Variant report

Variant	rs73185120
Chromosome Location	chr7:83903085-83903086
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1006795	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10224865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10256270	0.86[ASN][1000 genomes]
rs10258884	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10264700	0.88[EUR][1000 genomes]
rs12333631	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1356804	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158818	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17158848	0.85[ASN][1000 genomes]
rs28397702	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28884542	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58835109	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6949774	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6953184	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6972377	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6978737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179400	0.88[ASN][1000 genomes]
rs73181306	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73181369	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73181375	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73181392	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73183125	0.97[EUR][1000 genomes]
rs73185111	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73185127	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73185135	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73189024	0.83[ASN][1000 genomes]
rs73189039	0.85[ASN][1000 genomes]
rs7802925	0.93[EUR][1000 genomes]
rs9642178	0.86[ASN][1000 genomes]
rs977752	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv5818	chr7:83874968-83919804	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83894200-83924000	Weak transcription	NHDF-Ad	bronchial
2	chr7:83894600-83903400	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:83899800-83903600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:83901400-83910600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:83902000-83904000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:83902600-83903400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:83902600-83903800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:83902600-83903800	Enhancers	Fetal Heart	heart
9	chr7:83902800-83903800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:83903000-83903200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:83903000-83903800	Enhancers	HUES48 Cell Line	embryonic stem cell

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