Variant report

Variant	rs2173725
Chromosome Location	chr19:21627970-21627971
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10403785	0.84[AFR][1000 genomes]
rs10414463	0.85[AFR][1000 genomes]
rs10420451	0.83[AFR][1000 genomes]
rs10426240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11878290	1.00[AMR][1000 genomes]
rs11878313	1.00[AMR][1000 genomes]
rs11878341	1.00[AMR][1000 genomes]
rs11878352	1.00[AMR][1000 genomes]
rs11878379	1.00[AMR][1000 genomes]
rs11878890	1.00[AMR][1000 genomes]
rs11879116	1.00[AMR][1000 genomes]
rs11879186	1.00[AMR][1000 genomes]
rs11880052	1.00[AMR][1000 genomes]
rs11880057	1.00[AMR][1000 genomes]
rs11880270	1.00[AMR][1000 genomes]
rs11880290	1.00[AMR][1000 genomes]
rs11880668	1.00[AMR][1000 genomes]
rs11880717	1.00[AMR][1000 genomes]
rs11882098	1.00[AMR][1000 genomes]
rs11882885	1.00[AMR][1000 genomes]
rs11882927	1.00[AMR][1000 genomes]
rs11883296	1.00[AMR][1000 genomes]
rs1500399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1612863	1.00[AMR][1000 genomes]
rs1613729	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]
rs1678817	1.00[AMR][1000 genomes]
rs1678818	1.00[AMR][1000 genomes]
rs1678819	1.00[AMR][1000 genomes]
rs1678820	1.00[AMR][1000 genomes]
rs1678821	1.00[AMR][1000 genomes]
rs1678823	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]
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	1.00[AMR][1000 genomes]
rs1762574	1.00[AMR][1000 genomes]
rs1762575	1.00[AMR][1000 genomes]
rs1762577	1.00[AMR][1000 genomes]
rs1762588	1.00[AMR][1000 genomes]
rs1762589	1.00[AMR][1000 genomes]
rs1781851	1.00[AMR][1000 genomes]
rs1781852	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]
rs1983017	0.90[AFR][1000 genomes]
rs1983018	0.90[AFR][1000 genomes]
rs1983019	0.90[AFR][1000 genomes]
rs2009347	0.85[AFR][1000 genomes]
rs2013529	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2088760	0.85[AFR][1000 genomes]
rs2105448	1.00[AMR][1000 genomes]
rs2255010	0.84[AFR][1000 genomes]
rs2255100	0.85[AFR][1000 genomes]
rs2537688	1.00[AMR][1000 genomes]
rs2537694	1.00[AMR][1000 genomes]
rs2562418	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562423	1.00[AMR][1000 genomes]
rs2562424	0.82[AFR][1000 genomes]
rs2562425	0.83[AFR][1000 genomes]
rs2562426	1.00[AMR][1000 genomes]
rs2562431	0.81[YRI][hapmap];0.83[AFR][1000 genomes]
rs2562437	0.80[AFR][1000 genomes]
rs2562463	0.81[AFR][1000 genomes]
rs2562475	0.90[AFR][1000 genomes]
rs2562476	0.90[AFR][1000 genomes]
rs2562477	0.90[AFR][1000 genomes]
rs2562478	0.88[AFR][1000 genomes]
rs2562479	0.89[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.86[MKK][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes]
rs2562480	0.90[AFR][1000 genomes]
rs2562481	0.82[AFR][1000 genomes]
rs2562482	0.88[AFR][1000 genomes]
rs2562485	0.85[AFR][1000 genomes]
rs2562486	0.89[ASW][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];0.86[MKK][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes]
rs2562488	0.87[YRI][hapmap];0.88[AFR][1000 genomes]
rs2562489	0.84[AFR][1000 genomes]
rs2562490	0.82[AFR][1000 genomes]
rs2650761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2650762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2650765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2650795	1.00[AMR][1000 genomes]
rs2650796	0.83[AFR][1000 genomes]
rs2650813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2650816	0.84[AFR][1000 genomes]
rs2650818	0.83[AFR][1000 genomes]
rs2650820	0.88[AFR][1000 genomes]
rs2650821	0.88[AFR][1000 genomes]
rs2650822	0.88[AFR][1000 genomes]
rs2650823	0.88[AFR][1000 genomes]
rs2650837	0.85[AFR][1000 genomes]
rs2801870	1.00[AMR][1000 genomes]
rs28580140	0.84[AFR][1000 genomes]
rs28581819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2968077	0.83[AFR][1000 genomes]
rs34447812	1.00[AMR][1000 genomes]
rs34475475	1.00[AMR][1000 genomes]
rs34713529	1.00[AMR][1000 genomes]
rs34806732	1.00[AMR][1000 genomes]
rs35147475	1.00[AMR][1000 genomes]
rs35678983	1.00[AMR][1000 genomes]
rs36151394	1.00[AMR][1000 genomes]
rs36168893	1.00[AMR][1000 genomes]
rs6511266	1.00[AMR][1000 genomes]
rs72620584	1.00[AMR][1000 genomes]
rs7343074	1.00[AMR][1000 genomes]
rs7343111	1.00[AMR][1000 genomes]
rs7343124	1.00[AMR][1000 genomes]
rs7343143	1.00[AMR][1000 genomes]
rs987772	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers 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	31 gene(s)	inside rSNPs	diseases
7	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv138313	chr19:21625797-21628433	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv138282	chr19:21625797-21634841	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21607600-21630200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:21622400-21632600	Weak transcription	Brain Hippocampus Middle	brain
3	chr19:21623200-21630400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:21624600-21636400	Weak transcription	Fetal Kidney	kidney
5	chr19:21625600-21631400	Weak transcription	Ovary	ovary
6	chr19:21626800-21629200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:21627000-21629200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr19:21627000-21629400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr19:21627200-21631600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:21627200-21631600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:21627200-21631600	Weak transcription	Fetal Stomach	stomach
12	chr19:21627800-21628400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:21627800-21628600	Weak transcription	H1 Cell Line	embryonic stem cell

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