Variant report

Variant	rs7048587
Chromosome Location	chr9:8686437-8686438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10122820	0.89[EUR][1000 genomes]
rs10125358	1.00[CEU][hapmap];0.82[GIH][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes]
rs10977250	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12115364	0.81[EUR][1000 genomes]
rs12336593	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs12685924	0.82[CEU][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs1337805	0.86[CEU][hapmap]
rs1368981	0.87[CEU][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs1368982	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs1415724	0.86[CEU][hapmap]
rs1434264	0.86[CEU][hapmap];0.93[CHB][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap];0.93[EUR][1000 genomes]
rs1434265	0.86[CEU][hapmap];0.93[CHB][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap];0.93[EUR][1000 genomes]
rs1512380	0.86[CEU][hapmap]
rs1512381	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs16928221	0.86[CEU][hapmap]
rs16928238	0.86[CEU][hapmap];0.81[CHD][hapmap]
rs16928282	0.93[CHB][hapmap];0.86[EUR][1000 genomes]
rs2890818	0.85[CEU][hapmap]
rs3817202	0.93[CHB][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3817208	0.93[CHB][hapmap];0.89[CHD][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs3817209	0.93[CHB][hapmap];0.85[EUR][1000 genomes]
rs3817210	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs4442186	0.84[EUR][1000 genomes]
rs57325817	0.95[EUR][1000 genomes]
rs59292968	0.83[EUR][1000 genomes]
rs60000844	0.95[EUR][1000 genomes]
rs60499554	0.92[EUR][1000 genomes]
rs61002972	0.92[EUR][1000 genomes]
rs7021243	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7030931	0.86[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7040154	0.93[CEU][hapmap]
rs7041517	0.95[EUR][1000 genomes]
rs7042493	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7042822	0.93[EUR][1000 genomes]
rs72698256	0.83[EUR][1000 genomes]
rs72700351	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031472	chr9:8250901-8712547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1022796	chr9:8360729-9110046	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv892228	chr9:8482778-8703733	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv892232	chr9:8645448-8698875	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv892233	chr9:8645448-8702964	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv892234	chr9:8645448-8703733	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8679200-8687400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:8679600-8687000	Weak transcription	Aorta	Aorta
3	chr9:8679800-8689200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr9:8679800-8696400	Weak transcription	Ovary	ovary
5	chr9:8680000-8693000	Weak transcription	Fetal Brain Female	brain
6	chr9:8680000-8694800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr9:8681800-8687400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:8682000-8694800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr9:8682800-8686800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:8683000-8706000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr9:8683400-8686600	Enhancers	Brain Hippocampus Middle	brain
12	chr9:8683400-8689200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr9:8683400-8696000	Weak transcription	Fetal Lung	lung
14	chr9:8683600-8693000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr9:8683800-8689400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr9:8684200-8689200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr9:8684200-8693000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:8685200-8691000	Weak transcription	Brain Angular Gyrus	brain
19	chr9:8685600-8687200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:8685600-8691000	Weak transcription	Brain Substantia Nigra	brain
21	chr9:8685800-8687600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr9:8686200-8687200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:8686200-8691000	Weak transcription	Brain Anterior Caudate	brain
24	chr9:8686400-8693600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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