Variant report

Variant	rs599271
Chromosome Location	chr11:107534817-107534818
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	chr11:107533663..107536332-chr11:107539088..107541417,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1545826	0.85[ASN][1000 genomes]
rs1680251	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107305	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790139	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1790140	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2509193	0.87[ASN][1000 genomes]
rs2509195	0.85[ASN][1000 genomes]
rs28716708	0.85[ASN][1000 genomes]
rs4448664	0.85[ASN][1000 genomes]
rs474459	0.87[ASN][1000 genomes]
rs474480	0.87[ASN][1000 genomes]
rs475875	0.88[ASN][1000 genomes]
rs477835	0.88[ASN][1000 genomes]
rs482353	0.85[ASN][1000 genomes]
rs486531	0.88[ASN][1000 genomes]
rs490626	0.84[ASN][1000 genomes]
rs493770	0.87[ASN][1000 genomes]
rs498880	0.95[ASN][1000 genomes]
rs521030	0.86[ASN][1000 genomes]
rs524611	0.86[ASN][1000 genomes]
rs525584	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs526291	0.88[ASN][1000 genomes]
rs526626	0.85[ASN][1000 genomes]
rs527167	0.88[ASN][1000 genomes]
rs527296	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs531608	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs550104	0.88[ASN][1000 genomes]
rs550514	0.85[ASN][1000 genomes]
rs552215	0.88[ASN][1000 genomes]
rs559126	0.87[ASN][1000 genomes]
rs561617	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591697	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs595138	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60752013	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs607867	0.87[ASN][1000 genomes]
rs612205	0.88[ASN][1000 genomes]
rs627021	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647756	0.88[ASN][1000 genomes]
rs654783	0.85[ASN][1000 genomes]
rs655594	0.85[ASN][1000 genomes]
rs661269	0.86[ASN][1000 genomes]
rs665357	0.84[ASN][1000 genomes]
rs669035	0.85[ASN][1000 genomes]
rs677782	0.88[ASN][1000 genomes]
rs679748	0.86[ASN][1000 genomes]
rs694990	0.94[ASN][1000 genomes]
rs73557781	0.98[ASN][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	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1039425	chr11:107468681-107895836	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv427899	chr11:107471544-107805894	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv468866	chr11:107472733-107566585	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv556377	chr11:107472733-107566585	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2422201	chr11:107479362-107555825	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1052198	chr11:107509918-107684371	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107513000-107535400	Weak transcription	Brain Anterior Caudate	brain
2	chr11:107520200-107535200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:107526800-107535400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr11:107526800-107537200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:107530600-107537000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:107531600-107535200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:107532800-107535000	Weak transcription	HSMMtube	muscle
8	chr11:107532800-107535400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:107534600-107535000	Enhancers	Fetal Muscle Leg	muscle
10	chr11:107534600-107535400	Enhancers	HSMM	muscle
11	chr11:107534800-107535400	Weak transcription	Fetal Brain Female	brain
12	chr11:107534800-107542600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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