Variant report

Variant	rs16979293
Chromosome Location	chr21:47921759-47921760
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47914976..47919873-chr21:47920315..47923447,4	K562	blood:
2	chr21:47906802..47909660-chr21:47919429..47921777,2	K562	blood:
3	chr21:47920966..47922800-chr21:47934411..47936721,2	K562	blood:
4	chr21:47877189..47880495-chr21:47917559..47921814,4	K562	blood:
5	chr21:47920604..47922605-chr21:48015742..48017826,2	K562	blood:
6	chr21:47919811..47922466-chr21:47933322..47936721,3	K562	blood:
7	chr21:47920603..47923397-chr21:47924852..47927519,2	K562	blood:

Variant related genes	Relation type
ENSG00000160305	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10483082	0.82[YRI][hapmap]
rs16979101	1.00[AMR][1000 genomes]
rs16979333	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58154505	1.00[AMR][1000 genomes]
rs61160919	0.82[AFR][1000 genomes]
rs61735810	1.00[AMR][1000 genomes]
rs9975723	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
2	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
3	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
4	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a
5	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
6	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
7	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
8	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
9	nsv948761	chr21:47587940-48069930	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	n/a
10	nsv1055239	chr21:47591378-48090317	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
11	nsv544495	chr21:47591378-48090317	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
12	nsv949706	chr21:47625544-48069930	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
13	nsv529496	chr21:47634193-48090317	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
14	nsv933061	chr21:47746204-48031515	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
15	nsv1062858	chr21:47750884-48091343	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
16	nsv1056321	chr21:47835146-47973412	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
17	nsv917208	chr21:47836346-47988603	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
18	nsv1058397	chr21:47851176-48091343	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
19	nsv459312	chr21:47856106-47985655	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS 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	30 gene(s)	inside rSNPs	n/a
20	nsv587998	chr21:47856106-47985655	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
21	nsv1065502	chr21:47865215-48091343	Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
22	nsv1056152	chr21:47875370-47979259	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
23	nsv1061442	chr21:47875370-48091343	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
24	nsv1059466	chr21:47894705-48096945	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	n/a
25	nsv1061185	chr21:47901250-48096945	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	n/a
26	nsv1057566	chr21:47915583-48029698	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47880400-47931200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr21:47904200-47931200	Weak transcription	Psoas Muscle	Psoas
3	chr21:47909600-47932400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr21:47910400-47929000	Weak transcription	Fetal Heart	heart
5	chr21:47911400-47926400	Strong transcription	Fetal Muscle Leg	muscle
6	chr21:47911400-47933600	Strong transcription	Fetal Muscle Trunk	muscle
7	chr21:47912600-47926800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr21:47913000-47935000	Weak transcription	Right Atrium	heart
9	chr21:47913400-47931400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:47915200-47933400	Strong transcription	Fetal Stomach	stomach
11	chr21:47916000-47922000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr21:47916800-47926000	Strong transcription	Fetal Brain Female	brain
13	chr21:47916800-47929200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr21:47917000-47922200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr21:47918800-47924000	Weak transcription	Brain Angular Gyrus	brain
16	chr21:47918800-47924000	Weak transcription	Fetal Kidney	kidney
17	chr21:47918800-47929000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr21:47918800-47930000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr21:47918800-47932600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr21:47919000-47922200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr21:47919000-47931200	Weak transcription	Fetal Brain Male	brain
22	chr21:47919200-47922000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr21:47919400-47924000	Weak transcription	Fetal Lung	lung
24	chr21:47919400-47929600	Weak transcription	Esophagus	oesophagus
25	chr21:47919400-47933400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr21:47919600-47924000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr21:47919600-47924200	Weak transcription	NHLF	lung
28	chr21:47919800-47924200	Weak transcription	Colon Smooth Muscle	Colon
29	chr21:47920000-47921800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr21:47920200-47921800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr21:47920200-47924000	Weak transcription	Spleen	Spleen
32	chr21:47920200-47924200	Weak transcription	Aorta	Aorta
33	chr21:47920200-47924200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr21:47920200-47924200	Weak transcription	Right Ventricle	heart
35	chr21:47920200-47925200	Weak transcription	Brain Germinal Matrix	brain
36	chr21:47920200-47928600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr21:47920200-47930800	Weak transcription	Pancreas	Pancrea
38	chr21:47920400-47922600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr21:47920400-47922600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr21:47920400-47922600	Weak transcription	Fetal Thymus	thymus
41	chr21:47920400-47922600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr21:47920400-47923600	Weak transcription	Fetal Intestine Small	intestine
43	chr21:47920400-47923600	Weak transcription	Lung	lung
44	chr21:47920400-47923800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr21:47920400-47924000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr21:47920400-47924000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr21:47920400-47924000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr21:47920400-47924000	Weak transcription	Brain Anterior Caudate	brain
49	chr21:47920400-47924000	Weak transcription	Ovary	ovary
50	chr21:47920400-47924200	Weak transcription	Left Ventricle	heart

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