Variant report

Variant	rs1344028
Chromosome Location	chr1:159923475-159923476
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:159892760..159896965-chr1:159922291..159925141,4	K562	blood:

Variant related genes	Relation type
ENSG00000158710	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12065741	0.87[ASN][1000 genomes]
rs12144158	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12732517	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12740563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12759403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842817	1.00[CHB][hapmap]
rs2789426	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2840590	0.87[ASN][1000 genomes]
rs34128710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34401812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34702040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35541552	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35622571	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35769623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36082532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41265747	0.87[ASN][1000 genomes]
rs58872353	0.87[ASN][1000 genomes]
rs59673346	0.87[ASN][1000 genomes]
rs60537025	0.87[ASN][1000 genomes]
rs61734538	0.87[ASN][1000 genomes]
rs71628158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71628159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71628160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71628161	1.00[AMR][1000 genomes]
rs71628162	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs71628163	0.87[ASN][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	nsv872489	chr1:159844819-159940000	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv548055	chr1:159918418-159940000	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv520773	chr1:159922959-159935569	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159916200-159930600	Weak transcription	Right Atrium	heart
2	chr1:159916800-159923600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:159919400-159923600	Weak transcription	K562	blood
4	chr1:159919800-159923600	Weak transcription	Esophagus	oesophagus
5	chr1:159919800-159923800	Weak transcription	Fetal Intestine Small	intestine
6	chr1:159919800-159930400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:159920000-159923800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:159922800-159924000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:159922800-159924200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr1:159923000-159926200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:159923200-159924200	Enhancers	Stomach Mucosa	stomach
12	chr1:159923200-159924400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:159923200-159924400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr1:159923200-159924600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:159923400-159924000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:159923400-159924400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:159923400-159926400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:159923400-159926400	Enhancers	NHEK	skin

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