Variant report

Variant	rs645226
Chromosome Location	chr7:83907367-83907368
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10081337	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10085599	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1015629	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10231889	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10233152	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10260152	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10263842	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11971807	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11979170	0.94[JPT][hapmap]
rs12539919	0.89[JPT][hapmap]
rs1808204	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1989963	0.84[ASN][1000 genomes]
rs2018407	0.84[ASN][1000 genomes]
rs2040696	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2214503	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2372167	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2372168	0.83[ASN][1000 genomes]
rs4607535	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs471152	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs471477	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs488333	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs489440	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs501229	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs512896	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs514083	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs521401	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537358	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs562475	0.88[ASN][1000 genomes]
rs569493	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs584566	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589077	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs592778	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs600346	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614046	0.88[ASN][1000 genomes]
rs671711	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946162	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6964607	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6969121	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs726978	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs727784	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787024	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7794860	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7799452	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7800995	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs811622	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs812780	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9642175	0.89[JPT][hapmap]
rs996033	0.89[JPT][hapmap];0.80[TSI][hapmap]

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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs645226	C7orf23	cis	cerebellum	SCAN
rs645226	GNAI1	cis	cerebellum	SCAN
rs645226	KIAA1324L	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83894200-83924000	Weak transcription	NHDF-Ad	bronchial
2	chr7:83901400-83910600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:83903400-83908200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:83903800-83907400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:83903800-83911400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:83905800-83907400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:83905800-83907400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:83905800-83908200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:83906000-83907600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:83906200-83907800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:83906200-83908200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:83906200-83908200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:83906400-83907800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:83906800-83907600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:83907000-83908200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:83907200-83907600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr7:83907200-83908200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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