Variant report

Variant	rs56181004
Chromosome Location	chr21:47890828-47890829
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47888811..47890884-chr21:47895000..47897814,3	MCF-7	breast:
2	chr21:47890738..47894078-chr21:47895318..47898007,3	K562	blood:
3	chr21:47887604..47890529-chr21:47890644..47893911,5	K562	blood:
4	chr21:47877528..47880072-chr21:47890482..47892466,2	MCF-7	breast:
5	chr21:47874840..47880520-chr21:47886599..47894853,12	K562	blood:
6	chr21:47881557..47884744-chr21:47886955..47890913,5	K562	blood:
7	chr21:47885090..47886650-chr21:47889873..47892841,2	K562	blood:
8	chr21:47879656..47881987-chr21:47889177..47890960,2	MCF-7	breast:
9	chr21:47876987..47881294-chr21:47888393..47893414,5	K562	blood:
10	chr21:47889351..47891047-chr21:47896142..47899048,2	K562	blood:
11	chr21:47890468..47894003-chr21:47902354..47905645,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160305	Chromatin interaction
ENSG00000223692	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs2839260	0.89[ASN][1000 genomes]
rs2839282	1.00[ASN][1000 genomes]
rs2839291	0.89[ASN][1000 genomes]
rs2839293	0.89[ASN][1000 genomes]
rs2839300	0.89[ASN][1000 genomes]
rs35147998	1.00[ASN][1000 genomes]
rs4818844	0.89[ASN][1000 genomes]
rs4818845	1.00[ASN][1000 genomes]
rs4819254	1.00[ASN][1000 genomes]
rs4819258	0.89[ASN][1000 genomes]
rs4819259	0.89[ASN][1000 genomes]
rs4819260	0.89[ASN][1000 genomes]
rs4819261	0.89[ASN][1000 genomes]
rs55735202	0.89[ASN][1000 genomes]
rs55992430	0.89[ASN][1000 genomes]
rs6518296	0.89[ASN][1000 genomes]
rs66514870	0.89[ASN][1000 genomes]
rs66596180	0.89[ASN][1000 genomes]
rs66991124	0.89[ASN][1000 genomes]
rs67285811	0.89[ASN][1000 genomes]
rs7276841	0.89[ASN][1000 genomes]
rs743347	0.89[ASN][1000 genomes]
rs8131943	0.89[ASN][1000 genomes]
rs9977528	0.89[ASN][1000 genomes]
rs9981156	0.89[ASN][1000 genomes]
rs9981272	0.89[ASN][1000 genomes]
rs9984082	0.89[ASN][1000 genomes]
rs9984590	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	esv2762115	chr21:47885139-47895430	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56181004	DIP2A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47879800-47892000	Weak transcription	Lung	lung
2	chr21:47880000-47892000	Weak transcription	Liver	Liver
3	chr21:47880000-47892000	Weak transcription	Small Intestine	intestine
4	chr21:47880000-47892200	Weak transcription	Pancreas	Pancrea
5	chr21:47880000-47892200	Weak transcription	Spleen	Spleen
6	chr21:47880000-47892400	Weak transcription	Gastric	stomach
7	chr21:47880000-47900200	Weak transcription	Esophagus	oesophagus
8	chr21:47880000-47900400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr21:47880000-47905800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr21:47880000-47916800	Weak transcription	Aorta	Aorta
11	chr21:47880200-47892400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr21:47880200-47900000	Weak transcription	Colonic Mucosa	Colon
13	chr21:47880200-47902800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr21:47880200-47903200	Weak transcription	Stomach Mucosa	stomach
15	chr21:47880200-47909400	Weak transcription	A549	lung
16	chr21:47880200-47911600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr21:47880200-47916600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr21:47880400-47891400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr21:47880400-47892000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr21:47880400-47892200	Weak transcription	Right Ventricle	heart
21	chr21:47880400-47893800	Weak transcription	Fetal Intestine Large	intestine
22	chr21:47880400-47896800	Weak transcription	Fetal Lung	lung
23	chr21:47880400-47898800	Weak transcription	HSMM	muscle
24	chr21:47880400-47906600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr21:47880400-47908800	Weak transcription	Fetal Brain Male	brain
26	chr21:47880400-47908800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr21:47880400-47909200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr21:47880400-47909200	Weak transcription	NHLF	lung
29	chr21:47880400-47909400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr21:47880400-47916600	Weak transcription	Fetal Kidney	kidney
31	chr21:47880400-47916600	Weak transcription	HSMMtube	muscle
32	chr21:47880400-47918000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr21:47880400-47918200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr21:47880400-47931200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr21:47880600-47892000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr21:47880800-47902600	Weak transcription	Brain Angular Gyrus	brain
37	chr21:47881800-47891000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr21:47882000-47891800	Weak transcription	HepG2	liver
39	chr21:47882000-47898800	Weak transcription	Fetal Brain Female	brain
40	chr21:47882200-47891200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr21:47882200-47891400	Weak transcription	Brain Substantia Nigra	brain
42	chr21:47882200-47892000	Weak transcription	Colon Smooth Muscle	Colon
43	chr21:47882200-47892200	Weak transcription	Left Ventricle	heart
44	chr21:47882200-47892200	Weak transcription	Ovary	ovary
45	chr21:47882200-47892200	Weak transcription	Psoas Muscle	Psoas
46	chr21:47882200-47898800	Weak transcription	Fetal Heart	heart
47	chr21:47882400-47891000	Weak transcription	Brain Anterior Caudate	brain
48	chr21:47882400-47891800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr21:47882400-47892000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr21:47882400-47900600	Weak transcription	Brain Inferior Temporal Lobe	brain

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