Variant report

Variant	rs444789
Chromosome Location	chr21:46523261-46523262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46522238..46524278-chr21:46526397..46529123,2	MCF-7	breast:
2	chr21:46493552..46495288-chr21:46521401..46524653,4	MCF-7	breast:
3	chr21:46514549..46517055-chr21:46520921..46524159,3	MCF-7	breast:
4	chr21:46513014..46516027-chr21:46521774..46524473,3	MCF-7	breast:
5	chr21:46493580..46496236-chr21:46521352..46523890,2	MCF-7	breast:
6	chr21:46492354..46499042-chr21:46517406..46531809,25	K562	blood:

Variant related genes	Relation type
ENSG00000268856	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000268805	Chromatin interaction
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs17004737	1.00[ASN][1000 genomes]
rs17004749	0.90[TSI][hapmap]
rs17004752	0.90[TSI][hapmap]
rs2032253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2838772	1.00[CHB][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2838775	1.00[CEU][hapmap];1.00[CHB][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];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3171490	1.00[ASN][1000 genomes]
rs373249	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs375621	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs387536	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];1.00[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];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[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs407157	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs413148	0.88[LWK][hapmap];1.00[MKK][hapmap]
rs420499	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs422205	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs423892	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]
rs425176	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[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs437833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441788	1.00[MKK][hapmap]
rs451550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
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]
rs8133767	1.00[CHB][hapmap];1.00[JPT][hapmap]

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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46509400-46524000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr21:46512200-46525600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr21:46513200-46529200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:46514200-46525000	Enhancers	Right Ventricle	heart
5	chr21:46514800-46523800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr21:46516200-46524000	Weak transcription	Gastric	stomach
7	chr21:46516400-46525600	Weak transcription	K562	blood
8	chr21:46516400-46549400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr21:46517400-46523800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr21:46518600-46523600	Weak transcription	Placenta	Placenta
11	chr21:46519400-46526800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr21:46520200-46524800	Enhancers	Spleen	Spleen
13	chr21:46520400-46525400	Weak transcription	Fetal Brain Female	brain
14	chr21:46520600-46525200	Enhancers	Left Ventricle	heart
15	chr21:46521200-46527000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr21:46521200-46528800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:46521400-46524800	Enhancers	Fetal Lung	lung
18	chr21:46521400-46525000	Enhancers	NHEK	skin
19	chr21:46521400-46525200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr21:46521400-46526400	Enhancers	Adipose Nuclei	Adipose
21	chr21:46521600-46523400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr21:46521600-46524200	Enhancers	Primary B cells from peripheral blood	blood
23	chr21:46521600-46525000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr21:46521600-46525200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr21:46521600-46525200	Enhancers	HMEC	breast
26	chr21:46521600-46526400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr21:46521600-46526800	Genic enhancers	HSMM	muscle
28	chr21:46521800-46523400	Enhancers	Fetal Stomach	stomach
29	chr21:46521800-46524200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr21:46521800-46526600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr21:46521800-46526800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr21:46522000-46523400	Enhancers	Stomach Mucosa	stomach
33	chr21:46522000-46525000	Enhancers	Fetal Muscle Leg	muscle
34	chr21:46522000-46525200	Enhancers	Primary T cells fromperipheralblood	blood
35	chr21:46522000-46525200	Enhancers	Right Atrium	heart
36	chr21:46522000-46526400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr21:46522000-46527000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr21:46522200-46524000	Weak transcription	Brain Substantia Nigra	brain
39	chr21:46522200-46525000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr21:46522200-46527200	Enhancers	Colon Smooth Muscle	Colon
41	chr21:46522400-46523400	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr21:46522400-46523800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr21:46522400-46524000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr21:46522400-46525000	Enhancers	Brain Hippocampus Middle	brain
45	chr21:46522400-46525000	Enhancers	HUVEC	blood vessel
46	chr21:46522400-46525600	Weak transcription	Osteobl	bone
47	chr21:46522600-46523400	Weak transcription	Primary T cells from cord blood	blood
48	chr21:46522600-46523400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr21:46522600-46523800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr21:46522600-46524000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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