Variant report

Variant	rs1678817
Chromosome Location	chr19:21469481-21469482
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10426240	1.00[AMR][1000 genomes]
rs1500399	1.00[AMR][1000 genomes]
rs1612863	1.00[AMR][1000 genomes]
rs1613729	1.00[AMR][1000 genomes]
rs1617506	1.00[AMR][1000 genomes]
rs1618904	1.00[AMR][1000 genomes]
rs1619077	1.00[AMR][1000 genomes]
rs1620666	1.00[AMR][1000 genomes]
rs1620856	1.00[AMR][1000 genomes]
rs1630930	1.00[AMR][1000 genomes]
rs1645802	1.00[AMR][1000 genomes]
rs1645803	1.00[AMR][1000 genomes]
rs1645805	1.00[AMR][1000 genomes]
rs1678818	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1678819	1.00[AMR][1000 genomes]
rs1678820	1.00[AMR][1000 genomes]
rs1678821	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1678823	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1678824	1.00[AMR][1000 genomes]
rs1678826	1.00[AMR][1000 genomes]
rs1678827	1.00[AMR][1000 genomes]
rs1678828	1.00[AMR][1000 genomes]
rs1678829	1.00[AMR][1000 genomes]
rs1678830	1.00[AMR][1000 genomes]
rs1762551	1.00[AMR][1000 genomes]
rs1762552	1.00[AMR][1000 genomes]
rs1762553	1.00[AMR][1000 genomes]
rs1762557	1.00[AMR][1000 genomes]
rs1762558	1.00[AMR][1000 genomes]
rs1762567	1.00[AMR][1000 genomes]
rs1762568	1.00[AMR][1000 genomes]
rs1762570	1.00[AMR][1000 genomes]
rs1762571	1.00[AMR][1000 genomes]
rs1762572	1.00[AMR][1000 genomes]
rs1762573	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1762574	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1762575	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1762577	1.00[AMR][1000 genomes]
rs1762581	1.00[AMR][1000 genomes]
rs1762582	1.00[AMR][1000 genomes]
rs1762584	1.00[AMR][1000 genomes]
rs1762586	1.00[AMR][1000 genomes]
rs1762588	1.00[AMR][1000 genomes]
rs1762589	1.00[AMR][1000 genomes]
rs1762593	1.00[AMR][1000 genomes]
rs1781843	1.00[AMR][1000 genomes]
rs1781851	1.00[AMR][1000 genomes]
rs1781852	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1781855	1.00[AMR][1000 genomes]
rs1781858	1.00[AMR][1000 genomes]
rs1781864	1.00[AMR][1000 genomes]
rs1781866	1.00[AMR][1000 genomes]
rs1781868	1.00[AMR][1000 genomes]
rs1781869	1.00[AMR][1000 genomes]
rs1781870	1.00[AMR][1000 genomes]
rs1781871	1.00[AMR][1000 genomes]
rs1781876	1.00[AMR][1000 genomes]
rs1781877	1.00[AMR][1000 genomes]
rs1781878	1.00[AMR][1000 genomes]
rs1781881	1.00[AMR][1000 genomes]
rs1781885	1.00[AMR][1000 genomes]
rs1781889	1.00[AMR][1000 genomes]
rs1781891	1.00[AMR][1000 genomes]
rs1781892	1.00[AMR][1000 genomes]
rs1781894	1.00[AMR][1000 genomes]
rs2013529	1.00[AMR][1000 genomes]
rs2105448	1.00[AMR][1000 genomes]
rs2173725	1.00[AMR][1000 genomes]
rs2537688	1.00[AMR][1000 genomes]
rs2537694	1.00[AMR][1000 genomes]
rs2562418	1.00[AMR][1000 genomes]
rs2562423	1.00[AMR][1000 genomes]
rs2562426	1.00[AMR][1000 genomes]
rs2650761	1.00[AMR][1000 genomes]
rs2650762	1.00[AMR][1000 genomes]
rs2650765	1.00[AMR][1000 genomes]
rs2650795	1.00[AMR][1000 genomes]
rs2650813	1.00[AMR][1000 genomes]
rs2801870	1.00[AMR][1000 genomes]
rs28581819	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv578950	chr19:21388995-21477431	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv911415	chr19:21388995-21487170	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv911416	chr19:21388995-21548211	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv911417	chr19:21388995-21564001	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv911419	chr19:21391844-21487170	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv911420	chr19:21454672-21613397	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	esv2762027	chr19:21465718-21474111	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21465000-21496000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:21465400-21484600	ZNF genes & repeats	Liver	Liver
3	chr19:21467000-21472800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr19:21467200-21470000	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:21467200-21489600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:21468000-21474200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:21468600-21472800	Weak transcription	Left Ventricle	heart
8	chr19:21469400-21470000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
9	chr19:21469400-21470000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr19:21469400-21472400	Weak transcription	HSMM	muscle
11	chr19:21469400-21474400	Weak transcription	Brain Inferior Temporal Lobe	brain

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