Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:104197118..104199793-chr9:104230175..104232444,2	K562	blood:

Variant related genes	Relation type
ENSG00000225376	Chromatin interaction

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10123064	1.00[AFR][1000 genomes]
rs10989500	1.00[AFR][1000 genomes]
rs10989508	1.00[AFR][1000 genomes]
rs10989509	1.00[AFR][1000 genomes]
rs10989510	1.00[AFR][1000 genomes]
rs10989511	1.00[AFR][1000 genomes]
rs10989514	1.00[AFR][1000 genomes]
rs10989517	1.00[AFR][1000 genomes]
rs12337537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13283255	1.00[AFR][1000 genomes]
rs13289803	1.00[AFR][1000 genomes]
rs13291205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13293022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13297805	1.00[AFR][1000 genomes]
rs17186534	1.00[AFR][1000 genomes]
rs17186933	1.00[AFR][1000 genomes]
rs17772514	1.00[AFR][1000 genomes]
rs17772612	1.00[AFR][1000 genomes]
rs17772672	1.00[AFR][1000 genomes]
rs17772869	1.00[AFR][1000 genomes]
rs17773076	1.00[AFR][1000 genomes]
rs1929492	1.00[AFR][1000 genomes]
rs34664558	1.00[AFR][1000 genomes]
rs35772088	1.00[AFR][1000 genomes]
rs41310087	1.00[AFR][1000 genomes]
rs45455902	1.00[AFR][1000 genomes]
rs71491792	1.00[AFR][1000 genomes]
rs954738	1.00[AFR][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	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
2	nsv893626	chr9:104172936-104324545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv523287	chr9:104191392-104202803	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104195600-104207200	Enhancers	HepG2	liver
2	chr9:104196800-104201600	Enhancers	Stomach Mucosa	stomach
3	chr9:104197000-104211400	Weak transcription	Right Atrium	heart
4	chr9:104197200-104200000	Weak transcription	Colonic Mucosa	Colon
5	chr9:104197200-104203200	Weak transcription	Pancreas	Pancrea
6	chr9:104197200-104204600	Weak transcription	Left Ventricle	heart
7	chr9:104197400-104209600	Enhancers	Fetal Intestine Large	intestine
8	chr9:104198200-104199600	Weak transcription	Colon Smooth Muscle	Colon
9	chr9:104198200-104204600	Enhancers	Fetal Intestine Small	intestine
10	chr9:104198800-104200000	Enhancers	Duodenum Mucosa	Duodenum
11	chr9:104199000-104200800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr9:104199400-104199600	Active TSS	Liver	Liver
13	chr9:104199400-104201800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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