Variant report

Variant	rs55984124
Chromosome Location	chr7:78344109-78344110
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10228359	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10228963	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10229438	0.92[EUR][1000 genomes]
rs10229458	0.92[EUR][1000 genomes]
rs10230190	0.92[EUR][1000 genomes]
rs10230478	0.92[EUR][1000 genomes]
rs10230501	0.92[EUR][1000 genomes]
rs10231465	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10233033	0.92[EUR][1000 genomes]
rs10243772	0.92[EUR][1000 genomes]
rs10243883	0.92[EUR][1000 genomes]
rs10256389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10272085	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10273632	0.92[EUR][1000 genomes]
rs10953681	0.92[EUR][1000 genomes]
rs10953687	0.89[EUR][1000 genomes]
rs11760430	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763541	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11764280	0.80[EUR][1000 genomes]
rs11768142	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768372	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11768397	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11770561	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770565	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11772790	0.92[EUR][1000 genomes]
rs11773249	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12530747	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12530771	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12530773	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12530792	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12531353	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12531547	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12531558	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12533182	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12533194	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12533269	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12533873	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12534669	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12534800	0.87[EUR][1000 genomes]
rs12535118	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536628	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536952	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536959	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12537842	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12538687	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12538706	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12539657	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12540478	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12540572	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12540597	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12669245	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13240011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1496765	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28502814	0.87[EUR][1000 genomes]
rs28565439	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28650857	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35895217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55669940	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55827541	0.92[EUR][1000 genomes]
rs56161537	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56165236	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56277847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66495951	0.89[EUR][1000 genomes]
rs6946747	0.92[EUR][1000 genomes]
rs6953739	0.92[EUR][1000 genomes]
rs73135509	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73135518	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73135526	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73145166	0.87[EUR][1000 genomes]
rs73145170	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73145178	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73145192	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73145196	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73145199	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73147023	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73147024	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73147031	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73147034	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73147035	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73147039	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73147058	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149076	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149082	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73149083	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149085	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73149086	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73150705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73150708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73150717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73150732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73150760	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73150764	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73150767	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73150783	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73150785	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73150787	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73150791	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73150794	0.92[EUR][1000 genomes]
rs73152411	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73152421	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73152427	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73152434	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73152443	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73152448	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1019355	chr7:78319575-78399845	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv607657	chr7:78329795-78483211	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78341200-78346800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:78341400-78344600	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr7:78341400-78345400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:78341800-78344800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:78342200-78346000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:78342800-78344200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:78342800-78344200	Enhancers	Brain Angular Gyrus	brain
8	chr7:78342800-78344400	Enhancers	Brain Anterior Caudate	brain
9	chr7:78343000-78344200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:78343000-78344600	Enhancers	Brain Cingulate Gyrus	brain
11	chr7:78343200-78344600	Enhancers	Fetal Brain Male	brain
12	chr7:78343400-78344200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:78343400-78344200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:78343600-78344200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr7:78343600-78344400	Enhancers	Brain Substantia Nigra	brain
16	chr7:78343600-78346600	Weak transcription	Pancreas	Pancrea
17	chr7:78343600-78347600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:78343800-78344400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:78343800-78344600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:78343800-78344600	Enhancers	Brain Hippocampus Middle	brain
21	chr7:78344000-78345200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr7:78344000-78346000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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