Variant report

Variant	rs57020111
Chromosome Location	chr21:46640676-46640677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:46637241..46640221-chr21:46640373..46643310,2	MCF-7	breast:
2	chr21:46639784..46642499-chr21:46642980..46645801,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12627516	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34806772	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59804232	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61096652	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73907277	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9979141	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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
18	nsv913999	chr21:46636844-46765251	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 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	chr21:46610000-46644800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr21:46610400-46641000	Weak transcription	Brain Germinal Matrix	brain
5	chr21:46610400-46641800	Weak transcription	HepG2	liver
6	chr21:46610800-46641000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr21:46610800-46641200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:46610800-46647800	Weak transcription	Brain Angular Gyrus	brain
9	chr21:46611000-46644600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr21:46611000-46645000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr21:46625000-46645000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr21:46625600-46640800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr21:46628600-46644200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr21:46628800-46644600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr21:46628800-46644800	Strong transcription	HSMM	muscle
16	chr21:46629600-46645400	Weak transcription	NHLF	lung
17	chr21:46631000-46640800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr21:46631000-46641000	Weak transcription	Brain Hippocampus Middle	brain
19	chr21:46632600-46640800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr21:46632600-46643200	Weak transcription	HUVEC	blood vessel
21	chr21:46632600-46644200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr21:46632600-46647000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr21:46635200-46640800	Weak transcription	Ovary	ovary
24	chr21:46637400-46640800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr21:46637400-46646000	Strong transcription	Hela-S3	cervix
26	chr21:46637800-46644000	Strong transcription	Primary T cells from cord blood	blood
27	chr21:46637800-46644000	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr21:46637800-46644000	Weak transcription	Psoas Muscle	Psoas
29	chr21:46637800-46644800	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr21:46637800-46668600	Weak transcription	Right Atrium	heart
31	chr21:46638000-46640800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr21:46638000-46644200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr21:46638200-46642200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr21:46638200-46643600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr21:46638200-46644000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr21:46638400-46642000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr21:46638400-46644000	Strong transcription	Fetal Muscle Trunk	muscle
38	chr21:46638400-46644200	Strong transcription	Fetal Muscle Leg	muscle
39	chr21:46638400-46644400	Strong transcription	Fetal Stomach	stomach
40	chr21:46638400-46646400	Weak transcription	Fetal Intestine Large	intestine
41	chr21:46638600-46643600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr21:46638600-46646600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr21:46638800-46645000	Weak transcription	NH-A	brain
44	chr21:46639200-46644600	Strong transcription	Stomach Smooth Muscle	stomach
45	chr21:46639600-46640800	Enhancers	Placenta	Placenta
46	chr21:46639600-46641000	Enhancers	Fetal Brain Male	brain
47	chr21:46639600-46641200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr21:46639600-46641200	Enhancers	Fetal Thymus	thymus
49	chr21:46639600-46643800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr21:46639600-46644000	Strong transcription	Gastric	stomach

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