Variant report

Variant	rs2838322
Chromosome Location	chr21:44998615-44998616
allele	C/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	chr21:44921707..44923591-chr21:44997193..44999176,2	MCF-7	breast:
2	chr21:44992733..44995212-chr21:44995916..44999586,3	MCF-7	breast:
3	chr21:44846010..44848795-chr21:44996271..44998829,2	MCF-7	breast:
4	chr21:44940159..44942286-chr21:44998297..45000039,2	MCF-7	breast:
5	chr21:44995436..44998178-chr21:44998491..45000722,2	K562	blood:
6	chr21:44935745..44939889-chr21:44996444..44998643,4	MCF-7	breast:
7	chr21:44990162..44991801-chr21:44997216..44999805,2	MCF-7	breast:
8	chr21:44997574..45001313-chr21:45028086..45031280,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000142178	Chromatin interaction

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs1003280	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1073522	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1122873	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11701673	0.82[EUR][1000 genomes]
rs12626757	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12627667	0.80[ASN][1000 genomes]
rs1378079	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1378080	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs141521	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1454648	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1454650	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1454651	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1584917	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1584918	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1598206	0.83[ASN][1000 genomes]
rs162343	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs162344	0.96[ASN][1000 genomes]
rs162345	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs162366	0.93[ASN][1000 genomes]
rs162367	0.89[ASN][1000 genomes]
rs162368	0.93[ASN][1000 genomes]
rs162369	0.94[ASN][1000 genomes]
rs162371	0.92[ASN][1000 genomes]
rs162372	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162373	0.90[ASN][1000 genomes]
rs162374	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs162375	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs162376	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs162377	0.92[ASN][1000 genomes]
rs162378	0.91[ASN][1000 genomes]
rs162380	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs162381	0.88[ASN][1000 genomes]
rs162388	0.90[ASN][1000 genomes]
rs162389	0.93[ASN][1000 genomes]
rs162390	0.87[ASN][1000 genomes]
rs162391	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs162392	0.81[EUR][1000 genomes]
rs162393	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs162394	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs162395	0.93[ASN][1000 genomes]
rs162396	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs162398	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs162399	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs162400	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs162402	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162403	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162404	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs167930	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs189094	0.94[ASN][1000 genomes]
rs2051407	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2246602	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2282526	0.81[EUR][1000 genomes]
rs229340	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs229357	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230640	0.89[ASN][1000 genomes]
rs230642	0.89[ASN][1000 genomes]
rs230643	0.89[ASN][1000 genomes]
rs230644	0.82[ASN][1000 genomes]
rs230646	0.89[ASN][1000 genomes]
rs230647	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2329442	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2329443	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838316	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838317	1.00[ASN][1000 genomes]
rs2838319	1.00[ASN][1000 genomes]
rs2838320	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2838321	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838323	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838324	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838325	0.81[EUR][1000 genomes]
rs2838326	0.81[EUR][1000 genomes]
rs2838328	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838329	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838330	0.99[ASN][1000 genomes]
rs2838331	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838336	0.80[ASN][1000 genomes]
rs2838337	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838338	0.82[EUR][1000 genomes]
rs2838339	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2838341	0.80[ASN][1000 genomes]
rs28840140	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35110281	0.80[ASN][1000 genomes]
rs3788062	1.00[ASN][1000 genomes]
rs463738	0.89[ASN][1000 genomes]
rs4818833	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4818843	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4818850	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4818856	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4819219	0.92[AFR][1000 genomes]
rs4819264	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819270	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4997353	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58451308	0.80[ASN][1000 genomes]
rs6417729	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6518301	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6518302	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6518309	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7275705	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7276215	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7276316	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7277539	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7278003	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7279958	0.99[ASN][1000 genomes]
rs7282933	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8133523	0.84[EUR][1000 genomes]
rs86138	0.94[ASN][1000 genomes]
rs86139	0.94[ASN][1000 genomes]
rs91424	0.88[ASN][1000 genomes]
rs9306159	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs969060	0.81[EUR][1000 genomes]
rs9974710	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9976441	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9976443	0.80[ASN][1000 genomes]
rs9977258	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9978811	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9980185	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9981291	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9981790	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9983752	0.81[AFR][1000 genomes]
rs9983763	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9984002	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1061539	chr21:44915533-45041824	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1067171	chr21:44921187-45039471	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv521700	chr21:44925334-45041790	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv470903	chr21:44925334-45061501	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv459289	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	nsv587690	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription 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	18 gene(s)	inside rSNPs	diseases
8	nsv1065359	chr21:44967209-45029878	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv3537	chr21:44967340-45013104	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv834106	chr21:44992387-45109489	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44987200-45005000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:44987200-45005000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr21:44992400-45004200	Weak transcription	Right Atrium	heart
4	chr21:44995000-45002000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:44995000-45005400	Weak transcription	Ovary	ovary
6	chr21:44995000-45024200	Weak transcription	Fetal Brain Male	brain
7	chr21:44995200-45001600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:44995200-45001600	Weak transcription	Lung	lung
9	chr21:44995200-45006000	Weak transcription	Spleen	Spleen
10	chr21:44995400-45001600	Weak transcription	Placenta	Placenta
11	chr21:44996200-45005800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr21:44997800-45000000	Enhancers	HSMMtube	muscle
13	chr21:44998000-44998800	Enhancers	Pancreas	Pancrea
14	chr21:44998200-45001800	Enhancers	Fetal Lung	lung
15	chr21:44998200-45002400	Enhancers	Fetal Stomach	stomach
16	chr21:44998400-44998800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr21:44998400-44998800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr21:44998400-44998800	Enhancers	Fetal Muscle Trunk	muscle
19	chr21:44998400-44999000	Enhancers	Fetal Muscle Leg	muscle
20	chr21:44998400-44999200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr21:44998400-44999200	Enhancers	Stomach Mucosa	stomach
22	chr21:44998400-44999400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr21:44998400-44999600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr21:44998600-44998800	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr21:44998600-44999600	Enhancers	HSMM	muscle
26	chr21:44998600-45000000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr21:44998600-45006000	Weak transcription	Gastric	stomach

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