Variant report

Variant	rs60568057
Chromosome Location	chr1:155441641-155441642
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155439465..155441784-chr1:155447599..155450347,3	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10158037	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10158433	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10465954	0.83[AFR][1000 genomes]
rs13375379	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16836851	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16836867	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28438500	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28452675	0.83[AFR][1000 genomes]
rs28491466	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28507559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56035547	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56770523	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57334798	0.91[AFR][1000 genomes]
rs57519519	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57807227	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58086206	0.80[AFR][1000 genomes]
rs58621120	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58647953	0.83[AFR][1000 genomes]
rs58850753	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59633238	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59815288	1.00[AMR][1000 genomes]
rs59913551	0.89[AFR][1000 genomes]
rs59992966	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60818259	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61403978	0.96[AFR][1000 genomes]
rs61631408	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6427277	0.90[AFR][1000 genomes]
rs6658401	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6659913	0.87[AFR][1000 genomes]
rs6665660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6665939	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6669216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6692952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72993428	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72993486	0.90[AFR][1000 genomes]
rs72995115	0.93[AFR][1000 genomes]
rs72995140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995165	0.89[AFR][1000 genomes]
rs72995166	0.88[AFR][1000 genomes]
rs72995171	0.92[AFR][1000 genomes]
rs72995173	0.88[AFR][1000 genomes]
rs72995177	0.95[AFR][1000 genomes]
rs73008931	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008968	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008999	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010906	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010909	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010921	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7517139	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7517777	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7532714	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7541017	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9988453	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9988540	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	nsv831636	chr1:155219223-155444864	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers 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 miRNA target site	187 gene(s)	inside rSNPs	diseases
4	esv1799856	chr1:155305059-155534616	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv1795662	chr1:155305059-155540660	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	esv1795478	chr1:155334933-155510824	Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv1803551	chr1:155334933-155522572	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	esv1800974	chr1:155367680-155510824	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv872468	chr1:155413304-155549562	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155362800-155442400	Weak transcription	Right Ventricle	heart
2	chr1:155364400-155450800	Weak transcription	HUVEC	blood vessel
3	chr1:155408600-155444200	Weak transcription	Fetal Brain Male	brain
4	chr1:155408600-155448400	Weak transcription	Fetal Brain Female	brain
5	chr1:155408800-155447600	Weak transcription	Aorta	Aorta
6	chr1:155421800-155447800	Weak transcription	Lung	lung
7	chr1:155424600-155462600	Weak transcription	Pancreas	Pancrea
8	chr1:155426400-155448000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:155426400-155455800	Weak transcription	Stomach Mucosa	stomach
10	chr1:155428600-155451600	Weak transcription	Gastric	stomach
11	chr1:155430400-155448200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:155437200-155447600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:155437200-155448200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:155437400-155441800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:155437400-155450600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:155437400-155451400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:155437600-155442200	Weak transcription	NHDF-Ad	bronchial
18	chr1:155437600-155446600	Weak transcription	HSMM	muscle
19	chr1:155437600-155447800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:155437600-155448000	Weak transcription	HSMMtube	muscle
21	chr1:155437800-155442200	Weak transcription	Osteobl	bone
22	chr1:155437800-155442800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:155437800-155447800	Weak transcription	NH-A	brain
24	chr1:155437800-155449200	Weak transcription	NHLF	lung
25	chr1:155438000-155442000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:155439200-155442200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:155439800-155442800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:155439800-155449000	Weak transcription	Fetal Kidney	kidney
29	chr1:155440600-155441800	ZNF genes & repeats	A549	lung
30	chr1:155440600-155443200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:155440600-155443200	Enhancers	Brain Cingulate Gyrus	brain
32	chr1:155440600-155443400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:155440800-155442600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
34	chr1:155440800-155443200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr1:155440800-155443200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
36	chr1:155440800-155443600	ZNF genes & repeats	GM12878-XiMat	blood
37	chr1:155441000-155441800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
38	chr1:155441000-155441800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:155441000-155441800	ZNF genes & repeats	Brain Anterior Caudate	brain
40	chr1:155441000-155442000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:155441000-155442000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:155441000-155442000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:155441000-155442000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
44	chr1:155441000-155442000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
45	chr1:155441000-155442000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
46	chr1:155441000-155442000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:155441000-155442000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:155441000-155442200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr1:155441000-155442200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:155441000-155442200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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