Variant report

Variant	rs398972
Chromosome Location	chr21:16050452-16050453
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16045852..16052768-chr21:16052792..16061174,10	K562	blood:
2	chr21:16044097..16046561-chr21:16049201..16052244,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11701328	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs1292581	0.81[JPT][hapmap]
rs1350630	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs1977015	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs2045586	0.90[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs2125751	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs2822822	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs370416	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs388522	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs390482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs395625	0.81[JPT][hapmap]
rs402425	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4171	0.81[JPT][hapmap]
rs421894	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs440600	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs450193	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs455547	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs455821	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs458104	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs460280	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs460643	0.80[JPT][hapmap]
rs462418	0.81[JPT][hapmap]
rs466008	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs466909	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs467000	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6516928	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs7275267	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs7277131	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs7280842	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs989877	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs9977944	0.81[CHB][hapmap];0.85[JPT][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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16046200-16050800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr21:16047400-16050800	Enhancers	Primary B cells from peripheral blood	blood
3	chr21:16047600-16050600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr21:16047800-16050800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr21:16048600-16050800	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr21:16049000-16050600	Enhancers	Primary B cells from cord blood	blood
7	chr21:16049000-16050800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr21:16049000-16050800	Weak transcription	Fetal Thymus	thymus
9	chr21:16049000-16052200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr21:16049000-16058400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr21:16049200-16050600	Enhancers	Primary T cells from cord blood	blood
12	chr21:16049200-16050800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr21:16049200-16050800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr21:16049400-16050800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr21:16049400-16050800	Enhancers	GM12878-XiMat	blood
16	chr21:16049400-16051000	Flanking Active TSS	K562	blood
17	chr21:16049400-16051200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr21:16049600-16054600	Weak transcription	HUVEC	blood vessel
19	chr21:16049800-16050600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr21:16050000-16050600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr21:16050000-16050600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr21:16050000-16050600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr21:16050000-16050800	Enhancers	Placenta	Placenta
24	chr21:16050000-16057800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr21:16050200-16050600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr21:16050200-16050800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr21:16050200-16055400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr21:16050400-16051000	Enhancers	Dnd41	blood
29	chr21:16050400-16051200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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