Variant report

Variant	rs12757152
Chromosome Location	chr1:175856302-175856303
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10913093	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913100	0.85[EUR][1000 genomes]
rs11805196	0.88[EUR][1000 genomes]
rs11807032	0.85[EUR][1000 genomes]
rs12239742	0.85[EUR][1000 genomes]
rs12406237	0.85[EUR][1000 genomes]
rs12409939	0.85[EUR][1000 genomes]
rs12724711	0.88[EUR][1000 genomes]
rs12726210	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12726737	0.90[EUR][1000 genomes]
rs12728682	0.86[EUR][1000 genomes]
rs12730153	0.86[EUR][1000 genomes]
rs12730725	0.90[EUR][1000 genomes]
rs12735431	0.85[EUR][1000 genomes]
rs12736942	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12738956	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12740514	0.88[EUR][1000 genomes]
rs12745657	0.88[EUR][1000 genomes]
rs12752542	0.88[EUR][1000 genomes]
rs12752829	0.85[EUR][1000 genomes]
rs12753832	0.86[EUR][1000 genomes]
rs12754330	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12755734	0.90[EUR][1000 genomes]
rs12758770	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12759426	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12759478	0.85[EUR][1000 genomes]
rs12759736	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1303987	0.85[EUR][1000 genomes]
rs57385190	0.88[EUR][1000 genomes]
rs6687954	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71514835	0.85[EUR][1000 genomes]
rs7525623	0.85[EUR][1000 genomes]
rs7528198	0.90[EUR][1000 genomes]
rs7534440	0.85[EUR][1000 genomes]
rs7551283	0.85[EUR][1000 genomes]
rs7555561	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv872560	chr1:175648631-175869554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175847600-175857000	Weak transcription	Fetal Lung	lung
2	chr1:175848200-175856800	Weak transcription	Adipose Nuclei	Adipose
3	chr1:175848400-175862600	Weak transcription	Fetal Intestine Small	intestine
4	chr1:175851800-175857400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:175853200-175857600	Enhancers	Brain Substantia Nigra	brain
6	chr1:175853600-175858000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:175855000-175856800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:175855000-175857000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:175855000-175870600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:175855200-175856600	Weak transcription	Brain Anterior Caudate	brain
11	chr1:175855200-175856800	Weak transcription	Aorta	Aorta
12	chr1:175855200-175856800	Weak transcription	Fetal Brain Female	brain
13	chr1:175855200-175857000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:175855200-175857200	Weak transcription	Fetal Brain Male	brain
15	chr1:175855200-175858600	Weak transcription	HSMM	muscle
16	chr1:175855200-175862200	Weak transcription	Right Atrium	heart
17	chr1:175855200-175879400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:175855400-175856600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:175855400-175856600	Weak transcription	Brain Angular Gyrus	brain
20	chr1:175855400-175856600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:175855400-175856600	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:175855400-175856600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:175855400-175856800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:175855400-175857200	Weak transcription	Spleen	Spleen
25	chr1:175855400-175858000	Weak transcription	HSMMtube	muscle
26	chr1:175855400-175860200	Weak transcription	Lung	lung
27	chr1:175855400-175869200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:175855400-175879400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:175855800-175856600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:175855800-175856800	Weak transcription	Brain Germinal Matrix	brain
31	chr1:175855800-175857400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:175856000-175856800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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