Variant report

Variant	rs2836690
Chromosome Location	chr21:40198707-40198708
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40193156..40195802-chr21:40196323..40199129,2	K562	blood:
2	chr21:40196402..40199978-chr21:40201440..40206017,5	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1000844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1009121	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1051420	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1051475	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1051476	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10854389	0.88[ASN][1000 genomes]
rs11088450	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11088451	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11088452	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11088453	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11088454	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1123350	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11254	0.85[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.90[MEX][hapmap];0.86[MKK][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11701191	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11701500	0.94[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs11702403	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12481740	1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs12482470	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12483746	1.00[CHB][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12627283	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13046853	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13047133	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13047537	0.90[ASN][1000 genomes]
rs13047745	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13048035	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13050340	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1571707	0.94[CHB][hapmap];0.80[JPT][hapmap];0.88[ASN][1000 genomes]
rs2070531	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.82[TSI][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2142035	0.94[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs2836683	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2836684	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2836685	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836686	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836687	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836688	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836689	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836691	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836692	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836693	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836710	0.94[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs2836711	0.94[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs6517481	0.89[EUR][1000 genomes]
rs7276961	0.88[EUR][1000 genomes]
rs7282444	0.94[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs7282723	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs762386	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs762387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9941892	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs998855	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40194200-40202800	Weak transcription	Stomach Mucosa	stomach
2	chr21:40194400-40202800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr21:40194600-40203200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr21:40195000-40200600	Weak transcription	Brain Angular Gyrus	brain
5	chr21:40195000-40202800	Weak transcription	Psoas Muscle	Psoas
6	chr21:40195000-40212600	Weak transcription	Right Atrium	heart
7	chr21:40195200-40202800	Weak transcription	Colonic Mucosa	Colon
8	chr21:40195200-40202800	Weak transcription	Small Intestine	intestine
9	chr21:40195200-40202800	Weak transcription	GM12878-XiMat	blood
10	chr21:40195200-40203400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr21:40195200-40204800	Weak transcription	Aorta	Aorta
12	chr21:40195200-40213800	Weak transcription	Fetal Kidney	kidney
13	chr21:40195800-40202800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr21:40196400-40202800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr21:40196400-40206600	Weak transcription	Gastric	stomach
16	chr21:40196400-40229000	Weak transcription	Right Ventricle	heart
17	chr21:40196600-40199000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr21:40196600-40200600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr21:40196600-40202800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr21:40196600-40202800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr21:40196600-40202800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr21:40196600-40202800	Weak transcription	Hela-S3	cervix
23	chr21:40196600-40202800	Weak transcription	K562	blood
24	chr21:40196600-40202800	Weak transcription	NHEK	skin
25	chr21:40196600-40203000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr21:40196600-40203000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr21:40196600-40203000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr21:40196600-40203400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr21:40196600-40205000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr21:40196600-40211000	Weak transcription	Pancreas	Pancrea
31	chr21:40196800-40202800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr21:40196800-40202800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr21:40196800-40202800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr21:40196800-40202800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr21:40196800-40202800	Weak transcription	HSMMtube	muscle
36	chr21:40196800-40203200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr21:40196800-40203200	Weak transcription	Osteobl	bone
38	chr21:40196800-40203400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr21:40196800-40203400	Weak transcription	A549	lung
40	chr21:40197000-40202800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr21:40197000-40202800	Weak transcription	Adipose Nuclei	Adipose
42	chr21:40197000-40202800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr21:40197000-40203600	Weak transcription	NH-A	brain
44	chr21:40197000-40211800	Weak transcription	Esophagus	oesophagus
45	chr21:40197400-40199000	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr21:40197400-40199200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr21:40197400-40202600	Weak transcription	Dnd41	blood
48	chr21:40197400-40202800	Weak transcription	Colon Smooth Muscle	Colon
49	chr21:40197400-40202800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr21:40197400-40202800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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