Variant report

Variant	rs17131428
Chromosome Location	chr1:91866856-91866857
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:91865780..91868453-chr1:91965826..91968681,3	K562	blood:
2	chr1:91745154..91747996-chr1:91866350..91867875,2	K562	blood:

Variant related genes	Relation type
ENSG00000097046	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12125586	0.95[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs12128042	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs12129120	0.80[EUR][1000 genomes]
rs12129878	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12142604	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12144808	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17556716	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs41286785	0.95[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs60719104	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72726278	0.83[EUR][1000 genomes]
rs72726302	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv1796351	chr1:91722083-91872374	Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv546806	chr1:91780408-91875505	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91853200-91869200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:91853200-91869200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:91853200-91869400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:91853200-91869600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:91861600-91869400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:91863600-91869400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:91863600-91869600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:91864200-91869400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:91864200-91869600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:91864400-91869400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:91865000-91869600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:91865200-91869200	Weak transcription	Fetal Kidney	kidney
13	chr1:91865800-91867000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:91866000-91869200	Weak transcription	Brain Germinal Matrix	brain
15	chr1:91866200-91869400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:91866200-91869600	Weak transcription	Psoas Muscle	Psoas
17	chr1:91866800-91867200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:91866800-91867200	Enhancers	Adipose Nuclei	Adipose
19	chr1:91866800-91868000	Enhancers	Colon Smooth Muscle	Colon
20	chr1:91866800-91869000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:91866800-91869000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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