Variant report

Variant	rs2150453
Chromosome Location	chr21:47253215-47253216
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	chr21:47237289..47239387-chr21:47252638..47254672,2	K562	blood:
2	chr21:47252482..47254579-chr21:47255161..47259338,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205424	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1059010	1.00[ASN][1000 genomes]
rs10854474	1.00[ASN][1000 genomes]
rs10854475	1.00[ASN][1000 genomes]
rs11089025	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11701130	1.00[ASN][1000 genomes]
rs11701693	1.00[ASN][1000 genomes]
rs1625244	1.00[ASN][1000 genomes]
rs1736424	1.00[ASN][1000 genomes]
rs1783076	1.00[ASN][1000 genomes]
rs2014421	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2026286	1.00[ASN][1000 genomes]
rs2150454	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2183599	0.86[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2210290	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2277812	1.00[ASN][1000 genomes]
rs2330327	0.86[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2776402	1.00[CHB][hapmap]
rs2839020	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839021	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839030	0.86[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839033	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839035	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2839039	0.86[ASW][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2839041	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2839050	1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[ASN][1000 genomes]
rs2839054	0.86[ASW][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs34495634	1.00[ASN][1000 genomes]
rs34990419	1.00[ASN][1000 genomes]
rs369245	1.00[ASN][1000 genomes]
rs371587	1.00[ASN][1000 genomes]
rs373267	0.86[ASW][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs374331	1.00[ASN][1000 genomes]
rs375254	1.00[ASN][1000 genomes]
rs375971	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs377213	1.00[ASN][1000 genomes]
rs3788217	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788218	0.90[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788226	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.87[TSI][hapmap];1.00[ASN][1000 genomes]
rs3788228	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs380120	1.00[ASN][1000 genomes]
rs382195	1.00[CHB][hapmap]
rs382303	1.00[ASN][1000 genomes]
rs402039	1.00[CHB][hapmap]
rs402355	1.00[ASN][1000 genomes]
rs403192	1.00[ASN][1000 genomes]
rs407651	1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[ASN][1000 genomes]
rs410902	1.00[ASN][1000 genomes]
rs413246	1.00[ASN][1000 genomes]
rs413517	1.00[ASN][1000 genomes]
rs420386	1.00[ASN][1000 genomes]
rs425232	1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[ASN][1000 genomes]
rs432338	1.00[ASN][1000 genomes]
rs4369958	1.00[ASN][1000 genomes]
rs439145	1.00[ASN][1000 genomes]
rs442953	1.00[ASN][1000 genomes]
rs451920	1.00[ASN][1000 genomes]
rs452797	1.00[ASN][1000 genomes]
rs454268	1.00[ASN][1000 genomes]
rs4818804	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819143	1.00[ASN][1000 genomes]
rs4819159	0.86[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56695931	1.00[ASN][1000 genomes]
rs6518257	1.00[ASN][1000 genomes]
rs6518258	0.86[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6518259	1.00[ASN][1000 genomes]
rs71324446	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7276114	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7277632	1.00[ASN][1000 genomes]
rs7279887	0.85[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7280054	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7280405	0.86[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7283688	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159604	1.00[ASN][1000 genomes]
rs7410101	1.00[ASN][1000 genomes]
rs7410105	1.00[ASN][1000 genomes]
rs753092	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760436	0.95[GIH][hapmap];0.84[EUR][1000 genomes]
rs8131193	1.00[CHB][hapmap]
rs8133932	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9637207	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9653780	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9653791	0.85[CEU][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989650	1.00[ASN][1000 genomes]
rs9976042	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
3	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
4	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
5	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
6	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
7	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
8	nsv428043	chr21:47179244-47471971	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	n/a
9	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
10	nsv914078	chr21:47218744-47311686	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
11	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
12	esv2756755	chr21:47243032-47319768	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
13	esv2758821	chr21:47243032-47319768	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
14	nsv914079	chr21:47243074-47650362	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2150453	PRL	trans	lymphoblastoid	seeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47217800-47260400	Weak transcription	Right Atrium	heart
2	chr21:47240600-47256600	Weak transcription	Dnd41	blood
3	chr21:47241000-47255400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr21:47241600-47257400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr21:47241800-47257600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr21:47247000-47257600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr21:47247200-47257000	Weak transcription	Spleen	Spleen
8	chr21:47248000-47257200	Weak transcription	Primary T cells from cord blood	blood
9	chr21:47248600-47253800	Enhancers	Adipose Nuclei	Adipose
10	chr21:47249200-47253400	Weak transcription	Thymus	Thymus
11	chr21:47249800-47256000	Weak transcription	Fetal Lung	lung
12	chr21:47250600-47255200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:47250600-47255400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:47250800-47256200	Weak transcription	Fetal Kidney	kidney
15	chr21:47251000-47254000	Weak transcription	Brain Substantia Nigra	brain
16	chr21:47251000-47258800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr21:47251200-47256200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr21:47251600-47253800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr21:47251600-47253800	Enhancers	Fetal Muscle Leg	muscle
20	chr21:47251800-47253800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr21:47252000-47253600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:47252000-47253800	Enhancers	Brain Hippocampus Middle	brain
23	chr21:47252000-47253800	Enhancers	HSMM	muscle
24	chr21:47252000-47254000	Enhancers	Left Ventricle	heart
25	chr21:47252200-47255200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr21:47252200-47255600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr21:47252200-47256200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr21:47252400-47253400	Enhancers	Fetal Muscle Trunk	muscle
29	chr21:47252400-47253600	ZNF genes & repeats	Fetal Thymus	thymus
30	chr21:47252400-47253800	Enhancers	Fetal Stomach	stomach
31	chr21:47252400-47254200	Enhancers	Right Ventricle	heart
32	chr21:47252400-47254400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr21:47252800-47255600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr21:47253000-47253400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr21:47253000-47254200	Enhancers	HMEC	breast
36	chr21:47253000-47255600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr21:47253200-47253400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr21:47253200-47258000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr21:47253200-47258600	Weak transcription	NHEK	skin

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