Variant report

Variant	rs7012813
Chromosome Location	chr8:10340266-10340267
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	chr8:10339831..10342686-chr8:10351596..10354401,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRSS55-1	chr8:10339916-10340804	NONHSAT125000
2	lnc-PRSS55-1	chr8:10339371-10340804	NONHSAT124996
3	lnc-RP1L1-2	chr8:10338909-10340741	NONHSAT124998
4	lnc-PRSS55-1	chr8:10339916-10340804	NONHSAT124999

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10105841	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs11787125	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12674796	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13254676	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13255425	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13280674	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13280729	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28485845	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34037334	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35483889	0.82[EUR][1000 genomes]
rs4240647	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4240648	0.80[AMR][1000 genomes]
rs4268093	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4281086	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4289772	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4339601	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4398869	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4437611	0.81[EUR][1000 genomes]
rs4457299	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4473997	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4496927	0.86[EUR][1000 genomes]
rs4531010	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs4535706	0.93[EUR][1000 genomes]
rs62490637	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6601478	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6601481	0.80[CEU][hapmap]
rs6601483	0.81[CEU][hapmap]
rs7008169	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7357473	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7812525	0.82[EUR][1000 genomes]
rs7821144	0.89[EUR][1000 genomes]
rs7835667	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs7838089	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7838337	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7846328	0.96[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv890349	chr8:10294330-10355302	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1019090	chr8:10303099-10369061	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1024976	chr8:10303099-10385361	Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1030856	chr8:10303099-10439064	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv890350	chr8:10305317-10346588	Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv610268	chr8:10331636-10486652	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10329000-10345600	Weak transcription	Brain Hippocampus Middle	brain
2	chr8:10329200-10340400	Weak transcription	Brain Angular Gyrus	brain
3	chr8:10329200-10342200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:10331000-10341000	Weak transcription	Spleen	Spleen
5	chr8:10331000-10341800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr8:10331200-10342800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:10332600-10340400	Weak transcription	Gastric	stomach
8	chr8:10332800-10344000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:10335400-10342200	Strong transcription	Brain Germinal Matrix	brain
10	chr8:10335400-10355200	Weak transcription	Fetal Brain Male	brain
11	chr8:10335600-10341200	Weak transcription	Adipose Nuclei	Adipose
12	chr8:10335800-10357600	Weak transcription	Brain Anterior Caudate	brain
13	chr8:10336200-10350200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:10337200-10341800	Weak transcription	Lung	lung
15	chr8:10338000-10357600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:10339200-10340800	Strong transcription	Brain Inferior Temporal Lobe	brain
17	chr8:10339400-10340400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:10339600-10342400	Strong transcription	Fetal Brain Female	brain
19	chr8:10339600-10357600	Weak transcription	Liver	Liver
20	chr8:10339800-10354400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:10340000-10340600	Enhancers	Primary neutrophils fromperipheralblood	blood

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