Variant report

Variant	rs13110748
Chromosome Location	chr4:147361940-147361941
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10001383	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10011222	0.80[EUR][1000 genomes]
rs10012310	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10017463	0.86[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10018860	0.87[CEU][hapmap];0.86[MEX][hapmap];0.80[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10024266	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs10026558	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs10030464	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10032453	0.90[CEU][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11100926	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11726588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11726594	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11727219	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11734649	0.87[CEU][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11940327	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13105153	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];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13134417	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13134849	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13149918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13151354	0.86[EUR][1000 genomes]
rs13435029	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17769016	0.87[CEU][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2244306	0.86[MEX][hapmap]
rs2356822	0.86[MEX][hapmap]
rs2630279	0.94[GIH][hapmap];0.86[MEX][hapmap]
rs2679138	0.88[GIH][hapmap]
rs3849037	0.87[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3914629	0.85[EUR][1000 genomes]
rs4407528	0.86[MEX][hapmap]
rs4835037	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4835040	0.87[CEU][hapmap];0.80[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4835307	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4835310	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];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4835312	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4835313	0.86[CEU][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4835314	0.87[CEU][hapmap];0.86[MEX][hapmap];0.80[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4835315	0.86[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4835316	0.86[CEU][hapmap];0.80[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6537419	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6537421	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6537423	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6537424	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6537425	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6537426	0.82[EUR][1000 genomes]
rs6812728	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6815417	0.86[EUR][1000 genomes]
rs6816737	0.87[CEU][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6819042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6829209	0.87[CEU][hapmap];0.80[TSI][hapmap];0.86[EUR][1000 genomes]
rs6837453	0.87[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6846498	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6849958	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs7435019	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7437083	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs7439061	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs7439429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7670877	0.94[GIH][hapmap];0.86[MEX][hapmap]
rs7687182	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7687917	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9992118	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9995307	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9995820	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv428453	chr4:147335953-147457115	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147346200-147371400	Weak transcription	Primary B cells from cord blood	blood
2	chr4:147353800-147371000	Weak transcription	GM12878-XiMat	blood
3	chr4:147358000-147364400	Weak transcription	NHLF	lung
4	chr4:147358400-147363600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:147358400-147366800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:147359400-147363800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:147359800-147363600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:147359800-147363600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:147359800-147363800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr4:147359800-147363800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr4:147359800-147370200	Weak transcription	Aorta	Aorta
12	chr4:147360000-147363800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:147360200-147362000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:147360400-147366400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:147360600-147371600	Weak transcription	Primary T cells from cord blood	blood
16	chr4:147361000-147363600	Weak transcription	NHDF-Ad	bronchial
17	chr4:147361000-147366600	Weak transcription	Adipose Nuclei	Adipose
18	chr4:147361600-147366400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:147361600-147366600	Weak transcription	Left Ventricle	heart
20	chr4:147361800-147363400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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