Variant report

Variant	rs1320974
Chromosome Location	chr1:169022617-169022618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1040506	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1200089	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1200092	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1200097	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1200099	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1200103	0.84[EUR][1000 genomes]
rs1200105	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap];0.86[TSI][hapmap]
rs1200108	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs1200114	0.92[CEU][hapmap]
rs1200115	1.00[ASW][hapmap];0.88[CEU][hapmap];0.84[GIH][hapmap];0.89[MEX][hapmap]
rs1320973	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap]
rs1575041	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1575042	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2982459	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2982461	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3007364	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3007369	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3007370	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656175	0.83[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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv831858	chr1:169022383-169179068	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169011800-169028800	Weak transcription	Psoas Muscle	Psoas
2	chr1:169021200-169023200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:169021400-169022800	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr1:169021600-169022800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:169022000-169022800	Enhancers	Fetal Intestine Large	intestine
6	chr1:169022400-169022800	Enhancers	Colonic Mucosa	Colon
7	chr1:169022600-169023000	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr1:169022600-169023400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr1:169022600-169024600	Weak transcription	Small Intestine	intestine
10	chr1:169022600-169028000	Weak transcription	Stomach Mucosa	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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