Variant report

Variant	rs12627033
Chromosome Location	chr21:41435890-41435891
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	chr21:41435302..41437645-chr21:41444295..41446536,2	MCF-7	breast:
2	chr21:41425304..41429090-chr21:41430409..41436331,6	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C21orf88-2	chr21:41435297-41437212	NONHSAT082215
2	lnc-C21orf88-2	chr21:41435297-41437212	l_2217_NR_024100

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10470193	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12627061	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1882780	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2142121	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2837383	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2837384	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2837405	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2837410	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2837413	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2837417	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2837418	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2837419	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2837421	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2837422	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2837423	0.88[EUR][1000 genomes]
rs2860103	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4818115	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4818116	0.84[ASN][1000 genomes]
rs9974743	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9975265	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9978703	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9979120	0.81[EUR][1000 genomes];0.85[ASN][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	nsv913745	chr21:41423346-41473566	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12627033	SLC37A1	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41426800-41437000	Weak transcription	Pancreas	Pancrea
2	chr21:41426800-41437800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr21:41426800-41445800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr21:41427600-41442400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr21:41432600-41439600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr21:41433000-41438400	Weak transcription	Fetal Brain Female	brain
7	chr21:41433000-41446200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr21:41435800-41436400	Weak transcription	Aorta	Aorta
9	chr21:41435800-41437200	Enhancers	Fetal Brain Male	brain
10	chr21:41435800-41441200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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