Variant report

Variant	rs7283507
Chromosome Location	chr21:47918662-47918663
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47877189..47880495-chr21:47917559..47921814,4	K562	blood:
2	chr21:47914976..47919873-chr21:47920315..47923447,4	K562	blood:
3	chr21:47877783..47881429-chr21:47917559..47920514,3	K562	blood:
4	chr21:47744351..47747187-chr21:47918632..47920661,2	K562	blood:

Variant related genes	Relation type
ENSG00000160305	Chromatin interaction
ENSG00000160299	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11508685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16979254	0.93[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892693	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839219	1.00[ASN][1000 genomes]
rs2839252	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839264	1.00[ASN][1000 genomes]
rs2839266	1.00[ASN][1000 genomes]
rs2839303	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839315	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839316	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4365550	1.00[CEU][hapmap]
rs55878170	1.00[ASN][1000 genomes]
rs56034615	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73146739	1.00[ASN][1000 genomes]
rs73148704	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73152856	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73152858	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs747439	0.82[CEU][hapmap];1.00[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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7283507	C21orf57	Cis_1M	lymphoblastoid	RTeQTL
rs7283507	SPATC1L	cis	Thyroid	GTEx
rs7283507	FTCD	cis	Adipose Subcutaneous	GTEx
rs7283507	SPATC1L	cis	lung	GTEx
rs7283507	SPATC1L	cis	Whole Blood	GTEx
rs7283507	SPATC1L	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	chr21:47892800-47920200	Weak transcription	Small Intestine	intestine
3	chr21:47903600-47919200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr21:47904200-47920200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr21:47904200-47920200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr21:47904200-47931200	Weak transcription	Psoas Muscle	Psoas
7	chr21:47904600-47920200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr21:47904800-47918800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr21:47904800-47920200	Strong transcription	Duodenum Mucosa	Duodenum
10	chr21:47905000-47920000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr21:47905000-47920600	Strong transcription	Placenta	Placenta
12	chr21:47905200-47919200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr21:47905400-47919200	Strong transcription	Primary T cells from cord blood	blood
14	chr21:47905400-47919200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr21:47905800-47920200	Strong transcription	Liver	Liver
16	chr21:47906200-47920400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr21:47907400-47919600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr21:47907800-47921000	Strong transcription	Dnd41	blood
19	chr21:47908600-47920200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr21:47908800-47919200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr21:47908800-47920200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr21:47909000-47919400	Strong transcription	Primary B cells from peripheral blood	blood
23	chr21:47909000-47919800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr21:47909200-47920000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr21:47909200-47921000	Strong transcription	Fetal Intestine Large	intestine
26	chr21:47909400-47919000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr21:47909600-47932400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr21:47909800-47920000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr21:47910200-47919200	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr21:47910200-47920200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr21:47910400-47929000	Weak transcription	Fetal Heart	heart
32	chr21:47910600-47920000	Strong transcription	HSMM	muscle
33	chr21:47911400-47926400	Strong transcription	Fetal Muscle Leg	muscle
34	chr21:47911400-47933600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr21:47912000-47920600	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr21:47912600-47926800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr21:47913000-47935000	Weak transcription	Right Atrium	heart
38	chr21:47913400-47919200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr21:47913400-47931400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr21:47913800-47918800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr21:47913800-47919200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr21:47913800-47919400	Strong transcription	Primary B cells from cord blood	blood
43	chr21:47914000-47920200	Strong transcription	Adipose Nuclei	Adipose
44	chr21:47914200-47920000	Strong transcription	Hela-S3	cervix
45	chr21:47914400-47918800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr21:47914600-47919800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr21:47915000-47919800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr21:47915200-47933400	Strong transcription	Fetal Stomach	stomach
49	chr21:47915600-47919800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr21:47915800-47919800	Strong transcription	GM12878-XiMat	blood

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