Variant report

Variant	rs9978195
Chromosome Location	chr21:47923092-47923093
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	chr21:47914976..47919873-chr21:47920315..47923447,4	K562	blood:
2	chr21:47920603..47923397-chr21:47924852..47927519,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11089076	0.83[EUR][1000 genomes]
rs11701286	0.84[EUR][1000 genomes]
rs11701512	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2016807	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2032110	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2330591	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2330592	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2330595	0.81[ASN][1000 genomes]
rs2839271	0.85[EUR][1000 genomes]
rs2839283	0.82[AMR][1000 genomes]
rs2839289	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2839292	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4143362	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62224255	0.84[EUR][1000 genomes]
rs7283381	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs762251	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8129188	0.88[AMR][1000 genomes]
rs8132320	0.83[EUR][1000 genomes]
rs8134014	0.81[AMR][1000 genomes]
rs9637223	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]

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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9978195	C21orf57	Cis_1M	lymphoblastoid	RTeQTL
rs9978195	DIP2A	Cis_1M	lymphoblastoid	RTeQTL
rs9978195	S100B	cis	Adipose Subcutaneous	GTEx

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	chr21:47916800-47926000	Strong transcription	Fetal Brain Female	brain
12	chr21:47916800-47929200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr21:47918800-47924000	Weak transcription	Brain Angular Gyrus	brain
14	chr21:47918800-47924000	Weak transcription	Fetal Kidney	kidney
15	chr21:47918800-47929000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:47918800-47930000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr21:47918800-47932600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr21:47919000-47931200	Weak transcription	Fetal Brain Male	brain
19	chr21:47919400-47924000	Weak transcription	Fetal Lung	lung
20	chr21:47919400-47929600	Weak transcription	Esophagus	oesophagus
21	chr21:47919400-47933400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr21:47919600-47924000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr21:47919600-47924200	Weak transcription	NHLF	lung
24	chr21:47919800-47924200	Weak transcription	Colon Smooth Muscle	Colon
25	chr21:47920200-47924000	Weak transcription	Spleen	Spleen
26	chr21:47920200-47924200	Weak transcription	Aorta	Aorta
27	chr21:47920200-47924200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr21:47920200-47924200	Weak transcription	Right Ventricle	heart
29	chr21:47920200-47925200	Weak transcription	Brain Germinal Matrix	brain
30	chr21:47920200-47928600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr21:47920200-47930800	Weak transcription	Pancreas	Pancrea
32	chr21:47920400-47923600	Weak transcription	Fetal Intestine Small	intestine
33	chr21:47920400-47923600	Weak transcription	Lung	lung
34	chr21:47920400-47923800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr21:47920400-47924000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr21:47920400-47924000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr21:47920400-47924000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr21:47920400-47924000	Weak transcription	Brain Anterior Caudate	brain
39	chr21:47920400-47924000	Weak transcription	Ovary	ovary
40	chr21:47920400-47924200	Weak transcription	Left Ventricle	heart
41	chr21:47920400-47926000	Weak transcription	Gastric	stomach
42	chr21:47920400-47929000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr21:47920600-47923800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr21:47920600-47923800	Weak transcription	Thymus	Thymus
45	chr21:47920600-47924000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr21:47920600-47924000	Weak transcription	Liver	Liver
47	chr21:47920600-47924000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr21:47920600-47924000	Weak transcription	Brain Substantia Nigra	brain
49	chr21:47920600-47924000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr21:47920600-47925600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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