Variant report

Variant	rs4944523
Chromosome Location	chr11:85266321-85266322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1046216	0.95[CHB][hapmap];0.90[CHD][hapmap];0.89[YRI][hapmap]
rs11603256	0.83[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[LWK][hapmap];0.87[MEX][hapmap];0.88[MKK][hapmap];0.81[TSI][hapmap];0.82[YRI][hapmap]
rs11606688	0.80[EUR][1000 genomes]
rs11821005	0.87[ASN][1000 genomes]
rs1213257	0.92[ASN][1000 genomes]
rs1237203	1.00[CHB][hapmap]
rs1354397	0.81[CHB][hapmap]
rs1425223	0.84[AFR][1000 genomes]
rs1504029	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1847433	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs188255	0.87[ASN][1000 genomes]
rs2081445	0.94[ASN][1000 genomes]
rs2196168	0.83[ASW][hapmap];1.00[CHB][hapmap];0.80[CHD][hapmap];0.85[LWK][hapmap];0.89[YRI][hapmap]
rs2290823	0.88[ASW][hapmap];0.80[MKK][hapmap];0.86[YRI][hapmap]
rs2840343	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs286500	0.88[ASN][1000 genomes]
rs286506	0.87[ASN][1000 genomes]
rs286507	0.84[ASN][1000 genomes]
rs286511	0.86[ASN][1000 genomes]
rs286528	0.88[ASN][1000 genomes]
rs290173	0.86[CHB][hapmap]
rs290179	0.82[CHB][hapmap]
rs290180	0.86[CHB][hapmap]
rs290183	1.00[CHB][hapmap];0.86[YRI][hapmap]
rs290184	0.83[ASW][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.81[LWK][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap]
rs290185	1.00[CHB][hapmap];0.85[CHD][hapmap];0.83[YRI][hapmap]
rs290190	0.91[CHB][hapmap]
rs290195	0.90[CHB][hapmap]
rs290200	0.86[CHB][hapmap]
rs290202	0.91[CHB][hapmap]
rs370385	1.00[CHB][hapmap];0.82[YRI][hapmap]
rs3753050	0.83[ASW][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.82[LWK][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap]
rs3781815	1.00[CHB][hapmap]
rs3824956	0.83[ASW][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.87[LWK][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap]
rs3862782	0.83[ASW][hapmap];1.00[CHB][hapmap];0.80[CHD][hapmap];0.89[YRI][hapmap]
rs4015271	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4301809	0.84[ASN][1000 genomes]
rs431606	0.86[CHB][hapmap]
rs491867	0.86[CHB][hapmap]
rs4943922	0.97[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4943923	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4944526	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs496187	0.81[CHB][hapmap]
rs552013	0.82[ASN][1000 genomes]
rs554536	0.86[ASN][1000 genomes]
rs55739259	0.85[AFR][1000 genomes]
rs55841425	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56738052	0.85[ASN][1000 genomes]
rs57245119	0.97[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs57296431	0.82[ASN][1000 genomes]
rs575050	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs57549298	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs589327	0.84[CHB][hapmap]
rs592460	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs61114547	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61567739	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs631410	0.81[CHB][hapmap]
rs647912	0.81[CHB][hapmap]
rs679204	0.81[CHB][hapmap]
rs680498	0.81[CHB][hapmap]
rs7107788	0.83[ASW][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.82[LWK][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap]
rs7113528	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7116195	0.83[ASW][hapmap];1.00[CHB][hapmap];0.80[CHD][hapmap];0.84[LWK][hapmap];0.89[YRI][hapmap]
rs7119617	0.86[YRI][hapmap]
rs7122887	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7925739	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7940714	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7943586	0.88[ASW][hapmap];0.81[MKK][hapmap];0.89[YRI][hapmap]
rs7948778	0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs7949567	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs881120	1.00[CHB][hapmap];0.92[CHD][hapmap];0.84[LWK][hapmap];0.93[YRI][hapmap];0.82[ASN][1000 genomes]
rs956202	1.00[CHB][hapmap];0.82[YRI][hapmap]
rs979704	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044370	chr11:84748993-85293233	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	nsv1050363	chr11:85163437-85293233	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv541111	chr11:85163437-85293233	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv898046	chr11:85180409-85300458	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv898047	chr11:85180409-85377707	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
9	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
10	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv898049	chr11:85231475-85292310	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv518780	chr11:85245772-85266793	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
13	esv3463542	chr11:85262872-85274882	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
14	esv3463553	chr11:85262901-85274878	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
15	esv3463564	chr11:85262929-85274858	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
16	esv3463575	chr11:85263028-85274777	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
17	esv2421768	chr11:85263724-85271345	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
18	esv2829954	chr11:85263724-85271345	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
19	nsv555630	chr11:85263724-85271345	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
20	esv32962	chr11:85264773-85272684	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
21	nsv515581	chr11:85266321-85266793	Weak transcription	n/a	n/a	inside rSNPs	diseases
22	nsv555631	chr11:85266321-85271345	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4944523	CCDC83	cis	cerebellum	SCAN
rs4944523	SYTL2	cis	Muscle Skeletal	GTEx
rs4944523	TMEM126B	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85248800-85292000	Weak transcription	Aorta	Aorta
2	chr11:85252200-85266400	Weak transcription	Ovary	ovary
3	chr11:85260400-85266400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:85260400-85268600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:85261400-85284000	Weak transcription	Left Ventricle	heart

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