Variant report

Variant	rs12088031
Chromosome Location	chr1:168494241-168494242
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168482813..168484506-chr1:168493897..168495817,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10918889	1.00[EUR][1000 genomes]
rs10918890	1.00[EUR][1000 genomes]
rs10918891	1.00[EUR][1000 genomes]
rs10918892	1.00[EUR][1000 genomes]
rs10918893	1.00[EUR][1000 genomes]
rs10918895	1.00[EUR][1000 genomes]
rs10918896	1.00[EUR][1000 genomes]
rs10918913	1.00[EUR][1000 genomes]
rs10918914	1.00[EUR][1000 genomes]
rs10918915	1.00[EUR][1000 genomes]
rs10918916	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10918918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10918929	1.00[EUR][1000 genomes]
rs12058640	1.00[EUR][1000 genomes]
rs12059095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12059526	1.00[EUR][1000 genomes]
rs12059722	1.00[EUR][1000 genomes]
rs12060094	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12060180	1.00[EUR][1000 genomes]
rs12061311	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12061688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12062599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064517	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12065600	1.00[EUR][1000 genomes]
rs12069600	1.00[EUR][1000 genomes]
rs12071398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12071533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12071580	1.00[EUR][1000 genomes]
rs12071946	1.00[EUR][1000 genomes]
rs12072708	1.00[EUR][1000 genomes]
rs12072756	1.00[EUR][1000 genomes]
rs12073928	1.00[EUR][1000 genomes]
rs12075383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12076618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12078253	1.00[AMR][1000 genomes]
rs12080560	1.00[EUR][1000 genomes]
rs12086182	1.00[EUR][1000 genomes]
rs12087491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088109	0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093899	1.00[EUR][1000 genomes]
rs12095242	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095394	1.00[EUR][1000 genomes]
rs12096533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12096552	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12563551	1.00[EUR][1000 genomes]
rs1323524	1.00[EUR][1000 genomes]
rs16860744	1.00[EUR][1000 genomes]
rs16860745	1.00[EUR][1000 genomes]
rs16860750	1.00[EUR][1000 genomes]
rs16860759	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2092400	1.00[EUR][1000 genomes]
rs28537856	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58887669	1.00[EUR][1000 genomes]
rs60094342	1.00[EUR][1000 genomes]
rs6674956	1.00[EUR][1000 genomes]
rs73027529	1.00[EUR][1000 genomes]
rs73031504	1.00[EUR][1000 genomes]
rs73031508	1.00[EUR][1000 genomes]
rs74120912	1.00[EUR][1000 genomes]
rs74120961	1.00[EUR][1000 genomes]
rs74120963	1.00[EUR][1000 genomes]
rs74120965	1.00[EUR][1000 genomes]
rs74123943	1.00[EUR][1000 genomes]
rs74123944	1.00[EUR][1000 genomes]
rs7526174	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014626	chr1:168441288-168642731	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535196	chr1:168441288-168642731	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1011821	chr1:168441488-168642592	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv535197	chr1:168441488-168642592	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1008852	chr1:168449940-168643905	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv535198	chr1:168449940-168643905	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1007846	chr1:168449940-168687265	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	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

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168492600-168499000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:168492800-168499000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:168493400-168498400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr1:168494000-168494400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:168494000-168499400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:168494000-168499400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:168494200-168494600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:168494200-168494800	Enhancers	HUES48 Cell Line	embryonic stem cell

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