Variant report

Variant	rs975074
Chromosome Location	chr1:173013767-173013768
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173011823..173014538-chr1:173018391..173020709,2	K562	blood:

Variant related genes	Relation type
ENSG00000120337	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10798255	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12060864	0.87[EUR][1000 genomes]
rs12075195	0.87[EUR][1000 genomes]
rs12118211	0.90[ASN][1000 genomes]
rs12142166	0.90[ASN][1000 genomes]
rs2223517	0.95[EUR][1000 genomes]
rs59105298	0.80[EUR][1000 genomes]
rs720455	0.93[EUR][1000 genomes]
rs997331	0.91[EUR][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	nsv831904	chr1:172912110-173070429	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv533953	chr1:172939335-173133255	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs975074	TNFSF18	cis	cerebellum	SCAN
rs975074	PRDX6	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173012600-173017400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:173012600-173017400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:173012800-173016600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:173012800-173017200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:173013000-173014200	Enhancers	HUVEC	blood vessel
6	chr1:173013000-173016000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr1:173013000-173016200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr1:173013000-173016400	Weak transcription	HMEC	breast
9	chr1:173013000-173016400	Weak transcription	NHEK	skin
10	chr1:173013000-173017000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:173013000-173017200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:173013000-173017200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:173013000-173017200	Weak transcription	Hela-S3	cervix
14	chr1:173013000-173017400	Weak transcription	A549	lung
15	chr1:173013000-173017400	Weak transcription	HSMM	muscle
16	chr1:173013000-173017400	Weak transcription	NHDF-Ad	bronchial
17	chr1:173013000-173017600	Weak transcription	Osteobl	bone
18	chr1:173013000-173017800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:173013000-173018000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:173013200-173017400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:173013200-173019000	Weak transcription	HSMMtube	muscle
22	chr1:173013400-173017200	Weak transcription	NH-A	brain
23	chr1:173013400-173017600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:173013600-173017800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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