Variant report

Variant	rs10488592
Chromosome Location	chr7:83944353-83944354
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1520108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158706	0.92[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17158709	0.83[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17158741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17158816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17158826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2189117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35548191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41391055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs41456548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41457445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4546586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59693860	1.00[AFR][1000 genomes];0.83[AMR][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	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2754468	chr7:83851249-84166749	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1793815	chr7:83909503-83997755	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv524905	chr7:83911271-83944506	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv888631	chr7:83911271-84010005	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83930800-83950000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:83942400-83947000	Active TSS	Stomach Smooth Muscle	stomach
3	chr7:83942800-83946800	Active TSS	Colon Smooth Muscle	Colon
4	chr7:83943400-83946600	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr7:83943600-83946800	Active TSS	Rectal Smooth Muscle	rectum
6	chr7:83944200-83945600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:83944200-83945800	Weak transcription	NHDF-Ad	bronchial

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