Variant report

Variant	rs4276953
Chromosome Location	chr1:153836383-153836384
allele	A/G
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:53)

rs_ID	r²[population]
rs10127484	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10908512	0.84[EUR][1000 genomes]
rs10908525	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10908526	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10908578	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11264573	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11264621	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11264736	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs1127091	0.83[EUR][1000 genomes]
rs1139620	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11800001	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12117078	1.00[JPT][hapmap]
rs12120118	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12124424	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12129468	0.86[ASN][1000 genomes]
rs12130611	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12133492	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12133923	0.82[EUR][1000 genomes]
rs12142639	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12142733	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12738361	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17364880	1.00[JPT][hapmap]
rs2252508	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2790686	1.00[CHB][hapmap]
rs2841108	1.00[CHB][hapmap]
rs3001365	1.00[CHB][hapmap]
rs35711150	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4341393	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4370789	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4451582	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4540690	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4581307	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4596938	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4845360	1.00[CHB][hapmap];0.82[YRI][hapmap]
rs61803655	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6427300	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6427306	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6661009	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs6668066	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6671362	0.80[AMR][1000 genomes]
rs6677794	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6690619	0.80[EUR][1000 genomes]
rs6700115	0.83[EUR][1000 genomes]
rs72694233	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7414227	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7415004	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7522030	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7549032	0.82[EUR][1000 genomes]
rs7554469	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9426935	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9426938	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9427232	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9427233	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011897	chr1:153613597-153836703	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS 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 miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
4	nsv531892	chr1:153671910-153954090	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	nsv817392	chr1:153724807-153870005	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
7	esv1825076	chr1:153779296-153843413	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153791800-153845600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:153800800-153850800	Weak transcription	A549	lung
3	chr1:153800800-153852800	Weak transcription	Fetal Brain Female	brain
4	chr1:153800800-153852800	Weak transcription	Placenta	Placenta
5	chr1:153800800-153852800	Weak transcription	Left Ventricle	heart
6	chr1:153800800-153853000	Weak transcription	Fetal Kidney	kidney
7	chr1:153801600-153845800	Weak transcription	Lung	lung
8	chr1:153801800-153836600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:153806200-153845400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:153814800-153839000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:153814800-153848000	Weak transcription	Fetal Heart	heart
12	chr1:153814800-153853400	Weak transcription	HSMMtube	muscle
13	chr1:153816000-153844000	Weak transcription	Right Ventricle	heart
14	chr1:153821600-153839800	Weak transcription	Small Intestine	intestine
15	chr1:153822000-153838600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:153822600-153839000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:153822600-153839400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:153822800-153853400	Weak transcription	HMEC	breast
19	chr1:153822800-153854200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:153823600-153845400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:153824000-153843600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:153825000-153840200	Weak transcription	NHEK	skin
23	chr1:153825200-153836600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:153825200-153838800	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:153825400-153836600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:153825600-153838800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:153825800-153836600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:153825800-153836600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:153825800-153838800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:153825800-153838800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:153825800-153838800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:153825800-153838800	Weak transcription	Adipose Nuclei	Adipose
33	chr1:153825800-153838800	Weak transcription	Brain Anterior Caudate	brain
34	chr1:153825800-153838800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:153825800-153839000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:153825800-153842000	Weak transcription	Fetal Intestine Large	intestine
37	chr1:153825800-153845800	Weak transcription	Esophagus	oesophagus
38	chr1:153825800-153852400	Weak transcription	Fetal Lung	lung
39	chr1:153825800-153853000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:153825800-153853000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:153825800-153853200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:153825800-153853200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:153825800-153887200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:153826000-153836400	Weak transcription	Hela-S3	cervix
45	chr1:153826000-153836600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:153826000-153838800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:153826000-153838800	Weak transcription	Brain Germinal Matrix	brain
48	chr1:153826000-153845800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:153826000-153848000	Weak transcription	K562	blood
50	chr1:153826000-153853200	Weak transcription	Fetal Muscle Trunk	muscle

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