Variant report

Variant	rs7598538
Chromosome Location	chr2:56674775-56674776
allele	A/T
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:32)

rs_ID	r²[population]
rs10174257	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184667	0.92[EUR][1000 genomes]
rs1030333	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1030334	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11125631	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1157475	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11688894	0.84[EUR][1000 genomes]
rs11885335	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903884	0.84[EUR][1000 genomes]
rs13396394	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13397156	0.96[EUR][1000 genomes]
rs1465359	0.88[EUR][1000 genomes]
rs1465360	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1465362	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1465363	0.92[EUR][1000 genomes]
rs17047946	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17047952	0.83[EUR][1000 genomes]
rs17047955	0.96[EUR][1000 genomes]
rs2033015	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2160707	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2193484	0.80[EUR][1000 genomes]
rs2193486	0.96[EUR][1000 genomes]
rs2193487	0.96[EUR][1000 genomes]
rs2869810	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2869827	0.84[EUR][1000 genomes]
rs2869828	0.84[EUR][1000 genomes]
rs6753780	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72618680	0.87[ASN][1000 genomes]
rs7587750	0.84[EUR][1000 genomes]
rs956157	0.98[EUR][1000 genomes]
rs986787	0.82[EUR][1000 genomes]
rs986788	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834093	chr2:56538097-56708677	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1004449	chr2:56538460-56715861	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv874171	chr2:56545845-56727178	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv522944	chr2:56603985-56676997	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv874172	chr2:56638856-56811749	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2757800	chr2:56659685-56851198	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2759052	chr2:56659685-56851198	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 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	chr2:56672000-56675000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:56672000-56675200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:56672000-56675600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:56672000-56675800	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:56672200-56675200	Weak transcription	Psoas Muscle	Psoas
6	chr2:56672200-56675400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:56672200-56675600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:56672200-56675600	Weak transcription	Stomach Mucosa	stomach
9	chr2:56672200-56675800	Weak transcription	Gastric	stomach
10	chr2:56674400-56676400	Enhancers	Fetal Intestine Small	intestine
11	chr2:56674400-56678200	Enhancers	Fetal Intestine Large	intestine
12	chr2:56674600-56675400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:56674600-56676600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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