Variant report

Variant	rs423892
Chromosome Location	chr21:46527652-46527653
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46525704..46527706-chr21:46528472..46530391,2	K562	blood:
2	chr21:46524740..46528756-chr21:46537470..46542914,5	K562	blood:
3	chr21:46525858..46528756-chr21:46540058..46542914,3	K562	blood:
4	chr21:46527019..46529206-chr21:46534528..46536813,2	MCF-7	breast:
5	chr21:46527215..46529238-chr21:46529546..46531877,2	MCF-7	breast:
6	chr21:46492354..46499042-chr21:46517406..46531809,25	K562	blood:
7	chr21:46522238..46524278-chr21:46526397..46529123,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235374	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000267857	Chromatin interaction
ENSG00000268856	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs17004737	1.00[ASN][1000 genomes]
rs17004749	0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs17004752	0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs17004754	0.80[EUR][1000 genomes]
rs2032253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2838772	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2838775	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2838777	1.00[ASN][1000 genomes]
rs2838779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2838780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2838784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2838785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3171490	1.00[ASN][1000 genomes]
rs373249	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs375621	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs377244	0.80[EUR][1000 genomes]
rs387536	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs406923	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs407157	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs407550	0.80[EUR][1000 genomes]
rs412431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs413148	1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes]
rs420499	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs422205	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs425176	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs430446	0.80[EUR][1000 genomes]
rs437833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441788	0.90[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes]
rs444789	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs451550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs453176	0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs73230662	0.84[ASN][1000 genomes]
rs73230667	1.00[ASN][1000 genomes]
rs73230670	1.00[ASN][1000 genomes]
rs73230679	1.00[ASN][1000 genomes]
rs73230680	1.00[ASN][1000 genomes]
rs73230681	1.00[ASN][1000 genomes]
rs73232640	1.00[ASN][1000 genomes]
rs73232686	0.80[EUR][1000 genomes]
rs8133767	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9306119	0.80[EUR][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	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv3541	chr21:46496415-46536629	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46513200-46529200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:46516400-46549400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr21:46521200-46528800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:46522600-46538600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr21:46522800-46529600	Weak transcription	NH-A	brain
6	chr21:46523000-46529200	Weak transcription	Colonic Mucosa	Colon
7	chr21:46523000-46529400	Weak transcription	NHLF	lung
8	chr21:46523000-46532600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:46523000-46548200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr21:46523200-46529000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr21:46524600-46528800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr21:46524600-46529200	Enhancers	Primary B cells from cord blood	blood
13	chr21:46524800-46527800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr21:46524800-46528400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr21:46524800-46528400	Weak transcription	Lung	lung
16	chr21:46524800-46528800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr21:46524800-46528800	Weak transcription	Spleen	Spleen
18	chr21:46524800-46528800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr21:46524800-46529000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr21:46524800-46529000	Weak transcription	Gastric	stomach
21	chr21:46524800-46529000	Weak transcription	Pancreas	Pancrea
22	chr21:46524800-46529400	Enhancers	Primary B cells from peripheral blood	blood
23	chr21:46525000-46528400	Weak transcription	HUVEC	blood vessel
24	chr21:46525000-46528800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr21:46525000-46528800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr21:46525000-46529000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr21:46525000-46529000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr21:46525000-46529000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr21:46525000-46529200	Weak transcription	Liver	Liver
30	chr21:46525000-46529200	Weak transcription	Brain Hippocampus Middle	brain
31	chr21:46525000-46533600	Weak transcription	NHEK	skin
32	chr21:46525200-46528800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr21:46525200-46534000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr21:46525400-46528800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr21:46525800-46529000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr21:46525800-46529000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr21:46525800-46533600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr21:46525800-46534000	Weak transcription	HMEC	breast
39	chr21:46526000-46528600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr21:46526000-46529200	Weak transcription	Osteobl	bone
41	chr21:46526000-46529400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr21:46526200-46528600	ZNF genes & repeats	GM12878-XiMat	blood
43	chr21:46526200-46529200	Weak transcription	K562	blood
44	chr21:46526400-46528400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr21:46526400-46528400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr21:46526400-46528800	Weak transcription	Adipose Nuclei	Adipose
47	chr21:46526400-46528800	Weak transcription	Brain Anterior Caudate	brain
48	chr21:46526400-46528800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr21:46526400-46528800	Weak transcription	Dnd41	blood
50	chr21:46526400-46529000	Weak transcription	Fetal Lung	lung

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