Variant report

Variant	rs4819295
Chromosome Location	chr21:45132764-45132765
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45085920..45088210-chr21:45131139..45133231,2	MCF-7	breast:
2	chr21:45131275..45134749-chr21:45135159..45139580,7	K562	blood:
3	chr21:45132246..45134583-chr21:45199684..45202380,3	MCF-7	breast:
4	chr21:44935152..44938727-chr21:45130277..45133903,3	MCF-7	breast:
5	chr21:45131271..45133186-chr21:45431822..45433921,2	MCF-7	breast:
6	chr21:45130981..45133882-chr21:45206562..45209340,2	K562	blood:
7	chr21:44761836..44764414-chr21:45132120..45134604,3	MCF-7	breast:
8	chr21:45078177..45082024-chr21:45131002..45134092,5	MCF-7	breast:
9	chr21:45130889..45133239-chr21:45139686..45141208,2	K562	blood:
10	chr21:45077151..45082106-chr21:45128357..45133852,8	MCF-7	breast:
11	chr21:45122068..45123972-chr21:45132668..45134422,2	K562	blood:
12	chr21:38741635..38744508-chr21:45132174..45134612,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160207	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000160208	Chromatin interaction
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1003280	0.81[JPT][hapmap]
rs10211901	0.85[ASN][1000 genomes]
rs1073522	0.81[JPT][hapmap]
rs11089093	0.90[ASN][1000 genomes]
rs1122873	0.81[JPT][hapmap]
rs11700909	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11909064	0.93[JPT][hapmap]
rs12627667	0.81[JPT][hapmap]
rs13051953	0.89[ASN][1000 genomes]
rs1378080	0.81[JPT][hapmap]
rs141521	0.81[JPT][hapmap]
rs1454648	0.81[JPT][hapmap]
rs1454650	0.81[JPT][hapmap]
rs1454651	0.81[JPT][hapmap]
rs1584917	0.81[JPT][hapmap]
rs1584918	0.81[JPT][hapmap]
rs1598206	0.81[JPT][hapmap]
rs2006113	0.90[ASN][1000 genomes]
rs2070533	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2155722	0.93[JPT][hapmap]
rs2156426	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2186924	0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs2236666	0.93[JPT][hapmap]
rs2246602	0.81[JPT][hapmap]
rs2250773	0.93[JPT][hapmap]
rs2251253	0.93[JPT][hapmap]
rs229357	0.81[JPT][hapmap]
rs2298561	0.93[JPT][hapmap]
rs2329442	0.81[JPT][hapmap]
rs2329593	0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2838316	0.80[JPT][hapmap]
rs2838317	0.81[JPT][hapmap]
rs2838319	0.81[JPT][hapmap]
rs2838320	1.00[JPT][hapmap]
rs2838321	0.81[JPT][hapmap]
rs2838323	0.81[JPT][hapmap]
rs2838324	0.81[JPT][hapmap]
rs2838328	0.81[JPT][hapmap]
rs2838330	0.81[JPT][hapmap]
rs2838331	0.81[JPT][hapmap]
rs2838337	0.81[JPT][hapmap]
rs2838341	0.81[JPT][hapmap]
rs2838344	0.93[JPT][hapmap]
rs2838348	0.93[JPT][hapmap]
rs2838350	0.93[JPT][hapmap]
rs2838351	0.93[JPT][hapmap]
rs2838353	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2838354	0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3788062	0.81[JPT][hapmap]
rs3819161	0.93[JPT][hapmap]
rs4818850	0.81[JPT][hapmap]
rs4818858	0.93[JPT][hapmap]
rs4818859	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4818860	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4818861	0.89[ASN][1000 genomes]
rs4819270	0.81[JPT][hapmap]
rs4819285	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4819286	0.88[ASN][1000 genomes]
rs4819287	0.87[ASN][1000 genomes]
rs4819288	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4819289	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4819290	0.89[ASN][1000 genomes]
rs4819291	0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4819292	0.88[ASN][1000 genomes]
rs4819293	0.89[ASN][1000 genomes]
rs4819294	0.89[ASN][1000 genomes]
rs4819296	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4819299	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6417730	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6518301	0.81[JPT][hapmap]
rs6518302	0.81[JPT][hapmap]
rs6518309	0.86[JPT][hapmap]
rs6518310	0.93[JPT][hapmap]
rs6518315	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7276215	0.81[JPT][hapmap]
rs7277539	0.80[JPT][hapmap]
rs7279958	0.81[JPT][hapmap]
rs7279959	0.93[JPT][hapmap]
rs7282122	0.93[JPT][hapmap]
rs7282405	0.89[ASN][1000 genomes]
rs7283428	0.90[ASN][1000 genomes]
rs762400	0.93[JPT][hapmap]
rs8129601	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs8131111	0.88[ASN][1000 genomes]
rs8133276	0.89[ASN][1000 genomes]
rs8133523	0.81[JPT][hapmap]
rs914197	0.88[ASN][1000 genomes]
rs914198	0.88[ASN][1000 genomes]
rs9306160	0.87[JPT][hapmap]
rs9976441	0.81[JPT][hapmap]
