Variant report

Variant	rs72949443
Chromosome Location	chr11:85655445-85655446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85650684..85656124-chr11:85659031..85663462,6	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10128700	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10501603	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10501605	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10501607	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10898431	0.85[EUR][1000 genomes]
rs11234489	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11234492	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11234496	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11234502	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11234512	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11234513	0.94[EUR][1000 genomes]
rs11234517	0.95[EUR][1000 genomes]
rs12270433	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12278260	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12279956	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12281494	0.83[EUR][1000 genomes]
rs12281958	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12282655	0.88[EUR][1000 genomes]
rs12287170	0.95[EUR][1000 genomes]
rs1596739	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17744938	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17745105	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17745153	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17745236	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17745248	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17745273	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17817582	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17817588	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17817690	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17817859	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17817883	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17817919	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17817956	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2001241	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2084077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41381550	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4943934	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4943936	0.87[AMR][1000 genomes]
rs4943937	0.83[EUR][1000 genomes]
rs4944550	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4944551	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4944552	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4944553	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4944554	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4944555	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4944556	0.83[EUR][1000 genomes]
rs55697624	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55791429	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55815523	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56026701	0.91[EUR][1000 genomes]
rs56187740	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57125313	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58937798	0.91[EUR][1000 genomes]
rs60185300	0.82[AMR][1000 genomes]
rs72947601	0.82[AMR][1000 genomes]
rs72949419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72949429	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72950443	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72950453	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72950456	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72951266	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72951268	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72959177	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72959197	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72959906	0.83[EUR][1000 genomes]
rs72961110	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72961111	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72963077	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72963086	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72963092	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72965157	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72965166	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7927222	0.82[AMR][1000 genomes]
rs7943152	0.83[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	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
2	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
3	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1048818	chr11:85524635-85746473	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv541116	chr11:85524635-85746473	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1053808	chr11:85588919-85757693	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1053599	chr11:85641619-85684353	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv1040567	chr11:85641619-85684935	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85646000-85656600	Weak transcription	Right Atrium	heart
2	chr11:85646600-85660000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:85646600-85667400	Weak transcription	Gastric	stomach
4	chr11:85651000-85656600	Weak transcription	HepG2	liver
5	chr11:85651000-85657000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:85651200-85657000	Weak transcription	Liver	Liver
7	chr11:85652800-85664400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:85652800-85668800	Weak transcription	Small Intestine	intestine
9	chr11:85653000-85656400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:85653000-85657000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:85653000-85657000	Weak transcription	Brain Angular Gyrus	brain
12	chr11:85653000-85657400	Weak transcription	Osteobl	bone
13	chr11:85653000-85657800	Weak transcription	Ovary	ovary
14	chr11:85653000-85658200	Weak transcription	Left Ventricle	heart
15	chr11:85653000-85658400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:85653200-85656400	Weak transcription	Primary T cells from cord blood	blood
17	chr11:85653800-85656800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:85653800-85656800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:85654200-85658400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:85655000-85656000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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