Variant report

Variant	rs72613649
Chromosome Location	chr21:46237560-46237561
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:50092081..50093923-chr21:46237222..46239021,2	MCF-7	breast:
2	chr21:46231216..46239677-chr21:46289090..46295542,14	K562	blood:
3	chr21:46237469..46238317-chr4:100870908..100871458,2	Hela-S3	cervix:
4	chr21:46232702..46239829-chr21:46289967..46296620,21	MCF-7	breast:
5	chr21:46231904..46241990-chr21:46492035..46500735,28	K562	blood:
6	chr21:46235954..46239342-chr21:46346367..46350296,5	K562	blood:
7	chr21:46234565..46238085-chr21:46349825..46353215,3	MCF-7	breast:
8	chr21:46235459..46240790-chr21:46329963..46334235,7	MCF-7	breast:
9	chr21:46234037..46237833-chr21:46295592..46298389,4	K562	blood:
10	chr19:56185115..56186636-chr21:46236479..46238156,2	MCF-7	breast:
11	chr21:46236678..46239215-chr21:46284689..46286960,3	MCF-7	breast:
12	chr21:46235517..46239255-chr21:46289829..46295572,6	K562	blood:
13	chr21:46235651..46239241-chr21:46493223..46495632,4	MCF-7	breast:
14	chr21:46231789..46243695-chr21:46286819..46295664,23	MCF-7	breast:
15	chr21:46233435..46239577-chr21:46329843..46334353,8	MCF-7	breast:
16	chr21:46234752..46239628-chr21:46345760..46349592,8	MCF-7	breast:
17	chr21:46234824..46239565-chr21:46284858..46289652,5	K562	blood:
18	chr21:46237169..46238057-chr6:35464670..35465479,2	Hela-S3	cervix:
19	chr19:13228183..13231183-chr21:46235955..46238098,3	K562	blood:
20	chr21:46186765..46188429-chr21:46235591..46237706,2	K562	blood:
21	chr21:46236119..46237973-chr6:33239831..33242378,2	K562	blood:
22	chr21:46204105..46208556-chr21:46233916..46237563,3	K562	blood:
23	chr21:46236285..46239693-chr21:46357237..46360614,5	K562	blood:
24	chr21:46235785..46239443-chr21:46357143..46362674,8	MCF-7	breast:
25	chr19:56186135..56186635-chr21:46237432..46237966,2	Hela-S3	cervix:
26	chr21:46236918..46239386-chr21:46357793..46361272,3	K562	blood:
27	chr17:56708448..56710403-chr21:46237510..46239366,2	MCF-7	breast:
28	chr21:46231513..46241255-chr21:46492035..46497390,26	K562	blood:
29	chr21:46235394..46237991-chr21:46340879..46344165,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000273027	Chromatin interaction
ENSG00000164032	Chromatin interaction
ENSG00000160877	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000104907	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000267523	Chromatin interaction
ENSG00000142546	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000007866	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000227039	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000063245	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs13047692	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13047718	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13051119	0.87[EUR][1000 genomes]
rs13433413	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2294158	0.94[ASN][1000 genomes]
rs2838676	0.91[ASN][1000 genomes]
rs2838677	0.92[ASN][1000 genomes]
rs2838679	0.94[ASN][1000 genomes]
rs2838693	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838697	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838698	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838700	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34875321	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3788138	0.92[ASN][1000 genomes]
rs4818731	0.91[ASN][1000 genomes]
rs4818976	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4818977	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8131444	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9306115	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9306116	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9637189	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9977465	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9977676	0.92[ASN][1000 genomes]
rs9978131	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers 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	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv459298	chr21:46223847-46277968	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv587813	chr21:46223847-46277968	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv913963	chr21:46223847-46277968	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv913964	chr21:46223847-46298869	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv913962	chr21:46223847-46321172	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv913965	chr21:46223847-46321172	Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1058550	chr21:46227163-46317934	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv913966	chr21:46229393-46261390	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
13	esv3345023	chr21:46236474-46239372	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
14	esv3410893	chr21:46236549-46239397	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46235600-46237600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr21:46235800-46238200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr21:46236400-46237600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr21:46236400-46237800	Enhancers	Fetal Brain Male	brain
5	chr21:46236600-46238600	Active TSS	Rectal Smooth Muscle	rectum
6	chr21:46236600-46238800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr21:46236600-46239000	Active TSS	Hela-S3	cervix
8	chr21:46236800-46237600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr21:46236800-46237600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr21:46236800-46237600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr21:46236800-46237600	Flanking Active TSS	Dnd41	blood
12	chr21:46236800-46238800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr21:46236800-46238800	Active TSS	HSMM	muscle
14	chr21:46236800-46239000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr21:46236800-46239000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:46236800-46239000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr21:46236800-46239000	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr21:46237000-46237600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr21:46237000-46237600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr21:46237000-46237600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr21:46237000-46237600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr21:46237000-46237600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr21:46237000-46237600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr21:46237000-46237600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr21:46237000-46237600	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr21:46237000-46237600	Flanking Active TSS	Colonic Mucosa	Colon
27	chr21:46237000-46237600	Flanking Active TSS	Placenta	Placenta
28	chr21:46237000-46237600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr21:46237000-46237600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr21:46237000-46237600	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr21:46237000-46237600	Flanking Active TSS	HepG2	liver
32	chr21:46237000-46237600	Flanking Active TSS	HMEC	breast
33	chr21:46237000-46237600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr21:46237000-46238400	Active TSS	NH-A	brain
35	chr21:46237000-46238600	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr21:46237000-46238600	Active TSS	Left Ventricle	heart
37	chr21:46237000-46238800	Active TSS	H9 Cell Line	embryonic stem cell
38	chr21:46237000-46238800	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr21:46237000-46238800	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr21:46237000-46238800	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr21:46237000-46238800	Active TSS	A549	lung
42	chr21:46237000-46239000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr21:46237200-46237600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr21:46237200-46237600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr21:46237200-46237600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr21:46237200-46237600	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr21:46237200-46237600	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr21:46237200-46237600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr21:46237200-46237600	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr21:46237200-46237600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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