Variant report

Variant	rs12071122
Chromosome Location	chr1:169191749-169191750
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10800413	1.00[ASN][1000 genomes]
rs10800418	1.00[ASN][1000 genomes]
rs10919079	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10919097	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919098	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919099	1.00[ASN][1000 genomes]
rs10919100	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919101	1.00[ASN][1000 genomes]
rs10919104	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919109	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919110	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919111	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11802239	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11806445	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11810319	1.00[ASN][1000 genomes]
rs12060959	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12061069	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12061405	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062884	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12063056	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12063863	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12070031	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12071224	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12074013	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12074492	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12080100	1.00[ASN][1000 genomes]
rs12081562	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12082748	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12083249	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12089602	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140995	1.00[ASN][1000 genomes]
rs12561922	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12740226	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35144581	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3753298	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766052	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3766064	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3766077	1.00[ASN][1000 genomes]
rs3766082	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820057	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656661	1.00[ASN][1000 genomes]
rs4656665	1.00[ASN][1000 genomes]
rs4656668	1.00[ASN][1000 genomes]
rs57776592	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61808871	1.00[ASN][1000 genomes]
rs61808872	1.00[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	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv429913	chr1:169177019-169296744	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1834321	chr1:169180302-169240975	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1845262	chr1:169180302-169240975	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1010010	chr1:169189586-169347545	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169130400-169195200	Weak transcription	Pancreas	Pancrea
2	chr1:169172400-169207600	Weak transcription	Esophagus	oesophagus
3	chr1:169172600-169227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:169173200-169202000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:169176600-169206200	Weak transcription	Aorta	Aorta
6	chr1:169177400-169207400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:169180000-169210000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:169180600-169206200	Weak transcription	Left Ventricle	heart
9	chr1:169182000-169201000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:169182800-169192000	Weak transcription	Small Intestine	intestine
11	chr1:169182800-169205400	Weak transcription	Adipose Nuclei	Adipose
12	chr1:169184000-169198800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:169184400-169206200	Weak transcription	Lung	lung
14	chr1:169184600-169200600	Weak transcription	Fetal Stomach	stomach
15	chr1:169184800-169207400	Weak transcription	Ovary	ovary
16	chr1:169185000-169200800	Weak transcription	Fetal Intestine Small	intestine
17	chr1:169185800-169194400	Weak transcription	Primary B cells from cord blood	blood
18	chr1:169187600-169200200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr1:169187600-169207800	Weak transcription	Primary T cells from cord blood	blood
20	chr1:169187800-169194000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:169187800-169211800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:169191600-169192000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:169191600-169198400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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