Variant report

Variant	rs8107948
Chromosome Location	chr19:44683098-44683099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44681823..44684776-chr19:44686009..44688717,4	K562	blood:
2	chr19:44677371..44678908-chr19:44682158..44685017,2	MCF-7	breast:
3	chr19:44675915..44677580-chr19:44681750..44683462,2	K562	blood:
4	chr19:44682345..44684572-chr19:44687118..44689241,3	K562	blood:
5	chr19:44680640..44683739-chr19:44700164..44703473,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10404357	1.00[EUR][1000 genomes]
rs10404927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10406116	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10406704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10415104	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10416624	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10417182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10423177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11879265	1.00[AMR][1000 genomes]
rs13345528	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16978966	1.00[AMR][1000 genomes]
rs28462219	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28818931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34493848	1.00[AMR][1000 genomes]
rs34863330	1.00[AMR][1000 genomes]
rs57369690	1.00[EUR][1000 genomes]
rs58935748	1.00[AMR][1000 genomes]
rs59897069	1.00[AMR][1000 genomes]
rs60852988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61185843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61233555	1.00[AMR][1000 genomes]
rs73553212	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553253	1.00[EUR][1000 genomes]
rs73555119	1.00[EUR][1000 genomes]
rs73556274	1.00[AMR][1000 genomes]
rs73558239	1.00[EUR][1000 genomes]
rs73558248	1.00[AMR][1000 genomes]
rs73558286	1.00[AMR][1000 genomes]
rs73558298	1.00[AMR][1000 genomes]
rs73558301	1.00[AMR][1000 genomes]
rs73562181	1.00[AMR][1000 genomes]
rs73562187	1.00[AMR][1000 genomes]
rs73562192	1.00[AMR][1000 genomes]
rs73562196	1.00[AMR][1000 genomes]
rs73564027	1.00[EUR][1000 genomes]
rs73564035	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73567972	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73567974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73569942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8113493	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 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	chr19:44670600-44688200	ZNF genes & repeats	Liver	Liver
2	chr19:44670800-44683200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:44675400-44687600	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:44681600-44684800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:44681600-44687800	Weak transcription	Right Ventricle	heart
6	chr19:44681800-44683400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:44681800-44683400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr19:44681800-44684000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:44681800-44684800	Weak transcription	Fetal Brain Male	brain
10	chr19:44681800-44685400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:44682200-44711200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr19:44682400-44704800	Weak transcription	Brain Germinal Matrix	brain
13	chr19:44683000-44683400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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