Variant report

Variant	rs34954748
Chromosome Location	chr8:108329975-108329976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10101176	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10108610	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10156232	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10505102	0.88[ASN][1000 genomes]
rs10955449	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10955450	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11774043	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11775037	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11781223	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11781621	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11997995	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13252714	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13257393	0.89[ASN][1000 genomes]
rs13264444	0.89[ASN][1000 genomes]
rs13264884	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13266757	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13270051	0.88[ASN][1000 genomes]
rs13273632	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13278421	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13279592	0.86[ASN][1000 genomes]
rs1368496	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1433178	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16876056	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17296316	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17361877	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17368715	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17368821	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2043339	0.81[ASN][1000 genomes]
rs2168410	0.81[ASN][1000 genomes]
rs2217673	0.82[EUR][1000 genomes]
rs2436556	0.83[AMR][1000 genomes]
rs2445351	0.82[AMR][1000 genomes]
rs2445352	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2445353	0.82[EUR][1000 genomes]
rs2445354	0.82[EUR][1000 genomes]
rs2445355	0.80[EUR][1000 genomes]
rs2445356	0.83[AMR][1000 genomes]
rs2445357	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2514848	0.82[EUR][1000 genomes]
rs2514849	0.82[EUR][1000 genomes]
rs2514850	0.82[EUR][1000 genomes]
rs2514851	0.83[AMR][1000 genomes]
rs2514852	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28636468	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34248555	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34294284	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34597339	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35143736	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35855686	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4262299	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4341141	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4341142	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4354281	0.89[ASN][1000 genomes]
rs4506178	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57025371	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62512845	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7000466	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7843054	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9650029	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029202	chr8:107796289-108384241	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv539712	chr8:107796289-108384241	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1034210	chr8:107796489-108384102	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv539713	chr8:107796489-108384102	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv529383	chr8:107796490-108368465	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv915821	chr8:107796490-108393008	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv916496	chr8:107813722-108338822	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1028726	chr8:107816841-108392547	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv497805	chr8:107852509-108368371	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv2764100	chr8:108220671-108469233	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv1030831	chr8:108224295-108466437	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv539714	chr8:108224295-108466437	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv465760	chr8:108224687-108485912	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv611851	chr8:108224687-108485912	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108323000-108349000	Weak transcription	HSMM	muscle
2	chr8:108325200-108330600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr8:108326000-108330400	Enhancers	Primary T cells from cord blood	blood
4	chr8:108327400-108330600	Enhancers	Dnd41	blood
5	chr8:108327400-108340800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:108327800-108332800	Weak transcription	Fetal Kidney	kidney
7	chr8:108328000-108336000	Enhancers	Primary hematopoietic stem cells	blood
8	chr8:108328200-108331200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:108328200-108331400	Genic enhancers	K562	blood
10	chr8:108328200-108342600	Weak transcription	Osteobl	bone
11	chr8:108328200-108344000	Weak transcription	Aorta	Aorta
12	chr8:108328400-108341800	Weak transcription	NHDF-Ad	bronchial
13	chr8:108328400-108342200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:108328400-108344000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:108329400-108342000	Weak transcription	NHLF	lung
16	chr8:108329600-108330000	Weak transcription	Fetal Lung	lung
17	chr8:108329600-108342200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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