Variant report

Variant	rs41945
Chromosome Location	chr7:117961810-117961811
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10085904	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs10226152	0.80[EUR][1000 genomes]
rs10227326	0.80[EUR][1000 genomes]
rs10229589	0.80[EUR][1000 genomes]
rs10252627	0.87[EUR][1000 genomes]
rs10267938	0.82[EUR][1000 genomes]
rs10487390	0.80[EUR][1000 genomes]
rs10487393	1.00[YRI][hapmap]
rs1054032	0.91[CEU][hapmap];0.85[CHB][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes]
rs1061731	0.91[CEU][hapmap];0.84[CHB][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes]
rs10953864	0.84[EUR][1000 genomes]
rs11486992	0.91[CEU][hapmap];0.94[GIH][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes]
rs11487110	0.81[CEU][hapmap]
rs11761947	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11768889	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11979012	0.91[CEU][hapmap];0.81[CHB][hapmap];0.94[GIH][hapmap];0.91[TSI][hapmap]
rs12537795	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes]
rs13224397	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13224733	0.82[EUR][1000 genomes]
rs13236353	0.83[ASN][1000 genomes]
rs17584234	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17584359	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs194577	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs194578	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs194579	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2058417	0.82[EUR][1000 genomes]
rs2058418	0.84[CEU][hapmap]
rs20598	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2109858	1.00[YRI][hapmap]
rs2192233	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2402322	0.80[EUR][1000 genomes]
rs2402359	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2896242	0.87[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes]
rs34029977	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34847140	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35382009	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41900	0.82[EUR][1000 genomes]
rs41901	0.82[EUR][1000 genomes]
rs41902	0.82[EUR][1000 genomes]
rs41905	0.82[EUR][1000 genomes]
rs41906	0.81[EUR][1000 genomes]
rs41909	0.82[EUR][1000 genomes]
rs41910	0.84[EUR][1000 genomes]
rs41911	0.84[EUR][1000 genomes]
rs41915	0.85[EUR][1000 genomes]
rs41916	0.85[EUR][1000 genomes]
rs41926	0.85[EUR][1000 genomes]
rs41933	0.88[EUR][1000 genomes]
rs41934	0.89[EUR][1000 genomes]
rs41935	0.89[EUR][1000 genomes]
rs41938	0.89[EUR][1000 genomes]
rs41939	0.89[EUR][1000 genomes]
rs41946	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41947	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41948	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41949	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41950	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41951	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41952	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41953	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41954	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41955	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41956	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41957	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41958	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41959	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41960	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs41961	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41963	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41964	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41966	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41967	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41968	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41969	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41970	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41977	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41978	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41979	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41980	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41982	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41983	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41984	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41985	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41986	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41987	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41988	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41990	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41991	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41993	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41994	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41995	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41996	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41997	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs42234	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs42376	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4727865	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5002233	0.80[EUR][1000 genomes]
rs68189275	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6942513	0.91[CEU][hapmap];0.90[CHB][hapmap]
rs6944524	0.80[EUR][1000 genomes]
rs6946855	0.91[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs6948096	0.80[EUR][1000 genomes]
rs6956486	0.84[EUR][1000 genomes]
rs6964911	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs6965144	0.80[EUR][1000 genomes]
rs7779933	0.83[EUR][1000 genomes]
rs7786233	0.81[CEU][hapmap]
rs7796145	0.80[EUR][1000 genomes]
rs7796148	0.80[EUR][1000 genomes]
rs7797855	0.80[EUR][1000 genomes]
rs7799229	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7805314	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs881802	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs917761	0.85[EUR][1000 genomes]
rs9655829	0.91[CEU][hapmap];0.85[CHB][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes]
rs9656260	0.84[EUR][1000 genomes]
rs979652	0.83[CEU][hapmap];0.85[CHB][hapmap];0.94[GIH][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes]
rs992035	0.87[CEU][hapmap]
rs996726	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv889090	chr7:117865940-118067460	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv889091	chr7:117899190-117963926	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1029103	chr7:117917362-118035987	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2764014	chr7:117917374-118035999	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv608261	chr7:117917719-117965390	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv608262	chr7:117926753-118036133	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv429805	chr7:117940049-118026049	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv1804964	chr7:117960973-118188573	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs41945	ANKRD7	cis	parietal	SCAN
rs41945	ANKRD7	cis	cerebellum	SCAN
rs41945	LSM8	cis	multi-tissue	Pritchard
rs41945	NAA38	cis	lymphoblastoid	seeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117960800-117962000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:117961400-117968800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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