Variant report

Variant	rs60273087
Chromosome Location	chr1:169184758-169184759
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13374340	1.00[EUR][1000 genomes]
rs13375997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13376083	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57005244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57272385	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57643418	0.88[AFR][1000 genomes]
rs57703397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58050899	0.83[AFR][1000 genomes]
rs58340481	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58347696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59028370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59776295	0.92[AFR][1000 genomes]
rs59861850	1.00[AFR][1000 genomes]
rs60252569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60721108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60929546	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169130400-169195200	Weak transcription	Pancreas	Pancrea
2	chr1:169167800-169186800	Weak transcription	Primary T cells from cord blood	blood
3	chr1:169172400-169207600	Weak transcription	Esophagus	oesophagus
4	chr1:169172600-169227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:169173200-169202000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:169176600-169206200	Weak transcription	Aorta	Aorta
7	chr1:169177400-169207400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:169178600-169191400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:169180000-169210000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:169180600-169206200	Weak transcription	Left Ventricle	heart
11	chr1:169181400-169185400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:169182000-169185400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:169182000-169201000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:169182800-169192000	Weak transcription	Small Intestine	intestine
15	chr1:169182800-169205400	Weak transcription	Adipose Nuclei	Adipose
16	chr1:169183600-169187200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:169183800-169184800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:169183800-169184800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:169184000-169184800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr1:169184000-169184800	ZNF genes & repeats	Ovary	ovary
21	chr1:169184000-169198800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:169184200-169185000	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr1:169184200-169185600	Weak transcription	Gastric	stomach
24	chr1:169184400-169206200	Weak transcription	Lung	lung
25	chr1:169184600-169185400	Weak transcription	Primary B cells from cord blood	blood
26	chr1:169184600-169185800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:169184600-169186000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:169184600-169189200	Weak transcription	Brain Germinal Matrix	brain
29	chr1:169184600-169200600	Weak transcription	Fetal Stomach	stomach

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