Variant report

Variant	rs2326673
Chromosome Location	chr6:5757650-5757651
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5747398..5750144-chr6:5756400..5758894,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17141229	0.85[CEU][hapmap]
rs6901527	0.85[CEU][hapmap]
rs6911736	0.85[CEU][hapmap]
rs6935929	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs753100	0.85[CEU][hapmap]
rs7740019	0.85[CEU][hapmap]
rs7748744	0.85[CEU][hapmap];0.84[TSI][hapmap]
rs7760017	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9328330	0.86[EUR][1000 genomes]
rs9502335	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs9504503	1.00[CEU][hapmap];0.94[GIH][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs9504505	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv969347	chr6:5757580-5774327	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2326673	TSPYL5	trans	lymphoblastoid	seeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5727000-5762400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:5753000-5786000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:5753400-5761000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:5753400-5764200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:5754600-5761000	Weak transcription	Right Ventricle	heart
6	chr6:5754600-5762600	Weak transcription	Aorta	Aorta
7	chr6:5754600-5763200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:5754600-5764800	Weak transcription	Gastric	stomach
9	chr6:5754600-5771400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:5754800-5767200	Weak transcription	Fetal Intestine Small	intestine
11	chr6:5754800-5771000	Weak transcription	Pancreas	Pancrea
12	chr6:5755000-5775600	Weak transcription	Thymus	Thymus
13	chr6:5755200-5761400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:5755200-5761400	Weak transcription	Osteobl	bone
15	chr6:5756400-5763400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:5756400-5771200	Weak transcription	Primary T cells from cord blood	blood
17	chr6:5756600-5760000	Weak transcription	Primary B cells from cord blood	blood
18	chr6:5756600-5760400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:5757000-5758000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr6:5757600-5758000	Enhancers	Psoas Muscle	Psoas

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