Variant report

Variant	rs12094140
Chromosome Location	chr1:174416141-174416142
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	chr1:174411537..174416184-chr1:174417800..174420410,5	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10489257	1.00[EUR][1000 genomes]
rs10489262	0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs10912748	1.00[EUR][1000 genomes]
rs10912752	1.00[TSI][hapmap]
rs10912760	1.00[EUR][1000 genomes]
rs10912767	1.00[EUR][1000 genomes]
rs10912768	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912783	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912784	1.00[EUR][1000 genomes]
rs10912785	1.00[EUR][1000 genomes]
rs10912788	1.00[EUR][1000 genomes]
rs10912790	1.00[EUR][1000 genomes]
rs10912792	0.94[ASW][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes]
rs10912794	0.90[AFR][1000 genomes]
rs10912801	1.00[TSI][hapmap]
rs10912808	0.81[AFR][1000 genomes]
rs12057220	1.00[EUR][1000 genomes]
rs12059051	1.00[ASW][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12059636	1.00[EUR][1000 genomes]
rs12059902	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064144	0.85[AFR][1000 genomes]
rs12066028	1.00[EUR][1000 genomes]
rs12066736	0.91[YRI][hapmap];0.91[AFR][1000 genomes]
rs12067445	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12067772	0.91[AFR][1000 genomes]
rs12069450	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12070328	1.00[EUR][1000 genomes]
rs12070505	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs12071243	1.00[ASW][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12073453	1.00[EUR][1000 genomes]
rs12075085	1.00[EUR][1000 genomes]
rs12075213	0.94[ASW][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs12075263	1.00[ASW][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12075962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12076425	1.00[EUR][1000 genomes]
rs12078222	1.00[EUR][1000 genomes]
rs12081444	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12082017	1.00[EUR][1000 genomes]
rs12083355	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090908	1.00[EUR][1000 genomes]
rs12092811	0.94[ASW][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs12094364	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12096718	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12354281	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1467397	1.00[EUR][1000 genomes]
rs16846878	1.00[EUR][1000 genomes]
rs17838246	1.00[TSI][hapmap]
rs3123641	0.83[LWK][hapmap];1.00[TSI][hapmap]
rs35582650	0.81[AFR][1000 genomes]
rs392368	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs6682041	1.00[EUR][1000 genomes]
rs7525430	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1799250	chr1:174119038-174484277	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv1800060	chr1:174132703-174501836	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv465672	chr1:174133251-174469905	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv548194	chr1:174133251-174469905	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv470746	chr1:174150850-174469905	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1010069	chr1:174215293-174539512	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1014753	chr1:174271770-174694838	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv872555	chr1:174343705-174565720	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv1003113	chr1:174367687-174499155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv535209	chr1:174367687-174499155	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174381200-174438800	Weak transcription	Primary B cells from cord blood	blood
2	chr1:174400400-174417200	Weak transcription	Primary T cells from cord blood	blood
3	chr1:174411400-174417400	Weak transcription	GM12878-XiMat	blood
4	chr1:174413800-174417200	Weak transcription	Pancreas	Pancrea
5	chr1:174413800-174419400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:174414200-174417200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr1:174415000-174416400	Active TSS	Fetal Brain Female	brain
8	chr1:174415000-174417200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:174415000-174418400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:174415400-174416600	Weak transcription	Ovary	ovary
11	chr1:174415400-174417200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:174415400-174417200	Weak transcription	Brain Anterior Caudate	brain
13	chr1:174415400-174417200	Weak transcription	Left Ventricle	heart
14	chr1:174415400-174417600	Weak transcription	Right Atrium	heart
15	chr1:174415400-174418200	Weak transcription	Gastric	stomach
16	chr1:174415400-174419400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:174415400-174420600	Weak transcription	Psoas Muscle	Psoas
18	chr1:174415400-174444800	Weak transcription	Aorta	Aorta
19	chr1:174415600-174417200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:174415600-174417200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:174415600-174417200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:174415800-174418400	Weak transcription	Fetal Brain Male	brain
23	chr1:174416000-174417200	Weak transcription	Brain Angular Gyrus	brain

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