Variant report

Variant	rs17003916
Chromosome Location	chr21:16048199-16048200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16045852..16052768-chr21:16052792..16061174,10	K562	blood:
2	chr21:15919365..15921468-chr21:16048127..16050377,2	K562	blood:
3	chr21:16047229..16049844-chr21:16065016..16067632,2	K562	blood:
4	chr21:16044694..16046970-chr21:16047016..16050128,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs17003731	0.82[YRI][hapmap]
rs17003785	0.82[YRI][hapmap]
rs17003818	0.82[YRI][hapmap]
rs17003822	0.83[AMR][1000 genomes]
rs17003830	1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs17003835	0.83[AMR][1000 genomes]
rs17003879	1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs17003885	0.82[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003919	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003939	1.00[AMR][1000 genomes]
rs55660680	0.83[AMR][1000 genomes]
rs56344210	0.83[AMR][1000 genomes]
rs57281261	0.83[AMR][1000 genomes]
rs57369522	0.83[AMR][1000 genomes]
rs58711927	0.83[AMR][1000 genomes]
rs59115274	0.83[AMR][1000 genomes]
rs59489313	0.83[AMR][1000 genomes]
rs59635777	1.00[AMR][1000 genomes]
rs60481541	0.83[AMR][1000 genomes]
rs6516924	0.83[AMR][1000 genomes]
rs73894114	0.83[AMR][1000 genomes]
rs73894115	0.83[AMR][1000 genomes]
rs73894119	0.83[AMR][1000 genomes]
rs73894121	0.83[AMR][1000 genomes]
rs73894153	0.83[AMR][1000 genomes]
rs73894154	0.83[AMR][1000 genomes]
rs73894156	0.83[AMR][1000 genomes]
rs73894157	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73894178	0.83[AMR][1000 genomes]
rs73894179	0.83[AMR][1000 genomes]
rs73894180	0.83[AMR][1000 genomes]
rs73894183	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73894184	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73894185	1.00[AMR][1000 genomes]
rs73894186	0.83[AMR][1000 genomes]
rs8128543	0.83[AMR][1000 genomes]
rs8129964	1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs8132385	0.82[YRI][hapmap]

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	nsv834045	chr21:15900678-16112850	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv834046	chr21:15903792-16077369	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17003916	SAMSN1	cis	lymphoblastoid	seeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16044400-16050000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr21:16046200-16050800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr21:16047000-16050200	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr21:16047400-16048200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr21:16047400-16048200	Enhancers	Primary B cells from cord blood	blood
6	chr21:16047400-16048200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr21:16047400-16048400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr21:16047400-16048400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr21:16047400-16050800	Enhancers	Primary B cells from peripheral blood	blood
10	chr21:16047600-16048200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr21:16047600-16048200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr21:16047600-16048400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr21:16047600-16048400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr21:16047600-16050200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr21:16047600-16050600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr21:16047800-16048200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr21:16047800-16048600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr21:16047800-16048600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr21:16047800-16048800	Enhancers	Adipose Nuclei	Adipose
20	chr21:16047800-16049000	Enhancers	Fetal Thymus	thymus
21	chr21:16047800-16049600	Enhancers	HUVEC	blood vessel
22	chr21:16047800-16050800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr21:16048000-16048400	Enhancers	Primary T cells fromperipheralblood	blood
24	chr21:16048000-16048400	Enhancers	Primary hematopoietic stem cells	blood
25	chr21:16048000-16048600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr21:16048000-16048600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr21:16048000-16048600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr21:16048000-16049000	Flanking Active TSS	K562	blood
29	chr21:16048000-16049200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr21:16048000-16049200	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr21:16048000-16049400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr21:16048000-16049400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr21:16048000-16049400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr21:16048000-16049400	Flanking Active TSS	GM12878-XiMat	blood
35	chr21:16048000-16050400	Flanking Active TSS	Dnd41	blood

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