Variant report

Variant	rs57883269
Chromosome Location	chr1:155566414-155566415
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	chr1:155561838..155563770-chr1:155565772..155568084,2	K562	blood:
2	chr1:155565398..155567532-chr1:155573689..155576463,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13375894	1.00[AMR][1000 genomes]
rs13376498	1.00[AMR][1000 genomes]
rs16836971	1.00[AMR][1000 genomes]
rs16837058	1.00[AMR][1000 genomes]
rs34290183	1.00[AMR][1000 genomes]
rs57468684	1.00[AMR][1000 genomes]
rs58774418	1.00[AMR][1000 genomes]
rs59287240	1.00[AMR][1000 genomes]
rs60777355	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61375216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6663016	1.00[AMR][1000 genomes]
rs6699393	1.00[AMR][1000 genomes]
rs7548199	1.00[AMR][1000 genomes]
rs7550827	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
3	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv3388968	chr1:155532335-155658278	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers 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 target site	55 gene(s)	inside rSNPs	diseases
5	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv436522	chr1:155559513-155674249	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv946419	chr1:155561148-155630744	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	esv3360339	chr1:155562157-155683127	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv547965	chr1:155563152-155688600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 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	chr1:155534800-155568400	Weak transcription	Thymus	Thymus
2	chr1:155535000-155570400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:155541400-155569000	Weak transcription	HSMMtube	muscle
4	chr1:155541600-155568400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:155557200-155568600	Weak transcription	NHEK	skin
6	chr1:155558400-155568600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:155559000-155568800	Weak transcription	HSMM	muscle
8	chr1:155560600-155568400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:155560600-155568400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:155560600-155570400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:155561000-155568800	Weak transcription	Lung	lung
12	chr1:155561200-155568400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:155561200-155568600	Weak transcription	Fetal Stomach	stomach
14	chr1:155561400-155568200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:155562200-155570200	Weak transcription	Hela-S3	cervix
16	chr1:155564600-155567200	Enhancers	Fetal Brain Male	brain
17	chr1:155565600-155566600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:155565600-155566600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:155565600-155566600	Enhancers	Brain Angular Gyrus	brain
20	chr1:155565600-155567000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:155565600-155567000	Enhancers	Brain Cingulate Gyrus	brain
22	chr1:155565800-155566600	Enhancers	Brain Anterior Caudate	brain
23	chr1:155565800-155567000	Enhancers	Brain Hippocampus Middle	brain
24	chr1:155565800-155567000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr1:155566000-155566800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:155566200-155566600	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr1:155566200-155566600	Enhancers	Brain Substantia Nigra	brain
28	chr1:155566400-155566600	Enhancers	Fetal Brain Female	brain
29	chr1:155566400-155567000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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