Variant report

Variant	rs55808731
Chromosome Location	chr21:47718153-47718154
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47715739..47718156-chr21:47738100..47740706,2	K562	blood:
2	chr21:47717404..47720722-chr21:47740886..47746438,5	K562	blood:
3	chr21:47708141..47711504-chr21:47716399..47719423,3	K562	blood:
4	chr21:47717352..47719126-chr21:47738602..47740767,2	MCF-7	breast:
5	chr21:47700722..47725192-chr21:47732201..47746452,77	K562	blood:
6	chr21:47705635..47707803-chr21:47716511..47719183,2	K562	blood:
7	chr21:47704377..47706136-chr21:47717916..47719656,3	MCF-7	breast:
8	chr21:47706092..47709051-chr21:47718044..47720782,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160299	Chromatin interaction
ENSG00000182362	Chromatin interaction
ENSG00000160294	Chromatin interaction
ENSG00000160298	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10470249	1.00[ASN][1000 genomes]
rs11909543	1.00[ASN][1000 genomes]
rs11910988	1.00[ASN][1000 genomes]
rs1556338	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16978976	1.00[ASN][1000 genomes]
rs17293390	1.00[ASN][1000 genomes]
rs2839151	1.00[ASN][1000 genomes]
rs2839165	1.00[ASN][1000 genomes]
rs2839219	1.00[ASN][1000 genomes]
rs2839252	1.00[ASN][1000 genomes]
rs2839264	1.00[ASN][1000 genomes]
rs2839266	1.00[ASN][1000 genomes]
rs34984641	1.00[ASN][1000 genomes]
rs4365550	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4438580	1.00[ASN][1000 genomes]
rs55819909	1.00[ASN][1000 genomes]
rs56034615	1.00[ASN][1000 genomes]
rs56083834	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56127585	1.00[ASN][1000 genomes]
rs56317629	1.00[ASN][1000 genomes]
rs56333186	1.00[ASN][1000 genomes]
rs56350296	1.00[ASN][1000 genomes]
rs56376803	1.00[ASN][1000 genomes]
rs58201958	1.00[ASN][1000 genomes]
rs58861127	1.00[ASN][1000 genomes]
rs61140994	1.00[ASN][1000 genomes]
rs73144714	1.00[ASN][1000 genomes]
rs73144730	1.00[ASN][1000 genomes]
rs73144732	1.00[ASN][1000 genomes]
rs73144734	1.00[ASN][1000 genomes]
rs73144744	1.00[ASN][1000 genomes]
rs73144798	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73146707	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73146709	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73146739	1.00[ASN][1000 genomes]
rs73148704	1.00[ASN][1000 genomes]
rs747439	1.00[ASN][1000 genomes]
rs8127800	1.00[ASN][1000 genomes]
rs8133508	1.00[ASN][1000 genomes]
rs8134429	1.00[ASN][1000 genomes]
rs9647242	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	nsv587975	chr21:47661235-47830843	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a
22	nsv432159	chr21:47673247-47854392	Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a
23	nsv527355	chr21:47678774-47863025	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	n/a
24	nsv914135	chr21:47681041-47762374	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
25	nsv914136	chr21:47681041-47900994	Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	n/a
26	nsv1064588	chr21:47700051-47788823	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
27	nsv544496	chr21:47700051-47788823	Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
28	nsv914137	chr21:47700498-47862624	Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	n/a
29	nsv914138	chr21:47700498-47866227	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	n/a
30	nsv914139	chr21:47706737-47786494	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
31	nsv914140	chr21:47712185-47866227	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	n/a
32	nsv914141	chr21:47712412-47757419	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	n/a
33	nsv587980	chr21:47715296-47722530	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	n/a

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs55808731	SPATC1L	cis	Whole Blood	GTEx
rs55808731	C21orf57	Cis_1M	lymphoblastoid	RTeQTL
rs55808731	SPATC1L	cis	Adipose Subcutaneous	GTEx
rs55808731	SPATC1L	cis	Thyroid	GTEx
rs55808731	SPATC1L	cis	lung	GTEx
rs55808731	SPATC1L	cis	Muscle Skeletal	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47710000-47727600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr21:47710200-47720400	Weak transcription	Hela-S3	cervix
3	chr21:47712000-47719200	Weak transcription	A549	lung
4	chr21:47712400-47719000	Weak transcription	Dnd41	blood
5	chr21:47715400-47719400	Weak transcription	GM12878-XiMat	blood
6	chr21:47715800-47718800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:47716200-47721400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr21:47716200-47727200	Weak transcription	HSMMtube	muscle
9	chr21:47716400-47719200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:47716400-47727000	Weak transcription	HSMM	muscle
11	chr21:47716600-47719200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr21:47716600-47724400	Weak transcription	K562	blood
13	chr21:47716800-47738600	Weak transcription	HepG2	liver
14	chr21:47717200-47718200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
15	chr21:47717200-47718200	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr21:47717200-47718200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr21:47717200-47718200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr21:47717200-47718200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr21:47717200-47718200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
20	chr21:47717200-47718200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
21	chr21:47717200-47718200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
22	chr21:47717200-47718200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
23	chr21:47717200-47718200	Active TSS	Lung	lung
24	chr21:47717200-47718200	Flanking Active TSS	Right Ventricle	heart
25	chr21:47717200-47718200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
26	chr21:47717200-47718400	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr21:47717200-47718400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
28	chr21:47717200-47718400	Active TSS	Primary T cells from cord blood	blood
29	chr21:47717200-47718400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr21:47717200-47718400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr21:47717200-47718400	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr21:47717200-47718400	Bivalent Enhancer	Fetal Brain Male	brain
33	chr21:47717200-47718400	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr21:47717200-47718400	Active TSS	Right Atrium	heart
35	chr21:47717400-47718200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr21:47717400-47718200	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr21:47717400-47718200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr21:47717400-47718200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr21:47717400-47718200	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr21:47717400-47718200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
41	chr21:47717400-47718200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr21:47717400-47718200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr21:47717400-47718200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr21:47717400-47718200	Flanking Active TSS	Liver	Liver
45	chr21:47717400-47718200	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr21:47717400-47718200	Active TSS	Brain Cingulate Gyrus	brain
47	chr21:47717400-47718200	Active TSS	Brain Substantia Nigra	brain
48	chr21:47717400-47718200	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
49	chr21:47717400-47718200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
50	chr21:47717400-47718200	Active TSS	Pancreatic Islets	Pancreatic Islet

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