Variant report

Variant	rs2081850
Chromosome Location	chr5:5241968-5241969
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:5209808..5212530-chr5:5241686..5243294,2	K562	blood:
2	chr5:5236191..5238168-chr5:5240454..5243038,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11742341	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11742370	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs13154610	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs16875128	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17712889	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs17713759	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17713940	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2019251	1.00[JPT][hapmap]
rs2059798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2964429	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34880199	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35009703	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35061588	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55706045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55819445	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72724162	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72724173	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs919244	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs919245	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2276302	chr5:5241967-5241968	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2081850	ADAMTS16	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5185200-5262800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:5200200-5252800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:5221600-5242200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:5222200-5244000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:5224400-5253800	Weak transcription	Fetal Kidney	kidney
6	chr5:5230200-5255400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:5232000-5245400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:5234600-5252600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:5236800-5255400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:5237200-5242800	Strong transcription	Ovary	ovary
11	chr5:5238000-5250200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:5238400-5246000	Weak transcription	Fetal Muscle Leg	muscle
13	chr5:5239000-5246600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:5239200-5245400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:5239400-5263000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:5240200-5245400	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:5240800-5243800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:5240800-5247400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr5:5240800-5263000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:5241400-5242600	Enhancers	Fetal Stomach	stomach
21	chr5:5241400-5248600	Strong transcription	NH-A	brain

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