Variant report

Variant	rs11637991
Chromosome Location	chr15:49384854-49384855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49384437..49387309-chr15:49388507..49390532,2	K562	blood:
2	chr15:49377443..49379648-chr15:49384094..49385731,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10431775	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1048975	0.81[ASN][1000 genomes]
rs10775139	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11070682	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11070683	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12148348	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12440709	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12442679	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12898691	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12898709	0.87[AFR][1000 genomes]
rs12902875	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16962057	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2413928	0.90[EUR][1000 genomes]
rs2413931	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2663090	0.80[ASN][1000 genomes]
rs28505357	0.87[AFR][1000 genomes]
rs28575845	0.87[AFR][1000 genomes]
rs28676698	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28724568	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2899427	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2940745	0.82[ASN][1000 genomes]
rs600863	0.81[ASN][1000 genomes]
rs62013266	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7162602	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7179301	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9920070	0.87[AFR][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	esv3404762	chr15:49383685-49386233	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
2	esv3451685	chr15:49383910-49386058	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11637991	GALK2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49376200-49395200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr15:49376400-49397800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:49376600-49391600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:49376600-49397600	Weak transcription	NHLF	lung
5	chr15:49378400-49385000	Weak transcription	Placenta	Placenta
6	chr15:49378800-49396800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:49381400-49397400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr15:49381400-49402400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:49381600-49385200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr15:49381600-49386000	Weak transcription	Brain Hippocampus Middle	brain
11	chr15:49381600-49386000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr15:49381600-49398000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:49381800-49385800	Weak transcription	Brain Substantia Nigra	brain
14	chr15:49381800-49392400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:49381800-49395600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:49382200-49386000	Weak transcription	Brain Anterior Caudate	brain
17	chr15:49382400-49386000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr15:49382400-49393200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:49382600-49402400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:49383400-49392800	Weak transcription	NH-A	brain
21	chr15:49384000-49392400	Weak transcription	HSMM	muscle

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