Variant report

Variant	rs9984986
Chromosome Location	chr21:47638463-47638464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:47638264-47638509	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47635188..47639010-chr21:47648913..47651565,3	K562	blood:
2	chr21:47636612..47639607-chr21:47641747..47644715,2	K562	blood:
3	chr21:47637462..47639239-chr21:47704514..47706562,2	MCF-7	breast:
4	chr21:47637510..47639750-chr21:47649696..47652340,2	K562	blood:
5	chr21:47637631..47640385-chr21:47742286..47744601,2	K562	blood:
6	chr21:47636662..47640838-chr21:47647206..47649915,5	MCF-7	breast:
7	chr21:47633762..47640190-chr21:47646866..47650293,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000223901	TF binding region
ENSG00000160294	Chromatin interaction
ENSG00000160299	Chromatin interaction
ENSG00000160298	Chromatin interaction
ENSG00000215424	Chromatin interaction
ENSG00000182362	Chromatin interaction
ENSG00000160285	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10854480	0.86[ASN][1000 genomes]
rs12482209	0.90[ASN][1000 genomes]
rs13046451	0.97[ASN][1000 genomes]
rs13046494	0.84[ASN][1000 genomes]
rs13049175	0.97[ASN][1000 genomes]
rs13049797	0.84[ASN][1000 genomes]
rs13049893	0.84[ASN][1000 genomes]
rs13050025	0.84[ASN][1000 genomes]
rs13052226	0.83[ASN][1000 genomes]
rs13052376	0.84[ASN][1000 genomes]
rs13052495	0.84[ASN][1000 genomes]
rs13052701	0.91[ASN][1000 genomes]
rs13052806	0.95[ASN][1000 genomes]
rs17176110	0.84[ASN][1000 genomes]
rs17176513	0.80[ASN][1000 genomes]
rs17176520	0.80[ASN][1000 genomes]
rs17183123	0.87[ASN][1000 genomes]
rs2001289	0.85[ASN][1000 genomes]
rs2001809	0.86[ASN][1000 genomes]
rs2014276	0.84[ASN][1000 genomes]
rs2032226	0.88[ASN][1000 genomes]
rs2156117	0.87[ASN][1000 genomes]
rs2187118	0.88[ASN][1000 genomes]
rs2187120	0.88[ASN][1000 genomes]
rs2187121	0.88[ASN][1000 genomes]
rs2187122	0.88[ASN][1000 genomes]
rs2250213	0.87[ASN][1000 genomes]
rs2254524	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2276257	0.83[ASN][1000 genomes]
rs2277826	0.97[ASN][1000 genomes]
rs2280955	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2280956	0.97[ASN][1000 genomes]
rs2280957	0.97[ASN][1000 genomes]
rs2280958	0.97[ASN][1000 genomes]
rs2280959	0.97[ASN][1000 genomes]
rs2330353	0.83[ASN][1000 genomes]
rs2330408	0.88[ASN][1000 genomes]
rs2839139	0.88[ASN][1000 genomes]
rs2839140	0.89[ASN][1000 genomes]
rs2839141	0.89[ASN][1000 genomes]
rs2839144	0.89[ASN][1000 genomes]
rs2839146	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2839155	0.97[ASN][1000 genomes]
rs2839157	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2839160	0.92[ASN][1000 genomes]
rs2839161	0.93[ASN][1000 genomes]
rs2839167	0.90[ASN][1000 genomes]
rs2839170	0.88[ASN][1000 genomes]
rs2839171	0.87[ASN][1000 genomes]
rs2839173	0.86[ASN][1000 genomes]
rs2839174	0.86[ASN][1000 genomes]
rs2839175	0.88[ASN][1000 genomes]
rs2839176	0.87[ASN][1000 genomes]
rs2839196	0.84[ASN][1000 genomes]
rs2839197	0.84[ASN][1000 genomes]
rs2839199	0.82[ASN][1000 genomes]
rs2839200	0.84[ASN][1000 genomes]
rs2839984	0.87[ASN][1000 genomes]
rs2968	0.85[ASN][1000 genomes]
rs35679325	0.97[ASN][1000 genomes]
rs3788252	0.86[ASN][1000 genomes]
rs4535149	0.83[ASN][1000 genomes]
rs4818828	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4818832	0.84[ASN][1000 genomes]
rs4819213	0.89[ASN][1000 genomes]
rs4819214	0.90[ASN][1000 genomes]
rs4819215	0.88[ASN][1000 genomes]
rs4819217	0.96[ASN][1000 genomes]
rs4819218	0.93[ASN][1000 genomes]
rs4819223	0.82[ASN][1000 genomes]
rs4819225	0.84[ASN][1000 genomes]
rs55689527	0.89[ASN][1000 genomes]
rs56840278	0.84[ASN][1000 genomes]
rs56955294	0.84[ASN][1000 genomes]
rs59828751	0.84[ASN][1000 genomes]
rs62212862	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62226486	0.84[ASN][1000 genomes]
rs62226489	0.83[ASN][1000 genomes]
rs6518278	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6518282	0.94[ASN][1000 genomes]
rs6518285	0.95[ASN][1000 genomes]
rs7280110	0.89[ASN][1000 genomes]
rs7282841	0.90[ASN][1000 genomes]
rs8128380	0.90[ASN][1000 genomes]
rs914247	0.88[ASN][1000 genomes]
rs915803	0.82[ASN][1000 genomes]
rs915804	0.91[ASN][1000 genomes]
rs9717	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9976233	0.89[ASN][1000 genomes]
rs9979525	0.90[ASN][1000 genomes]
rs9984242	0.95[ASN][1000 genomes]
rs9984708	0.92[ASN][1000 genomes]
rs999691	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[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	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
2	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
3	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
4	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
5	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
6	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
7	nsv914079	chr21:47243074-47650362	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv1061087	chr21:47476088-47643219	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a
