Variant report

Variant	rs57417572
Chromosome Location	chr3:113073082-113073083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11927007	0.89[AFR][1000 genomes]
rs16860861	0.95[AFR][1000 genomes]
rs2270784	1.00[ASN][1000 genomes]
rs2306792	1.00[ASN][1000 genomes]
rs3732810	0.95[AFR][1000 genomes]
rs57006145	0.92[ASN][1000 genomes]
rs57251392	1.00[ASN][1000 genomes]
rs57357573	0.87[ASN][1000 genomes]
rs57414437	1.00[ASN][1000 genomes]
rs57591967	0.87[ASN][1000 genomes]
rs57797139	0.87[ASN][1000 genomes]
rs58121831	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58248101	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58551767	0.92[ASN][1000 genomes]
rs58890779	1.00[ASN][1000 genomes]
rs58918720	0.95[AFR][1000 genomes]
rs58992191	0.84[ASN][1000 genomes]
rs59275119	1.00[ASN][1000 genomes]
rs59911537	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60874642	0.82[ASN][1000 genomes]
rs61000519	0.83[AFR][1000 genomes]
rs61151383	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61258912	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6438139	0.95[AFR][1000 genomes]
rs6768642	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6780086	0.92[ASN][1000 genomes]
rs6790910	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6794923	0.95[AFR][1000 genomes]
rs6795288	0.89[AFR][1000 genomes]
rs6808878	0.89[AFR][1000 genomes]
rs7617723	0.83[AFR][1000 genomes]
rs7619717	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7621031	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7621039	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7621213	0.89[AFR][1000 genomes]
rs7621337	0.95[AFR][1000 genomes]
rs7622062	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7627145	0.95[AFR][1000 genomes]
rs7632927	0.89[AFR][1000 genomes]
rs7634526	0.89[AFR][1000 genomes]
rs7644337	0.85[AFR][1000 genomes]
rs7648620	0.92[AFR][1000 genomes]
rs7650771	0.89[AFR][1000 genomes]
rs775218	1.00[ASN][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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113024600-113081000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:113036600-113081000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr3:113036800-113073600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:113036800-113081000	Weak transcription	Gastric	stomach
5	chr3:113036800-113088600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:113042000-113080800	Weak transcription	Ovary	ovary
7	chr3:113042200-113116800	Weak transcription	Primary B cells from cord blood	blood
8	chr3:113042400-113103600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:113045400-113097600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:113059000-113081000	Weak transcription	Fetal Stomach	stomach
11	chr3:113060000-113073200	Weak transcription	Pancreas	Pancrea
12	chr3:113066200-113073600	Weak transcription	Fetal Kidney	kidney
13	chr3:113066200-113102800	Weak transcription	Aorta	Aorta
14	chr3:113066400-113081000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:113066400-113099000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:113066400-113117600	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:113067600-113094400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr3:113068400-113080400	Weak transcription	Lung	lung
19	chr3:113068400-113117000	Weak transcription	Thymus	Thymus
20	chr3:113069000-113101800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:113069400-113088400	Weak transcription	Fetal Intestine Small	intestine
22	chr3:113069800-113083000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:113070000-113081000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:113070600-113099000	Weak transcription	Adipose Nuclei	Adipose
25	chr3:113070800-113087000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:113071400-113083200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr3:113072200-113096800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:113072400-113117200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr3:113072800-113088600	Weak transcription	Spleen	Spleen
30	chr3:113073000-113073200	Enhancers	A549	lung
31	chr3:113073000-113074000	Strong transcription	Primary T cells from cord blood	blood

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