Variant report

Variant	rs73907275
Chromosome Location	chr21:46632476-46632477
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46628488..46630403-chr21:46630969..46633237,2	K562	blood:
2	chr21:46618795..46620670-chr21:46629791..46632609,2	MCF-7	breast:
3	chr21:46624737..46628208-chr21:46629925..46633186,4	K562	blood:
4	chr21:46626961..46628588-chr21:46630742..46633006,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11911781	1.00[EUR][1000 genomes]
rs2104815	1.00[EUR][1000 genomes]
rs28758785	1.00[EUR][1000 genomes]
rs35019694	1.00[EUR][1000 genomes]
rs55654773	1.00[EUR][1000 genomes]
rs55888069	1.00[EUR][1000 genomes]
rs55922218	1.00[EUR][1000 genomes]
rs55986221	1.00[EUR][1000 genomes]
rs56335759	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60462990	1.00[EUR][1000 genomes]
rs60490962	1.00[EUR][1000 genomes]
rs60708720	1.00[EUR][1000 genomes]
rs61103046	1.00[EUR][1000 genomes]
rs61106335	1.00[EUR][1000 genomes]
rs61631321	1.00[EUR][1000 genomes]
rs6518222	1.00[EUR][1000 genomes]
rs7276074	1.00[EUR][1000 genomes]
rs73371024	1.00[EUR][1000 genomes]
rs73371064	1.00[EUR][1000 genomes]
rs73907263	1.00[EUR][1000 genomes]
rs73907267	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73907271	1.00[EUR][1000 genomes]
rs73907272	1.00[EUR][1000 genomes]
rs73907273	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73907276	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73907280	1.00[EUR][1000 genomes]
rs73907281	1.00[EUR][1000 genomes]
rs73907300	1.00[EUR][1000 genomes]
rs73907406	1.00[EUR][1000 genomes]
rs73907419	1.00[EUR][1000 genomes]
rs73907420	1.00[EUR][1000 genomes]
rs73907433	1.00[EUR][1000 genomes]
rs73907434	1.00[EUR][1000 genomes]
rs73907435	1.00[EUR][1000 genomes]
rs73907438	1.00[EUR][1000 genomes]
rs73907440	1.00[EUR][1000 genomes]
rs73910606	1.00[EUR][1000 genomes]
rs73910619	1.00[EUR][1000 genomes]
rs73910626	1.00[EUR][1000 genomes]
rs73910628	1.00[EUR][1000 genomes]
rs73910633	1.00[EUR][1000 genomes]
rs8128077	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1059771	chr21:46561482-46830602	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv544481	chr21:46561482-46830602	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1063943	chr21:46571988-46819424	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv544482	chr21:46571988-46819424	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1064859	chr21:46571988-46830602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv544483	chr21:46571988-46830602	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv1061691	chr21:46572641-46831862	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv544484	chr21:46572641-46831862	Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	nsv587839	chr21:46580370-46837709	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
11	nsv587840	chr21:46580370-46839904	Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
12	nsv916959	chr21:46585681-46831845	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
13	nsv1063721	chr21:46610599-46907894	Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
14	nsv1059779	chr21:46611859-46891352	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
15	nsv544485	chr21:46611859-46891352	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
16	nsv1059805	chr21:46618210-46736943	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	nsv587841	chr21:46619840-46647078	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46589000-46646000	Weak transcription	Colonic Mucosa	Colon
2	chr21:46606800-46640800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr21:46609600-46634600	Weak transcription	Fetal Heart	heart
4	chr21:46610000-46634800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr21:46610000-46644800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr21:46610200-46634400	Weak transcription	Psoas Muscle	Psoas
7	chr21:46610400-46641000	Weak transcription	Brain Germinal Matrix	brain
8	chr21:46610400-46641800	Weak transcription	HepG2	liver
9	chr21:46610800-46640200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr21:46610800-46641000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr21:46610800-46641200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:46610800-46647800	Weak transcription	Brain Angular Gyrus	brain
13	chr21:46611000-46639600	Weak transcription	Fetal Brain Male	brain
14	chr21:46611000-46639600	Weak transcription	Gastric	stomach
15	chr21:46611000-46644600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr21:46611000-46645000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr21:46617600-46632600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr21:46619000-46633000	Strong transcription	Stomach Smooth Muscle	stomach
19	chr21:46620800-46633600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr21:46621200-46633400	Strong transcription	HSMMtube	muscle
21	chr21:46621800-46640400	Weak transcription	Fetal Brain Female	brain
22	chr21:46622000-46640600	Weak transcription	Brain Substantia Nigra	brain
23	chr21:46622200-46632600	Strong transcription	Adipose Nuclei	Adipose
24	chr21:46622400-46635400	Strong transcription	Primary T cells from cord blood	blood
25	chr21:46622800-46640600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr21:46623000-46633400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr21:46623200-46633800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr21:46623400-46632800	Strong transcription	Hela-S3	cervix
29	chr21:46623600-46634600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr21:46624600-46638600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr21:46625000-46645000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr21:46625200-46640200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr21:46625600-46639600	Weak transcription	Placenta	Placenta
34	chr21:46625600-46640800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr21:46626000-46636600	Weak transcription	Brain Anterior Caudate	brain
36	chr21:46626600-46632600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr21:46626600-46633000	Strong transcription	Fetal Stomach	stomach
38	chr21:46627200-46633200	Strong transcription	Fetal Muscle Leg	muscle
39	chr21:46628200-46639600	Weak transcription	NHEK	skin
40	chr21:46628400-46632600	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr21:46628600-46638000	Weak transcription	HMEC	breast
42	chr21:46628600-46640200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr21:46628600-46640400	Weak transcription	Esophagus	oesophagus
44	chr21:46628600-46644200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr21:46628800-46644600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr21:46628800-46644800	Strong transcription	HSMM	muscle
47	chr21:46629200-46632600	Strong transcription	Lung	lung
48	chr21:46629600-46633000	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr21:46629600-46638400	Weak transcription	Osteobl	bone
50	chr21:46629600-46645400	Weak transcription	NHLF	lung

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