Variant report

Variant	rs6518223
Chromosome Location	chr21:46714549-46714550
allele	C/T
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:2)
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	chr21:46711273..46715306-chr21:46820522..46825546,4	MCF-7	breast:
2	chr21:46713169..46715773-chr21:46797345..46799901,2	K562	blood:
3	chr21:46713320..46716237-chr21:46849544..46852168,2	MCF-7	breast:
4	chr21:46714289..46716397-chr21:46732857..46735620,2	K562	blood:
5	chr21:46700239..46703148-chr21:46713861..46716448,2	K562	blood:
6	chr21:46713813..46714802-chr21:46859039..46859572,2	K562	blood:
7	chr21:46712582..46714711-chr21:46724300..46726891,3	K562	blood:
8	chr21:46706676..46710875-chr21:46714092..46720289,6	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADARB1-3	chr21:46710386-46717269	NONHSAT082933
2	lnc-ADARB1-3	chr21:46710386-46717268	XLOC_013981

No data

Variant related genes	Relation type
ENSG00000186866	Chromatin interaction
ENSG00000182871	Chromatin interaction
ENSG00000184274	Chromatin interaction
ENSG00000215447	Chromatin interaction
ENSG00000228355	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10470258	0.81[JPT][hapmap]
rs1056099	0.81[JPT][hapmap]
rs1304487	0.81[JPT][hapmap]
rs13047598	0.81[JPT][hapmap]
rs1999333	0.81[JPT][hapmap]
rs2236445	0.81[JPT][hapmap]
rs2246697	0.81[JPT][hapmap]
rs2255774	0.81[JPT][hapmap]
rs2330011	0.81[JPT][hapmap]
rs2330012	0.81[JPT][hapmap]
rs2838826	0.81[JPT][hapmap]
rs2838827	0.81[JPT][hapmap]
rs2838828	0.81[JPT][hapmap]
rs2838829	0.81[JPT][hapmap]
rs2838831	0.81[JPT][hapmap]
rs2838832	0.81[JPT][hapmap]
rs2838833	0.81[JPT][hapmap]
rs2838834	0.81[JPT][hapmap]
rs2838839	0.81[JPT][hapmap]
rs2838840	0.81[JPT][hapmap]
rs2838845	0.81[JPT][hapmap]
rs2838854	0.81[JPT][hapmap]
rs2838855	0.81[JPT][hapmap]
rs2838857	0.81[JPT][hapmap]
rs2838858	0.81[JPT][hapmap]
rs2838859	0.82[CHB][hapmap]
rs2838860	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs2838862	0.81[JPT][hapmap]
rs2838864	0.81[JPT][hapmap]
rs2838866	0.81[JPT][hapmap]
rs2838867	0.81[JPT][hapmap]
rs2838868	0.87[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs3673	0.81[JPT][hapmap]
rs4819038	0.81[JPT][hapmap]
rs4819041	0.81[JPT][hapmap]
rs4819044	0.81[JPT][hapmap]
rs4819049	0.81[JPT][hapmap]
rs4819051	0.81[JPT][hapmap]
rs4819053	0.80[CHD][hapmap];0.81[JPT][hapmap]
rs7276828	0.81[JPT][hapmap]
rs7283915	0.81[JPT][hapmap]
rs8126930	0.81[JPT][hapmap]
rs8133697	0.91[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs8134392	0.81[JPT][hapmap]
rs914214	0.81[JPT][hapmap]
rs914215	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs914218	0.81[JPT][hapmap]
rs9753963	0.81[JPT][hapmap]
rs9977178	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1059771	chr21:46561482-46830602	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv544481	chr21:46561482-46830602	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1063943	chr21:46571988-46819424	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv544482	chr21:46571988-46819424	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1064859	chr21:46571988-46830602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv544483	chr21:46571988-46830602	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv1061691	chr21:46572641-46831862	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv544484	chr21:46572641-46831862	Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	nsv587839	chr21:46580370-46837709	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
11	nsv587840	chr21:46580370-46839904	Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers 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 miRNA target site	53 gene(s)	inside rSNPs	diseases
12	nsv916959	chr21:46585681-46831845	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
13	nsv1063721	chr21:46610599-46907894	Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
14	nsv1059779	chr21:46611859-46891352	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
15	nsv544485	chr21:46611859-46891352	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
16	nsv1059805	chr21:46618210-46736943	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	nsv913999	chr21:46636844-46765251	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
18	nsv914000	chr21:46647078-46765251	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
19	nsv914001	chr21:46647078-46944113	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
20	nsv914002	chr21:46655638-46945024	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
21	nsv1057807	chr21:46656346-47077374	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
22	nsv914004	chr21:46670874-46736694	Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
23	nsv914005	chr21:46670874-46756700	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
24	nsv914006	chr21:46670874-46788299	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
25	esv2762114	chr21:46680202-47067744	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
26	nsv914007	chr21:46684517-46780249	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
27	nsv914008	chr21:46684517-46792424	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
28	nsv914009	chr21:46684517-46908355	Enhancers Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
29	nsv1057661	chr21:46687476-46961041	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
30	nsv914010	chr21:46695039-46775018	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
31	nsv914011	chr21:46695039-46788299	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
32	nsv914012	chr21:46695039-47015661	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
33	nsv531547	chr21:46698078-46850908	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
34	nsv914013	chr21:46702506-46765251	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
35	nsv914014	chr21:46702506-46780249	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
36	nsv914015	chr21:46702506-46790203	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6518223	POFUT2	cis	brain	BrainEAC
rs6518223	ADARB1	cis	brain	BrainEAC
rs6518223	PCNT	cis	parietal	SCAN

