Variant report

Variant	rs1000844
Chromosome Location	chr21:40203458-40203459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40175881..40179455-chr21:40201702..40207885,11	MCF-7	breast:
2	chr21:40189866..40191411-chr21:40201811..40203676,2	MCF-7	breast:
3	chr21:40196402..40198026-chr21:40202193..40204500,2	K562	blood:
4	chr21:40203275..40206794-chr21:40210041..40212530,5	MCF-7	breast:
5	chr21:40202141..40208683-chr21:40214749..40222143,9	K562	blood:
6	chr21:40188480..40191241-chr21:40201204..40203574,2	K562	blood:
7	chr21:40202120..40203721-chr21:40220643..40222450,2	K562	blood:
8	chr21:40189822..40191337-chr21:40202443..40204626,2	MCF-7	breast:
9	chr21:40180454..40185296-chr21:40201634..40204434,7	K562	blood:
10	chr21:40202074..40204721-chr21:40221926..40224763,2	MCF-7	breast:
11	chr21:40175294..40179502-chr21:40201748..40206259,10	K562	blood:
12	chr21:40175199..40185296-chr21:40201950..40208355,14	K562	blood:
13	chr21:40192057..40193677-chr21:40201859..40203511,2	MCF-7	breast:
14	chr21:40203433..40205843-chr21:40286942..40289085,2	MCF-7	breast:
15	chr21:40203421..40205161-chr21:40207870..40210107,2	MCF-7	breast:
16	chr21:40196402..40199978-chr21:40201440..40206017,5	K562	blood:
17	chr21:40181095..40183169-chr21:40202885..40205120,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction
ENSG00000229986	Chromatin interaction
ENSG00000234035	Chromatin interaction

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

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

rs_ID	r²[population]
rs1009121	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1051420	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1051475	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1051476	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10854389	0.87[ASN][1000 genomes]
rs11088450	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11088451	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11088452	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11088453	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11088454	0.81[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1123350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11254	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11701191	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11701500	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs11702403	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12481740	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12482470	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12483746	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12627283	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13046853	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13047133	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13047537	0.92[ASN][1000 genomes]
rs13047745	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13048035	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13050340	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1571707	1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs2070531	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2142035	0.81[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs2836683	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2836684	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2836685	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836686	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836687	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836688	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836689	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836690	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836691	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836692	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836693	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836710	0.93[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs2836711	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs6517481	0.89[EUR][1000 genomes]
rs7276961	0.88[EUR][1000 genomes]
rs7282444	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs7282723	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs762386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs762387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9941892	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs998855	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40195000-40212600	Weak transcription	Right Atrium	heart
2	chr21:40195200-40204800	Weak transcription	Aorta	Aorta
3	chr21:40195200-40213800	Weak transcription	Fetal Kidney	kidney
4	chr21:40196400-40206600	Weak transcription	Gastric	stomach
5	chr21:40196400-40229000	Weak transcription	Right Ventricle	heart
6	chr21:40196600-40205000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr21:40196600-40211000	Weak transcription	Pancreas	Pancrea
8	chr21:40197000-40203600	Weak transcription	NH-A	brain
9	chr21:40197000-40211800	Weak transcription	Esophagus	oesophagus
10	chr21:40202600-40203600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr21:40202600-40203600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr21:40202600-40204000	Enhancers	Thymus	Thymus
13	chr21:40202600-40204200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr21:40202600-40204200	Enhancers	Dnd41	blood
15	chr21:40202600-40204400	Enhancers	Primary B cells from peripheral blood	blood
16	chr21:40202600-40204400	Enhancers	Primary hematopoietic stem cells	blood
17	chr21:40202600-40204800	Enhancers	Placenta	Placenta
18	chr21:40202600-40205400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr21:40202600-40205600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr21:40202600-40207600	Enhancers	HepG2	liver
21	chr21:40202800-40203600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr21:40202800-40203600	Enhancers	Stomach Mucosa	stomach
23	chr21:40202800-40203800	Enhancers	Primary T cells fromperipheralblood	blood
24	chr21:40202800-40203800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr21:40202800-40203800	Enhancers	Psoas Muscle	Psoas
26	chr21:40202800-40203800	Enhancers	Small Intestine	intestine
27	chr21:40202800-40203800	Enhancers	Hela-S3	cervix
28	chr21:40202800-40204000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr21:40202800-40204000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr21:40202800-40204000	Enhancers	Duodenum Mucosa	Duodenum
31	chr21:40202800-40204000	Enhancers	Fetal Lung	lung
32	chr21:40202800-40204000	Enhancers	Fetal Thymus	thymus
33	chr21:40202800-40204000	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr21:40202800-40204000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr21:40202800-40204000	Enhancers	HSMMtube	muscle
36	chr21:40202800-40204200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr21:40202800-40204200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr21:40202800-40204200	Enhancers	Adipose Nuclei	Adipose
39	chr21:40202800-40204200	Enhancers	Colon Smooth Muscle	Colon
40	chr21:40202800-40204200	Enhancers	Fetal Intestine Small	intestine
41	chr21:40202800-40204200	Enhancers	Fetal Stomach	stomach
42	chr21:40202800-40204200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr21:40202800-40204200	Enhancers	NHDF-Ad	bronchial
44	chr21:40202800-40204200	Enhancers	NHLF	lung
45	chr21:40202800-40204400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr21:40202800-40204400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr21:40202800-40204400	Enhancers	Lung	lung
48	chr21:40202800-40204600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr21:40202800-40204600	Enhancers	HMEC	breast
50	chr21:40202800-40204800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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