Variant report

Variant	rs7542568
Chromosome Location	chr1:180515755-180515756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10157891	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10733004	0.90[EUR][1000 genomes]
rs10737343	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10737344	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10737345	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10753210	0.81[ASN][1000 genomes]
rs10753213	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10753214	0.81[ASN][1000 genomes]
rs10753217	0.81[ASN][1000 genomes]
rs10798763	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10798764	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10913972	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10914011	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10914019	0.81[ASN][1000 genomes]
rs10914020	0.81[ASN][1000 genomes]
rs12027553	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12077904	0.81[ASN][1000 genomes]
rs12144149	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12565152	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1339722	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1339723	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1339726	0.81[ASN][1000 genomes]
rs1361363	0.81[ASN][1000 genomes]
rs1361628	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1418100	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1418103	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1556935	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1556938	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1591898	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1934411	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1935283	0.81[ASN][1000 genomes]
rs2153327	0.94[EUR][1000 genomes]
rs2153753	0.81[ASN][1000 genomes]
rs2331739	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2331742	0.94[EUR][1000 genomes]
rs4259605	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4281291	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4304539	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4333819	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4532796	0.94[EUR][1000 genomes]
rs4540612	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4609392	0.81[ASN][1000 genomes]
rs4651061	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4651063	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4651066	0.94[EUR][1000 genomes]
rs4651067	0.81[ASN][1000 genomes]
rs4652501	0.81[ASN][1000 genomes]
rs4652502	0.90[EUR][1000 genomes]
rs4652506	0.81[ASN][1000 genomes]
rs4652510	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61811627	0.84[EUR][1000 genomes]
rs61811628	0.83[EUR][1000 genomes]
rs61811630	0.83[EUR][1000 genomes]
rs61811631	0.83[EUR][1000 genomes]
rs6425620	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6425621	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6425622	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6425623	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6425624	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6425626	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6425630	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6425642	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6425647	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6659147	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6665615	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6667478	0.81[ASN][1000 genomes]
rs6669304	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6677367	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6678261	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680754	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6683484	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6684842	0.81[ASN][1000 genomes]
rs6687873	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6691333	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6695360	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7515052	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7522928	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7526743	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7529042	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7530015	0.85[EUR][1000 genomes]
rs7532972	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7543143	0.81[ASN][1000 genomes]
rs7546030	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7548707	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7548884	0.81[ASN][1000 genomes]
rs7555087	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs946633	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs946634	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs946635	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180510200-180516000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:180510400-180529400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:180511600-180516200	Weak transcription	Psoas Muscle	Psoas
4	chr1:180511800-180521200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:180512000-180515800	Weak transcription	Left Ventricle	heart
6	chr1:180512200-180516200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:180512200-180516600	Weak transcription	Fetal Brain Female	brain
8	chr1:180512200-180521200	Weak transcription	HSMMtube	muscle
9	chr1:180512400-180515800	Weak transcription	Right Atrium	heart
10	chr1:180512400-180517800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:180512600-180516200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:180512600-180516200	Weak transcription	Brain Germinal Matrix	brain
13	chr1:180512800-180517600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:180513000-180518000	Weak transcription	Fetal Brain Male	brain
15	chr1:180513200-180517400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:180513400-180516200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:180513600-180516400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:180513600-180521200	Weak transcription	Right Ventricle	heart
19	chr1:180515000-180518600	Enhancers	Fetal Heart	heart
20	chr1:180515400-180517600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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