Variant report

Variant	rs2241864
Chromosome Location	chr1:47150039-47150040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	KIAA0494	hsa-miR-93-5p	chr1:47150018-47150040

Variant related genes	Relation type
KIAA0494	miRNA target site

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10890410	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10890414	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11211332	0.89[EUR][1000 genomes]
rs11211343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11211347	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11801744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[ASN][1000 genomes]
rs12059860	1.00[CEU][hapmap]
rs12060032	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12562113	0.88[ASN][1000 genomes]
rs12566278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12568734	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1258010	1.00[TSI][hapmap]
rs1258022	1.00[TSI][hapmap]
rs1258055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1258058	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1258063	0.86[ASN][1000 genomes]
rs1258064	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1258065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1258066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1258068	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1258072	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1268714	0.88[ASN][1000 genomes]
rs1273237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13374909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1745376	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1933932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2146560	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2181412	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2241863	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2439442	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2476153	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2476155	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2476156	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2476157	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2476159	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2486160	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2486162	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3011290	0.89[ASN][1000 genomes]
rs3766218	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766221	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3766222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3766223	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56771521	0.97[ASN][1000 genomes]
rs57495753	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs582269	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs582323	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs582760	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs583649	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58678760	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58920789	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs59479990	0.97[ASN][1000 genomes]
rs596794	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs597221	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60239027	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs604233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs604264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs611919	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs629412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs631368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs631840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs636082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs636122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs636424	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs648822	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs654544	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs655369	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs657166	0.96[ASN][1000 genomes]
rs6677350	1.00[CEU][hapmap]
rs669647	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs673134	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs675731	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs678466	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs683585	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs685862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs689300	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs723333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs724309	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap]
rs72896683	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72900715	0.97[ASN][1000 genomes]
rs736188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9094	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47134600-47153000	Weak transcription	Right Atrium	heart
2	chr1:47134600-47157200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:47134800-47152600	Weak transcription	A549	lung
4	chr1:47138000-47152000	Strong transcription	Stomach Smooth Muscle	stomach
5	chr1:47138000-47157800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:47138200-47152200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:47138200-47152600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:47138200-47159400	Strong transcription	Placenta	Placenta
9	chr1:47138400-47151600	Strong transcription	Duodenum Mucosa	Duodenum
10	chr1:47138400-47152200	Strong transcription	Adipose Nuclei	Adipose
11	chr1:47138400-47158800	Strong transcription	Fetal Muscle Trunk	muscle
12	chr1:47138400-47159400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:47138600-47152400	Strong transcription	Primary hematopoietic stem cells	blood
14	chr1:47138800-47152800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr1:47138800-47153200	Strong transcription	Fetal Muscle Leg	muscle
16	chr1:47138800-47158600	Strong transcription	Primary B cells from cord blood	blood
17	chr1:47139000-47152400	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:47139000-47152800	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:47139000-47159400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:47139200-47153000	Weak transcription	Fetal Heart	heart
21	chr1:47139200-47153400	Strong transcription	Dnd41	blood
22	chr1:47139200-47159400	Strong transcription	Brain Germinal Matrix	brain
23	chr1:47139200-47159800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:47139400-47152600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:47139400-47152600	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:47139400-47153000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr1:47139400-47159600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:47139600-47152800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:47139600-47153000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:47139600-47159400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:47139800-47152800	Strong transcription	Osteobl	bone
32	chr1:47140000-47155400	Strong transcription	HSMM	muscle
33	chr1:47141200-47150800	Strong transcription	Brain Hippocampus Middle	brain
34	chr1:47141200-47157800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:47141400-47183400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:47142000-47153000	Strong transcription	Liver	Liver
37	chr1:47142000-47159400	Strong transcription	K562	blood
38	chr1:47142000-47159800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr1:47142400-47151000	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:47142400-47158000	Strong transcription	HMEC	breast
41	chr1:47142600-47150800	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:47142600-47158200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:47142600-47159200	Strong transcription	GM12878-XiMat	blood
44	chr1:47142600-47159400	Strong transcription	NHEK	skin
45	chr1:47142800-47150200	Strong transcription	Fetal Stomach	stomach
46	chr1:47142800-47150600	Strong transcription	Ovary	ovary
47	chr1:47142800-47150800	Strong transcription	Left Ventricle	heart
48	chr1:47142800-47151600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:47142800-47152600	Strong transcription	Fetal Lung	lung
50	chr1:47142800-47158800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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