717288-chr3:49943481..49946455,2	K562	blood:
3	chr3:49942811..49946038-chr3:49946373..49949588,4	K562	blood:
4	chr3:49944909..49947353-chr3:49976040..49977546,2	K562	blood:
5	chr3:49936575..49939854-chr3:49944079..49947102,4	MCF-7	breast:
6	chr3:49938059..49942397-chr3:49945875..49951610,6	K562	blood:
7	chr3:49943889..49946064-chr3:49967481..49970141,2	K562	blood:
8	chr3:49839380..49841978-chr3:49945252..49946999,2	K562	blood:
9	chr3:49713853..49717288-chr3:49943481..49946455,3	K562	blood:
10	chr3:49941945..49947861-chr3:49964712..49970141,7	K562	blood:

No data

Variant related genes	Relation type
MST1R	TF binding region
ENSG00000228008	Chromatin interaction
ENSG00000164062	Chromatin interaction
ENSG00000230698	Chromatin interaction
ENSG00000164077	Chromatin interaction
ENSG00000164078	Chromatin interaction
ENSG00000185614	Chromatin interaction
ENSG00000004534	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs11130223	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11130225	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11130230	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11130237	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11130239	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11130240	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11916261	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11916999	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11920034	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11923132	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11924670	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11924711	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11925156	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12486470	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12486808	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12486832	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12489386	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12490944	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12492291	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12493565	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12494077	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12494172	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12494916	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12495114	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12495831	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12629129	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12629553	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12629677	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12630917	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12630959	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12631248	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12631306	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12631309	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12631608	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12632751	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12636045	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12636669	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12637222	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12637457	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12637681	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12638046	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1317215	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13326300	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2023951	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2023952	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28478136	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35333166	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs41291716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55643042	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57009357	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57575459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58621288	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58766761	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59802870	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61263937	0.85[EUR][1000 genomes]
rs61491513	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61729114	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62260717	0.84[EUR][1000 genomes]
rs62260756	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62262060	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62262095	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62262096	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62262099	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62262100	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62262104	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62262105	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62262116	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62262117	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62262136	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62262138	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62262144	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62262145	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62262148	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62263578	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62263580	0.92[EUR][1000 genomes]
rs62263584	0.92[EUR][1000 genomes]
rs62263586	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62263588	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62263590	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62263591	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62263600	0.87[AMR][1000 genomes]
rs6797500	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9813644	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9859813	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv876766	chr3:49817450-49961780	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49941600-49946200	Weak transcription	Brain Germinal Matrix	brain
2	chr3:49941800-49946000	Enhancers	Fetal Intestine Large	intestine
3	chr3:49941800-49946200	Weak transcription	Brain Substantia Nigra	brain
4	chr3:49941800-49950200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:49943600-49950800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:49943800-49946200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:49943800-49946200	Weak transcription	Brain Angular Gyrus	brain
8	chr3:49943800-49947600	Weak transcription	Fetal Heart	heart
9	chr3:49943800-49966000	Weak transcription	Psoas Muscle	Psoas
10	chr3:49944000-49946200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:49944000-49946200	Weak transcription	Liver	Liver
12	chr3:49944000-49946200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr3:49944000-49946200	Weak transcription	Osteobl	bone
14	chr3:49944000-49946400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr3:49944000-49946600	Weak transcription	NHLF	lung
16	chr3:49944000-49947400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:49944000-49947600	Weak transcription	Aorta	Aorta
18	chr3:49944000-49947600	Weak transcription	Fetal Lung	lung
19	chr3:49944000-49949400	Weak transcription	Right Atrium	heart
20	chr3:49944000-49954000	Weak transcription	NHDF-Ad	bronchial
21	chr3:49944200-49946000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:49944200-49946000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:49944200-49946000	Weak transcription	Esophagus	oesophagus
24	chr3:49944200-49946000	Weak transcription	Lung	lung
25	chr3:49944200-49946200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:49944200-49946200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:49944200-49946200	Weak transcription	Brain Anterior Caudate	brain
28	chr3:49944200-49946200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:49944200-49946200	Weak transcription	Left Ventricle	heart
30	chr3:49944200-49946200	Weak transcription	Pancreas	Pancrea
31	chr3:49944200-49946200	Weak transcription	Right Ventricle	heart
32	chr3:49944200-49946200	Enhancers	Stomach Mucosa	stomach
33	chr3:49944200-49946400	Weak transcription	Gastric	stomach
34	chr3:49944200-49946400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr3:49944200-49946400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr3:49944200-49946600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr3:49944200-49946600	Weak transcription	Colonic Mucosa	Colon
38	chr3:49944200-49946800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:49944200-49947000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:49944200-49947400	Weak transcription	Ovary	ovary
41	chr3:49944200-49947600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr3:49944200-49947600	Weak transcription	Fetal Brain Male	brain
43	chr3:49944200-49948800	Weak transcription	HSMMtube	muscle
44	chr3:49944200-49949800	Weak transcription	Colon Smooth Muscle	Colon
45	chr3:49944200-49956200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr3:49944200-49962000	Weak transcription	HepG2	liver
47	chr3:49944200-49962000	Weak transcription	HSMM	muscle
48	chr3:49944200-49962000	Weak transcription	NH-A	brain
49	chr3:49944200-49966000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr3:49944400-49946000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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