15	nsv1060978	chr21:47488073-47833640	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	n/a
16	nsv914101	chr21:47491014-47650362	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a
17	nsv914116	chr21:47535248-47650362	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
18	nsv519904	chr21:47583506-47881309	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
19	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
20	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
21	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
22	nsv1062031	chr21:47608580-47643219	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
23	nsv933354	chr21:47609029-47851401	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
24	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
25	nsv914134	chr21:47632995-47712185	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	n/a
26	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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs9984986	YBEY	cis	Esophagus Muscularis	GTEx
rs9984986	C21orf56	Cis_1M	lymphoblastoid	RTeQTL
rs9984986	YBEY	cis	Whole Blood	GTEx
rs9984986	MCM3AP	Cis_1M	lymphoblastoid	RTeQTL
rs9984986	MCM3AP	cis	Skin Sun Exposed Lower leg	GTEx
rs9984986	YBEY	cis	Esophagus Mucosa	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47605200-47646200	Weak transcription	Psoas Muscle	Psoas
2	chr21:47605400-47646200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr21:47605400-47646200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr21:47606600-47639800	Strong transcription	Fetal Brain Female	brain
5	chr21:47607400-47645200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr21:47607400-47646200	Strong transcription	Fetal Stomach	stomach
7	chr21:47610000-47644000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr21:47611600-47642400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:47611600-47643400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:47612200-47644400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr21:47612200-47645600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr21:47612400-47644400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr21:47614200-47646000	Weak transcription	Fetal Brain Male	brain
14	chr21:47614200-47646200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr21:47617000-47640400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr21:47618400-47643400	Strong transcription	NHEK	skin
17	chr21:47619200-47643400	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr21:47621000-47641200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr21:47622400-47643200	Strong transcription	Liver	Liver
20	chr21:47622400-47643400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr21:47622600-47643000	Strong transcription	Ovary	ovary
22	chr21:47622600-47643400	Strong transcription	Fetal Intestine Small	intestine
23	chr21:47622800-47639400	Strong transcription	Brain Germinal Matrix	brain
24	chr21:47622800-47642400	Strong transcription	Stomach Smooth Muscle	stomach
25	chr21:47622800-47643400	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr21:47623000-47640800	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr21:47623200-47643400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr21:47623200-47643400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr21:47623400-47642400	Strong transcription	Adipose Nuclei	Adipose
30	chr21:47623400-47644400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr21:47624800-47639400	Strong transcription	Brain Anterior Caudate	brain
32	chr21:47624800-47639600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr21:47624800-47642800	Strong transcription	Aorta	Aorta
34	chr21:47624800-47643000	Strong transcription	Thymus	Thymus
35	chr21:47624800-47643400	Strong transcription	NHLF	lung
36	chr21:47625000-47642000	Strong transcription	Pancreas	Pancrea
37	chr21:47625200-47639600	Weak transcription	HSMMtube	muscle
38	chr21:47625600-47644400	Weak transcription	Hela-S3	cervix
39	chr21:47626000-47646000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr21:47626400-47646400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr21:47626600-47641400	Weak transcription	Osteobl	bone
42	chr21:47627400-47642400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr21:47627800-47647000	Weak transcription	Primary B cells from cord blood	blood
44	chr21:47628400-47639400	Weak transcription	Fetal Lung	lung
45	chr21:47629200-47639000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr21:47629200-47646200	Weak transcription	Small Intestine	intestine
47	chr21:47629800-47641000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr21:47630000-47639200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr21:47630000-47640000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr21:47630400-47647000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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