Variant report

Variant	rs4719273
Chromosome Location	chr7:11432595-11432596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10255748	0.84[EUR][1000 genomes]
rs10950347	0.81[EUR][1000 genomes]
rs11766460	0.86[EUR][1000 genomes]
rs11772219	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11772248	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11772286	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11983060	0.83[ASN][1000 genomes]
rs12670599	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17623777	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1859225	0.91[ASN][1000 genomes]
rs1978137	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2107162	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2189351	0.90[EUR][1000 genomes]
rs38924	0.88[EUR][1000 genomes]
rs4351330	0.91[EUR][1000 genomes]
rs4636088	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58102730	0.81[EUR][1000 genomes]
rs6460812	0.85[EUR][1000 genomes]
rs6954956	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6956916	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6958033	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6962687	0.85[EUR][1000 genomes]
rs6975177	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7777246	0.82[EUR][1000 genomes]
rs7777321	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7793926	0.91[EUR][1000 genomes]
rs7794515	0.85[EUR][1000 genomes]
rs7794645	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7804531	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7810604	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7811128	0.85[EUR][1000 genomes]
rs7811313	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9986948	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv1025802	chr7:11371145-11438472	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	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
15	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
16	esv3346993	chr7:11430761-11447799	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11417000-11440000	Weak transcription	Fetal Kidney	kidney
2	chr7:11428400-11445600	Weak transcription	Fetal Brain Male	brain
3	chr7:11429800-11433000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:11430200-11432600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr7:11430200-11432800	Weak transcription	Brain Germinal Matrix	brain
6	chr7:11430200-11432800	Strong transcription	Placenta	Placenta
7	chr7:11430200-11433000	ZNF genes & repeats	Fetal Intestine Small	intestine
8	chr7:11430600-11433200	Strong transcription	Liver	Liver
9	chr7:11430800-11434400	Strong transcription	Adipose Nuclei	Adipose
10	chr7:11431000-11434400	Weak transcription	Fetal Brain Female	brain
11	chr7:11431200-11436400	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:11431200-11461600	Weak transcription	A549	lung
13	chr7:11431400-11433000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:11431400-11433000	Strong transcription	Fetal Intestine Large	intestine
15	chr7:11431600-11434400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:11431600-11445800	Weak transcription	Ovary	ovary
17	chr7:11431600-11446000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:11432000-11433000	Strong transcription	Fetal Stomach	stomach
19	chr7:11432000-11439800	Weak transcription	Pancreas	Pancrea
20	chr7:11432200-11453200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:11432400-11434000	Weak transcription	Fetal Lung	lung
22	chr7:11432400-11447400	Weak transcription	Brain Cingulate Gyrus	brain

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