Variant report

Variant	rs2023869
Chromosome Location	chr7:11462049-11462050
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:11460090..11463607-chr7:11464944..11467497,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10950348	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11772286	0.80[AMR][1000 genomes]
rs12670599	0.87[CHB][hapmap]
rs1468244	0.86[JPT][hapmap];0.98[EUR][1000 genomes]
rs1476566	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17623777	0.88[CHB][hapmap]
rs1859226	0.87[CHB][hapmap];0.93[JPT][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1968059	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1978137	0.87[CHB][hapmap];0.84[YRI][hapmap];0.80[AMR][1000 genomes]
rs2018144	0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[ASN][1000 genomes]
rs2023868	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2189352	0.93[JPT][hapmap]
rs2285757	0.93[JPT][hapmap]
rs2301743	0.88[EUR][1000 genomes]
rs2354373	0.83[EUR][1000 genomes]
rs4636088	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4720983	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6956916	0.87[CHB][hapmap];0.92[YRI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6958033	0.81[CHB][hapmap]
rs6975177	0.87[CHB][hapmap];0.92[YRI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6975407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs757234	0.84[YRI][hapmap]
rs7777321	0.87[CHB][hapmap];0.81[YRI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7793926	0.80[EUR][1000 genomes]
rs7794215	0.80[YRI][hapmap]
rs7794645	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7796389	0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7804531	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7810604	0.87[CHB][hapmap]
rs7811313	0.88[CHB][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs984239	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' 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
4	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv523279	chr7:11198193-11473561	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv518180	chr7:11198193-11475819	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1015837	chr7:11208733-11475112	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv538732	chr7:11208733-11475112	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1028326	chr7:11221209-11754436	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv538733	chr7:11221209-11754436	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv830902	chr7:11336527-11523904	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv830903	chr7:11384957-11586376	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1032865	chr7:11395480-11477467	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1023665	chr7:11457493-11773517	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11446600-11464000	Weak transcription	Fetal Kidney	kidney
2	chr7:11447000-11464000	Weak transcription	Fetal Brain Male	brain
3	chr7:11454000-11462200	Weak transcription	Adipose Nuclei	Adipose
4	chr7:11456600-11477200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:11460400-11469200	Weak transcription	Left Ventricle	heart
6	chr7:11460600-11463600	Weak transcription	Placenta	Placenta
7	chr7:11460600-11465000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:11460600-11465600	Weak transcription	Fetal Stomach	stomach
9	chr7:11461000-11463800	Weak transcription	Fetal Lung	lung
10	chr7:11461000-11465000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:11461000-11469400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:11461000-11474800	Weak transcription	Fetal Intestine Small	intestine
13	chr7:11461600-11462200	ZNF genes & repeats	A549	lung
14	chr7:11461800-11462200	Enhancers	Liver	Liver

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