Variant report

Variant	rs2241744
Chromosome Location	chr4:96091250-96091251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10004711	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10026552	0.95[AFR][1000 genomes]
rs10155123	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.92[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10155222	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10212627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10516958	1.00[CEU][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes]
rs11097456	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11097457	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs11097458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12506402	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12640643	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12644188	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12650281	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13139538	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1365691	0.96[CEU][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1369085	0.96[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1434535	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1434536	1.00[CEU][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1434538	1.00[CEU][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1434539	1.00[CEU][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1540403	0.96[CEU][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17348139	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1813074	0.96[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1836261	0.85[CEU][hapmap];0.81[JPT][hapmap];0.82[TSI][hapmap]
rs1863654	0.86[CHB][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1966548	0.85[CEU][hapmap]
rs1970801	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs2114533	0.84[EUR][1000 genomes]
rs2162450	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2241743	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289043	1.00[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs2289044	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs2865397	0.86[CEU][hapmap]
rs3755876	1.00[CEU][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3775042	0.96[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3796437	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3796439	0.82[CEU][hapmap]
rs3796443	1.00[CEU][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3796462	0.92[MKK][hapmap]
rs3821964	0.85[CEU][hapmap]
rs3857227	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3857228	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58399580	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60472405	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6815969	0.85[EUR][1000 genomes]
rs7664562	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs767824	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7694131	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7694531	0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs965823	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs975608	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs989383	1.00[CEU][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9992669	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv492312	chr4:95823124-96128327	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv830011	chr4:95947560-96103934	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv594907	chr4:95975470-96170439	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96059800-96100400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr4:96080400-96098600	Weak transcription	Fetal Kidney	kidney
3	chr4:96084600-96111800	Weak transcription	Fetal Muscle Leg	muscle
4	chr4:96084800-96099800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:96087600-96107000	Weak transcription	A549	lung
6	chr4:96088000-96091800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:96088200-96091400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:96088200-96092000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:96088600-96091600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:96089200-96091400	Weak transcription	Brain Angular Gyrus	brain
11	chr4:96089200-96098400	Weak transcription	Aorta	Aorta
12	chr4:96089200-96098400	Weak transcription	Ovary	ovary
13	chr4:96089400-96091800	Genic enhancers	Brain Inferior Temporal Lobe	brain
14	chr4:96089600-96091800	Strong transcription	Fetal Lung	lung
15	chr4:96089800-96091400	Genic enhancers	Brain Hippocampus Middle	brain
16	chr4:96089800-96091600	Genic enhancers	Brain Anterior Caudate	brain
17	chr4:96089800-96091800	Enhancers	Brain Cingulate Gyrus	brain
18	chr4:96090000-96092000	Enhancers	Brain Substantia Nigra	brain
19	chr4:96090200-96091400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:96090200-96091400	Strong transcription	Stomach Smooth Muscle	stomach
21	chr4:96090200-96091800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:96090400-96091600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:96090600-96097600	Weak transcription	Fetal Stomach	stomach
24	chr4:96090600-96098400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:96090800-96091600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:96091000-96111600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr4:96091200-96092000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:96091200-96098000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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