Variant report

Variant	rs458959
Chromosome Location	chr21:16002341-16002342
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	chr21:15978384..15981097-chr21:16000750..16003458,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11088124	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11701328	0.80[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs1292580	0.90[ASN][1000 genomes]
rs1292581	0.90[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs1292585	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1292588	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1292589	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1292594	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1292597	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1350630	0.80[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs1977014	0.83[ASN][1000 genomes]
rs1977015	0.80[CEU][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs2125751	0.80[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs2822819	0.80[CEU][hapmap];0.83[ASN][1000 genomes]
rs2822822	0.80[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs372539	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs376583	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs383431	0.99[ASN][1000 genomes]
rs395625	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap]
rs402024	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs407446	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4171	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs421894	0.88[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs445139	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs455658	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs455821	0.87[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];0.87[JPT][hapmap]
rs456278	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs456716	0.83[ASN][1000 genomes]
rs457036	0.98[ASN][1000 genomes]
rs458104	0.87[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs459315	0.83[ASN][1000 genomes]
rs459837	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs460280	0.87[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs460643	0.87[CEU][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs460786	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs462339	0.83[ASN][1000 genomes]
rs462418	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs462450	0.80[LWK][hapmap];0.90[YRI][hapmap]
rs464381	0.83[ASN][1000 genomes]
rs464687	0.87[CEU][hapmap];0.83[ASN][1000 genomes]
rs465674	0.83[ASN][1000 genomes]
rs466008	0.87[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap]
rs466464	0.83[ASN][1000 genomes]
rs466909	0.87[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap]
rs467055	0.83[ASN][1000 genomes]
rs6516928	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs7275267	0.87[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs7277131	0.80[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs7280842	0.80[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs8129100	0.89[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs989877	0.80[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs989878	0.83[ASN][1000 genomes]
rs9977944	0.81[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs9980813	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv3457	chr21:15996855-16042349	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16001400-16002600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr21:16001400-16002800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr21:16001600-16002400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr21:16001600-16002600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr21:16001600-16002600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr21:16001600-16002600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:16001600-16003600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr21:16001800-16002400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr21:16001800-16002600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr21:16001800-16002600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr21:16001800-16002600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr21:16001800-16002600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr21:16001800-16002600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:16001800-16002600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr21:16001800-16002600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr21:16001800-16002800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr21:16001800-16003400	Enhancers	K562	blood
18	chr21:16001800-16003600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr21:16001800-16003600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr21:16001800-16003600	Enhancers	Dnd41	blood
21	chr21:16002000-16003800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr21:16002000-16003800	Enhancers	Primary T helper cells fromperipheralblood	blood

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