Variant report

Variant	rs6511198
Chromosome Location	chr19:21314452-21314453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21312896..21314771-chr19:21323680..21326350,2	K562	blood:

Variant related genes	Relation type
ENSG00000196705	Chromatin interaction

Extended variants
information (count: 141 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10164375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10401931	0.88[ASN][1000 genomes]
rs10403266	0.83[ASN][1000 genomes]
rs10405180	0.97[ASN][1000 genomes]
rs10405218	0.85[ASN][1000 genomes]
rs10405406	0.91[ASN][1000 genomes]
rs10406661	0.86[ASN][1000 genomes]
rs10409844	0.85[ASN][1000 genomes]
rs10409877	0.97[ASN][1000 genomes]
rs10410901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10411038	0.91[ASN][1000 genomes]
rs10412267	0.88[ASN][1000 genomes]
rs10413175	0.88[ASN][1000 genomes]
rs10413983	0.88[ASN][1000 genomes]
rs10414134	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10421392	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10421819	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10422193	0.81[ASN][1000 genomes]
rs10423541	0.95[ASN][1000 genomes]
rs10424283	0.88[ASN][1000 genomes]
rs10425969	0.85[ASN][1000 genomes]
rs10426773	0.81[AFR][1000 genomes]
rs11085431	0.97[ASN][1000 genomes]
rs11666640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11666869	0.94[ASN][1000 genomes]
rs11667674	1.00[ASN][1000 genomes]
rs11668952	1.00[ASN][1000 genomes]
rs11668985	0.98[ASN][1000 genomes]
rs11670162	0.88[ASN][1000 genomes]
rs11671397	1.00[ASN][1000 genomes]
rs11672142	0.85[ASN][1000 genomes]
rs11672727	1.00[ASN][1000 genomes]
rs11672747	1.00[ASN][1000 genomes]
rs11878599	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12104220	0.88[ASN][1000 genomes]
rs12609005	0.85[ASN][1000 genomes]
rs12609167	0.85[ASN][1000 genomes]
rs12609427	0.90[ASN][1000 genomes]
rs12973640	0.88[ASN][1000 genomes]
rs12973921	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12974016	0.91[ASN][1000 genomes]
rs12981855	0.86[ASN][1000 genomes]
rs1470021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1470022	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1609441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1864208	0.90[AFR][1000 genomes]
rs1968523	0.88[ASN][1000 genomes]
rs2013048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2081054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2082003	0.88[ASN][1000 genomes]
rs2115493	0.94[ASN][1000 genomes]
rs2115494	1.00[ASN][1000 genomes]
rs2115495	1.00[ASN][1000 genomes]
rs2115496	0.80[ASN][1000 genomes]
rs2164988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2164989	0.85[ASN][1000 genomes]
rs2195453	1.00[ASN][1000 genomes]
rs2195454	1.00[ASN][1000 genomes]
rs2358803	1.00[ASN][1000 genomes]
rs2358804	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2884554	0.91[ASN][1000 genomes]
rs35137761	0.91[ASN][1000 genomes]
rs4488591	0.88[ASN][1000 genomes]
rs4808273	0.91[EUR][1000 genomes]
rs4808275	0.91[ASN][1000 genomes]
rs4808276	1.00[ASN][1000 genomes]
rs4809119	0.82[ASN][1000 genomes]
rs4809122	0.94[ASN][1000 genomes]
rs6511183	0.85[ASN][1000 genomes]
rs6511184	0.85[ASN][1000 genomes]
rs6511186	0.88[ASN][1000 genomes]
rs6511187	0.82[ASN][1000 genomes]
rs6511188	0.88[ASN][1000 genomes]
rs6511190	0.80[ASN][1000 genomes]
rs6511191	0.91[ASN][1000 genomes]
rs6511192	0.91[ASN][1000 genomes]
rs6511194	0.91[ASN][1000 genomes]
rs6511195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6511196	0.97[ASN][1000 genomes]
rs6511199	1.00[ASN][1000 genomes]
rs6511200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6511201	1.00[ASN][1000 genomes]
rs7246723	0.88[ASN][1000 genomes]
rs7248410	0.91[ASN][1000 genomes]
rs7249283	0.85[ASN][1000 genomes]
rs7249736	0.88[ASN][1000 genomes]
rs7250169	0.88[ASN][1000 genomes]
rs7251646	0.85[AFR][1000 genomes]
rs7252277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7253950	0.94[ASN][1000 genomes]
rs7254047	0.88[ASN][1000 genomes]
rs7254053	0.86[ASN][1000 genomes]
rs7254768	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7254982	0.86[ASN][1000 genomes]
rs7256576	0.85[AFR][1000 genomes]
rs7257481	0.88[ASN][1000 genomes]
rs7258195	0.88[ASN][1000 genomes]
rs7258409	0.88[ASN][1000 genomes]
rs7259653	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7260268	0.88[ASN][1000 genomes]
rs7260600	0.88[ASN][1000 genomes]
rs7343175	0.94[ASN][1000 genomes]
rs741674	0.94[ASN][1000 genomes]
rs741676	0.94[ASN][1000 genomes]
rs8100289	0.91[ASN][1000 genomes]
rs8100599	0.88[ASN][1000 genomes]
rs8101222	0.97[ASN][1000 genomes]
rs8101412	0.88[ASN][1000 genomes]
rs8101461	0.97[ASN][1000 genomes]
rs8103825	0.91[ASN][1000 genomes]
rs8106801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8106923	0.94[ASN][1000 genomes]
rs8107638	0.91[ASN][1000 genomes]
rs8107982	0.85[ASN][1000 genomes]
rs8109549	0.92[ASN][1000 genomes]
rs8111827	0.97[ASN][1000 genomes]
rs8112054	0.85[ASN][1000 genomes]
rs8112216	0.85[ASN][1000 genomes]
rs8112500	0.91[ASN][1000 genomes]
rs8182465	0.91[ASN][1000 genomes]
rs9304980	0.85[ASN][1000 genomes]
rs9304982	0.97[ASN][1000 genomes]
rs9941463	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking 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	25 gene(s)	inside rSNPs	diseases
3	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1065384	chr19:21249321-21350698	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS 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
6	nsv911413	chr19:21263518-21347598	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats 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
7	esv3319019	chr19:21268262-21336383	Weak transcription ZNF genes & repeats Strong transcription Active TSS 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	8 gene(s)	inside rSNPs	diseases
8	esv3319020	chr19:21268262-21336383	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription 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	8 gene(s)	inside rSNPs	diseases
9	esv7695	chr19:21268276-21328430	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	esv5909	chr19:21272333-21334753	Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	esv3420290	chr19:21272477-21336432	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	esv3391713	chr19:21272485-21334631	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	esv5243	chr19:21272548-21334670	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	esv7204	chr19:21274198-21336396	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers 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	8 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	nsv520833	chr19:21314102-21314774	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21313000-21316800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:21314200-21316800	Weak transcription	HepG2	liver
3	chr19:21314400-21316400	Weak transcription	Placenta Amnion	Placenta Amnion

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