Variant report

Variant	rs2281004
Chromosome Location	chr1:171106931-171106932
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:171106751-171107057	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:171106633-171107135	MCF10A-Er-Src	breast:	n/a	n/a
3	EBF1	chr1:171106726-171107131	GM12878	blood:	n/a	chr1:171106877-171106888 chr1:171106878-171106888 chr1:171106878-171106887

Variant related genes	Relation type
FMO6P	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10911664	0.99[ASN][1000 genomes]
rs10911683	0.83[ASN][1000 genomes]
rs10911839	0.85[GIH][hapmap]
rs10911841	0.85[GIH][hapmap]
rs1157459	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];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12080672	0.94[ASN][1000 genomes]
rs12086786	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12089338	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16864094	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];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800822	0.81[ASN][1000 genomes]
rs1920152	0.85[GIH][hapmap]
rs1983550	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2064079	0.85[GIH][hapmap]
rs2064080	0.85[GIH][hapmap]
rs2235194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281002	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28363533	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28363535	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28363557	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28363560	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28363597	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4140653	0.83[EUR][1000 genomes]
rs56672667	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56809838	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60447684	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61420043	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66880604	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66963071	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67495591	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68071659	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712662	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742057	0.97[ASN][1000 genomes]
rs742058	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs909529	0.81[ASN][1000 genomes]
rs9970391	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9970392	0.94[ASN][1000 genomes]
rs9970495	1.00[EUR][1000 genomes];0.94[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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer 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	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171091600-171109000	Weak transcription	Right Ventricle	heart
2	chr1:171097800-171107200	Weak transcription	Left Ventricle	heart
3	chr1:171105200-171107600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:171105200-171107800	Enhancers	Stomach Mucosa	stomach
5	chr1:171105400-171107200	Weak transcription	Right Atrium	heart
6	chr1:171105400-171111200	Weak transcription	Aorta	Aorta
7	chr1:171105800-171108400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:171105800-171110400	Enhancers	Fetal Lung	lung
9	chr1:171106200-171107200	Enhancers	Psoas Muscle	Psoas
10	chr1:171106400-171107200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:171106400-171107200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:171106400-171107800	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:171106400-171110400	Enhancers	Adipose Nuclei	Adipose
14	chr1:171106600-171107200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:171106600-171107200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:171106600-171107200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:171106800-171109000	Weak transcription	Fetal Intestine Small	intestine

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