Variant report

No.	Distal block	Cell Line	Cell type
1	chr11:16415811..16418306-chr11:16427496..16429651,2	K562	blood:
2	chr11:16415238..16417760-chr11:16419960..16422065,3	K562	blood:
3	chr11:16362185..16364799-chr11:16415077..16417041,2	K562	blood:

Variant related genes	Relation type
ENSG00000110693	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1503442	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16933090	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61404451	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61469208	0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs73429701	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73431671	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73431673	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73431677	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73431679	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73431686	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73431697	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73433503	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73433517	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73433521	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73433526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73433528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73433538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73433558	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73433560	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7925853	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7938702	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529731	chr11:16122782-16468170	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv832075	chr11:16391700-16490934	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16409000-16419200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:16410000-16418800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:16415200-16419400	Weak transcription	Small Intestine	intestine
4	chr11:16415400-16424400	Weak transcription	Fetal Heart	heart
5	chr11:16416000-16419200	Active TSS	Fetal Intestine Large	intestine
6	chr11:16416200-16419200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr11:16416400-16417000	Enhancers	Fetal Kidney	kidney
8	chr11:16416400-16418800	Enhancers	Liver	Liver
9	chr11:16416400-16419200	Active TSS	Fetal Intestine Small	intestine
10	chr11:16416600-16417000	Enhancers	HepG2	liver
11	chr11:16416600-16417200	Enhancers	K562	blood
12	chr11:16416600-16418000	Enhancers	Brain Germinal Matrix	brain
13	chr11:16416600-16419400	Active TSS	Duodenum Mucosa	Duodenum
14	chr11:16416800-16417200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr11:16416800-16417400	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr11:16416800-16418200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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