Variant report

Variant	rs9997116
Chromosome Location	chr4:30934794-30934795
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10000401	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10013694	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10805300	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10939317	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10939318	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11735048	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12512796	0.83[EUR][1000 genomes]
rs13120686	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13127450	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13151051	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28670870	0.82[EUR][1000 genomes]
rs4075130	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4235013	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4235014	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4235015	0.85[EUR][1000 genomes]
rs4259023	0.86[EUR][1000 genomes]
rs4260492	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4261943	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4266255	0.86[EUR][1000 genomes]
rs4337695	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4469028	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4487300	0.82[EUR][1000 genomes]
rs4491979	0.85[EUR][1000 genomes]
rs4557225	0.86[EUR][1000 genomes]
rs4692107	0.84[EUR][1000 genomes]
rs4692490	0.83[EUR][1000 genomes]
rs5001866	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6840698	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7658077	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7661924	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7662881	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7669015	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7673048	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7683848	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7683968	0.85[EUR][1000 genomes]
rs7696462	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9685207	0.85[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	nsv878810	chr4:30823157-30987395	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30914200-30947200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:30914400-30940600	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:30920600-30947400	Weak transcription	Fetal Stomach	stomach
4	chr4:30922000-30935800	Weak transcription	Aorta	Aorta
5	chr4:30928600-30997400	Weak transcription	Fetal Lung	lung
6	chr4:30930400-30938400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:30932000-30935600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:30932000-30939800	Weak transcription	Fetal Heart	heart
9	chr4:30932800-30940600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:30933800-30935800	Enhancers	Fetal Intestine Small	intestine
11	chr4:30934000-30935800	Enhancers	Fetal Intestine Large	intestine
12	chr4:30934200-30935200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:30934400-30935200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:30934400-30939800	Weak transcription	Rectal Mucosa Donor 29	rectum

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