Variant report

Variant	rs6847168
Chromosome Location	chr4:88339059-88339060
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	chr4:88331097..88333648-chr4:88336719..88339315,2	K562	blood:
2	chr4:88331097..88333648-chr4:88336348..88339315,3	K562	blood:

Variant related genes	Relation type
ENSG00000249262	Chromatin interaction
ENSG00000251716	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10008963	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10009776	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10015443	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10017282	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10034240	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10213468	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11097151	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13119798	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13122902	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28439403	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4388049	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6531987	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6531988	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6531994	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6531995	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6531997	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67796586	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6816136	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7666886	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7673045	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7695235	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307036	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9968511	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription 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 miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88329600-88342600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:88331800-88340400	Weak transcription	Stomach Mucosa	stomach
3	chr4:88332400-88339400	Weak transcription	Fetal Intestine Large	intestine
4	chr4:88334600-88342800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:88336400-88340600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr4:88337200-88340600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:88337400-88340600	Enhancers	Liver	Liver
8	chr4:88337800-88340400	Enhancers	HepG2	liver
9	chr4:88338200-88340400	Weak transcription	A549	lung
10	chr4:88338400-88340600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr4:88338600-88340400	Weak transcription	Duodenum Mucosa	Duodenum

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