Variant report

Variant	rs12059355
Chromosome Location	chr1:67223764-67223765
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:67220223..67221912-chr1:67222295..67224131,2	K562	blood:
2	chr1:67216842..67220056-chr1:67223090..67226284,3	K562	blood:
3	chr1:67221443..67223945-chr1:67224724..67227311,3	K562	blood:

Variant related genes	Relation type
ENSG00000152760	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1391547	0.92[ASN][1000 genomes]
rs480060	0.86[ASN][1000 genomes]
rs504169	0.92[ASN][1000 genomes]
rs506778	0.95[ASN][1000 genomes]
rs56053714	0.94[ASN][1000 genomes]
rs6588219	0.94[ASN][1000 genomes]
rs7530545	0.94[ASN][1000 genomes]
rs7548496	0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv830093	chr1:67173594-67348264	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12059355	TCTEX1D1	cis	Whole Blood	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67219000-67223800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:67219000-67224000	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:67219000-67224000	Weak transcription	Right Atrium	heart
4	chr1:67219000-67227200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:67221200-67227400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:67221400-67223800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:67221600-67236400	Weak transcription	Liver	Liver
8	chr1:67222000-67224600	Enhancers	Primary hematopoietic stem cells	blood
9	chr1:67222600-67224200	Enhancers	Fetal Muscle Leg	muscle
10	chr1:67222600-67224400	Enhancers	Primary B cells from cord blood	blood
11	chr1:67222800-67225400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:67222800-67236200	Weak transcription	Psoas Muscle	Psoas
13	chr1:67223200-67224400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:67223200-67224400	Flanking Active TSS	K562	blood
15	chr1:67223200-67224600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:67223400-67224200	Enhancers	Brain Substantia Nigra	brain
17	chr1:67223400-67224200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:67223400-67224400	Enhancers	Primary B cells from peripheral blood	blood
19	chr1:67223400-67224400	Enhancers	Fetal Heart	heart
20	chr1:67223400-67224400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr1:67223400-67224600	Enhancers	GM12878-XiMat	blood
22	chr1:67223600-67223800	Enhancers	Left Ventricle	heart
23	chr1:67223600-67224200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:67223600-67224200	Enhancers	Adipose Nuclei	Adipose
25	chr1:67223600-67224600	Enhancers	Primary monocytes fromperipheralblood	blood

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