rs9978811	0.81[JPT][hapmap]
rs9980185	0.81[JPT][hapmap]
rs9981291	0.81[JPT][hapmap]
rs9981790	0.81[JPT][hapmap]
rs9983763	0.81[JPT][hapmap]
rs9984002	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active 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	36 gene(s)	inside rSNPs	diseases
3	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv1066613	chr21:45108233-45148136	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	esv3424986	chr21:45118675-45158421	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	esv3329872	chr21:45118725-45158757	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv913875	chr21:45119629-45191005	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
10	nsv587701	chr21:45128190-45181446	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv459290	chr21:45128454-45191139	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv587702	chr21:45128454-45191139	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45123200-45138200	Weak transcription	Ovary	ovary
2	chr21:45123600-45138400	Weak transcription	Right Atrium	heart
3	chr21:45130600-45133000	Flanking Active TSS	Hela-S3	cervix
4	chr21:45130800-45132800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:45131000-45132800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr21:45131200-45132800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr21:45131200-45132800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr21:45131200-45132800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr21:45131200-45132800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr21:45131400-45132800	Active TSS	A549	lung
11	chr21:45131400-45133200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr21:45131400-45138200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr21:45131600-45132800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr21:45131600-45132800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr21:45131600-45132800	Enhancers	Esophagus	oesophagus
16	chr21:45131600-45133000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr21:45131600-45133000	Enhancers	Adipose Nuclei	Adipose
18	chr21:45131600-45133000	Active TSS	Rectal Smooth Muscle	rectum
19	chr21:45131600-45133200	Enhancers	HMEC	breast
20	chr21:45131800-45132800	Enhancers	Pancreas	Pancrea
21	chr21:45131800-45136400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr21:45132000-45132800	Enhancers	Fetal Muscle Trunk	muscle
23	chr21:45132000-45133000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr21:45132000-45133000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr21:45132000-45133000	Enhancers	K562	blood
26	chr21:45132000-45133400	Enhancers	Placenta	Placenta
27	chr21:45132200-45132800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr21:45132200-45132800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr21:45132200-45132800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr21:45132200-45132800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr21:45132200-45132800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr21:45132200-45132800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr21:45132200-45132800	Enhancers	Liver	Liver
34	chr21:45132200-45132800	Enhancers	Fetal Heart	heart
35	chr21:45132200-45132800	Enhancers	Fetal Thymus	thymus
36	chr21:45132200-45132800	Flanking Active TSS	HSMMtube	muscle
37	chr21:45132200-45132800	Enhancers	NH-A	brain
38	chr21:45132200-45132800	Flanking Active TSS	Osteobl	bone
39	chr21:45132200-45133000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr21:45132200-45133000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr21:45132200-45133000	Enhancers	Fetal Muscle Leg	muscle
42	chr21:45132200-45133000	Flanking Active TSS	HepG2	liver
43	chr21:45132200-45133000	Flanking Active TSS	NHEK	skin
44	chr21:45132200-45133200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr21:45132400-45132800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr21:45132400-45132800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr21:45132400-45132800	Enhancers	Colon Smooth Muscle	Colon
48	chr21:45132400-45132800	Active TSS	Fetal Kidney	kidney
49	chr21:45132400-45132800	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr21:45132400-45133800	Enhancers	Fetal Intestine Large	intestine

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