Variant report

Variant	rs7518865
Chromosome Location	chr1:172020398-172020399
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10157345	0.81[ASN][1000 genomes]
rs10218612	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10218805	0.80[ASN][1000 genomes]
rs10489730	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10797716	0.98[ASN][1000 genomes]
rs10797719	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10797720	0.99[ASN][1000 genomes]
rs10797725	0.99[ASN][1000 genomes]
rs10797734	0.81[ASN][1000 genomes]
rs10797735	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10797736	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10910938	0.93[EUR][1000 genomes]
rs10910939	0.81[ASN][1000 genomes]
rs10910945	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10910966	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10910968	0.81[ASN][1000 genomes]
rs10910969	0.81[ASN][1000 genomes]
rs10910970	0.81[ASN][1000 genomes]
rs10911109	0.94[JPT][hapmap]
rs10911112	0.94[JPT][hapmap]
rs10911121	0.81[JPT][hapmap]
rs12027295	0.81[ASN][1000 genomes]
rs12028055	0.81[ASN][1000 genomes]
rs12037820	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12037831	0.81[ASN][1000 genomes]
rs12038713	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12047492	0.88[JPT][hapmap]
rs12117623	0.81[EUR][1000 genomes]
rs12120556	0.94[JPT][hapmap]
rs12128720	0.98[ASN][1000 genomes]
rs1555382	0.99[ASN][1000 genomes]
rs1555383	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2038481	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2057302	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057303	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2181624	0.94[JPT][hapmap]
rs2208367	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2295610	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2295611	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36178280	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36180993	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3736791	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4076678	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4333881	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4489594	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4916241	0.99[ASN][1000 genomes]
rs4916413	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6425599	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425600	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6669406	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6683503	0.98[ASN][1000 genomes]
rs6700538	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519236	0.99[ASN][1000 genomes]
rs7520595	0.81[ASN][1000 genomes]
rs7530970	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7533694	1.00[CEU][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9286842	1.00[JPT][hapmap];0.80[ASN][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	nsv532342	chr1:171922237-172133785	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	nsv3532	chr1:171997451-172042351	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3374464	chr1:172014139-172023467	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171994000-172020400	Weak transcription	Left Ventricle	heart
2	chr1:172006400-172025600	Weak transcription	Adipose Nuclei	Adipose
3	chr1:172009200-172022800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:172010000-172022200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:172010400-172022000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:172010600-172022400	Weak transcription	HMEC	breast
7	chr1:172010600-172051400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:172010800-172022400	Weak transcription	NHEK	skin
9	chr1:172010800-172037600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:172011400-172037800	Weak transcription	Ovary	ovary
11	chr1:172012600-172022600	Weak transcription	Fetal Lung	lung
12	chr1:172013000-172022400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:172014000-172023800	Weak transcription	Primary T cells from cord blood	blood
14	chr1:172014200-172024200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:172014600-172024400	Weak transcription	Brain Germinal Matrix	brain
16	chr1:172015000-172024200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:172015000-172033200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:172015000-172042600	Weak transcription	Fetal Brain Female	brain
19	chr1:172015200-172022800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:172015200-172026000	Weak transcription	Aorta	Aorta
21	chr1:172015200-172032400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:172016600-172037800	Weak transcription	Brain Substantia Nigra	brain
23	chr1:172017000-172022400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:172018200-172021400	Strong transcription	Brain Hippocampus Middle	brain
25	chr1:172018600-172021400	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr1:172019000-172024200	Weak transcription	Brain Anterior Caudate	brain
27	chr1:172020200-172023400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:172020200-172024400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:172020200-172038800	Weak transcription	Brain Angular Gyrus	brain
30	chr1:172020200-172040600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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