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46708400-46714800	Weak transcription	Fetal Kidney	kidney
2	chr21:46708800-46715000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr21:46709000-46714600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr21:46709000-46715200	Weak transcription	Small Intestine	intestine
5	chr21:46710200-46716000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr21:46710600-46716800	Enhancers	Fetal Heart	heart
7	chr21:46710800-46715800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr21:46710800-46715800	Enhancers	Pancreas	Pancrea
9	chr21:46710800-46715800	Enhancers	Spleen	Spleen
10	chr21:46711400-46719200	Weak transcription	NHEK	skin
11	chr21:46711600-46716800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr21:46711800-46715600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr21:46712000-46714600	Enhancers	Fetal Lung	lung
14	chr21:46712000-46714800	Enhancers	Rectal Smooth Muscle	rectum
15	chr21:46712000-46715000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr21:46712000-46715200	Enhancers	Primary hematopoietic stem cells	blood
17	chr21:46712000-46715400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr21:46712000-46715600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr21:46712000-46716000	Enhancers	HUVEC	blood vessel
20	chr21:46712000-46716200	Enhancers	Ovary	ovary
21	chr21:46712000-46716400	Enhancers	Fetal Muscle Leg	muscle
22	chr21:46712000-46716800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr21:46712200-46714600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr21:46712200-46715200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr21:46712200-46715200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr21:46712200-46715200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr21:46712200-46715400	Enhancers	Fetal Thymus	thymus
28	chr21:46712200-46715600	Enhancers	Brain Cingulate Gyrus	brain
29	chr21:46712200-46715600	Enhancers	Right Ventricle	heart
30	chr21:46712200-46715800	Enhancers	Left Ventricle	heart
31	chr21:46712200-46716000	Enhancers	Fetal Stomach	stomach
32	chr21:46712200-46716200	Enhancers	Right Atrium	heart
33	chr21:46712200-46716400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr21:46712200-46717000	Enhancers	NHDF-Ad	bronchial
35	chr21:46712400-46714800	Enhancers	Brain Germinal Matrix	brain
36	chr21:46712600-46715600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr21:46712800-46715000	Weak transcription	Fetal Brain Female	brain
38	chr21:46712800-46715400	Enhancers	Brain Hippocampus Middle	brain
39	chr21:46712800-46715800	Bivalent Enhancer	Placenta	Placenta
40	chr21:46713000-46714800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr21:46713000-46715200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr21:46713200-46715200	Bivalent Enhancer	Stomach Mucosa	stomach
43	chr21:46713400-46714600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr21:46713400-46714600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr21:46713400-46714600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr21:46713400-46714800	Weak transcription	Brain Substantia Nigra	brain
47	chr21:46713400-46715200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr21:46713400-46715400	Enhancers	HepG2	liver
49	chr21:46713400-46716400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr21:46713400-46717000	Weak transcription	A549	lung

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