Variant report

Variant	rs1418925
Chromosome Location	chr20:52825731-52825732
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	chr20:49345330..49348251-chr20:52823191..52827147,4	MCF-7	breast:
2	chr1:155099597..155102197-chr20:52823453..52826190,2	MCF-7	breast:
3	chr20:52417422..52419776-chr20:52823740..52825810,2	MCF-7	breast:
4	chr20:52713017..52713913-chr20:52825726..52826628,4	MCF-7	breast:
5	chr2:24427506..24429704-chr20:52824121..52825744,2	MCF-7	breast:
6	chr20:52823050..52825968-chr20:55840171..55842066,3	MCF-7	breast:
7	chr20:46414702..46417703-chr20:52824331..52826234,3	MCF-7	breast:
8	chr20:52825697..52826381-chr20:53265099..53266098,2	MCF-7	breast:
9	chr20:52824721..52826787-chr20:55839394..55842032,3	MCF-7	breast:
10	chr20:46413701..46416832-chr20:52824005..52826708,3	MCF-7	breast:
11	chr20:52824614..52827050-chrX:153713627..153715899,2	MCF-7	breast:
12	chr17:57915224..57917032-chr20:52824163..52827087,2	MCF-7	breast:
13	chr20:52209344..52211944-chr20:52823428..52825795,3	MCF-7	breast:
14	chr16:765349..767993-chr20:52824649..52827443,2	MCF-7	breast:
15	chr12:120727996..120730746-chr20:52824489..52827020,3	MCF-7	breast:
16	chr20:52825722..52826473-chr21:39727599..39728223,2	MCF-7	breast:
17	chr17:59489097..59491505-chr20:52824203..52825940,2	MCF-7	breast:
18	chr20:52824220..52825803-chr9:91149500..91151263,2	MCF-7	breast:
19	chr17:59485530..59487637-chr20:52824425..52826103,2	MCF-7	breast:
20	chr12:122238562..122240078-chr20:52823765..52826004,2	MCF-7	breast:
21	chr20:52719698..52720606-chr20:52825591..52826191,3	MCF-7	breast:
22	chr20:52825609..52826186-chr20:53263084..53263835,2	MCF-7	breast:
23	chr17:56735044..56737047-chr20:52822984..52826992,5	MCF-7	breast:
24	chr20:52824540..52826280-chr6:26204006..26206221,2	MCF-7	breast:
25	chr20:52825632..52827601-chr20:53272621..53275494,2	MCF-7	breast:
26	chr20:52712416..52713964-chr20:52825611..52826679,6	MCF-7	breast:
27	chr20:52825165..52826866-chr6:115066329..115069326,2	MCF-7	breast:
28	chr17:58752920..58755421-chr20:52823131..52825781,2	MCF-7	breast:
29	chr20:52824488..52827444-chr3:64007659..64009363,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226308	Chromatin interaction
ENSG00000130045	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000141376	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000225563	Chromatin interaction
ENSG00000169242	Chromatin interaction
ENSG00000163636	Chromatin interaction
ENSG00000196562	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000198518	Chromatin interaction
ENSG00000198399	Chromatin interaction
ENSG00000103260	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000102178	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000124171	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2585417	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2585418	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292113	0.84[ASN][1000 genomes]
rs292118	0.95[CHB][hapmap];0.80[JPT][hapmap]
rs3479	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs368933	0.83[CEU][hapmap];0.88[CHB][hapmap];0.80[EUR][1000 genomes]
rs391235	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs422257	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs441506	0.81[EUR][1000 genomes]
rs51301	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6013925	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6091837	0.81[ASN][1000 genomes]
rs6127138	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS 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	338 gene(s)	inside rSNPs	diseases
2	nsv834010	chr20:52759824-52932939	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52824000-52825800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr20:52824000-52825800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:52824000-52825800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr20:52824000-52825800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr20:52824000-52826200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr20:52824200-52825800	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr20:52824200-52825800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr20:52824200-52825800	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr20:52824200-52825800	Active TSS	Ovary	ovary
10	chr20:52824200-52825800	Active TSS	Psoas Muscle	Psoas
11	chr20:52824200-52825800	Active TSS	Right Ventricle	heart
12	chr20:52824200-52826000	Active TSS	H9 Cell Line	embryonic stem cell
13	chr20:52824200-52826000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr20:52824200-52826000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr20:52824200-52826200	Active TSS	H1 Cell Line	embryonic stem cell
16	chr20:52824200-52826200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr20:52824200-52826400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr20:52824400-52825800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr20:52824400-52825800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr20:52824400-52825800	Active TSS	Fetal Muscle Trunk	muscle
21	chr20:52824400-52825800	Active TSS	Left Ventricle	heart
22	chr20:52824400-52825800	Active TSS	HSMM	muscle
23	chr20:52824400-52826400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr20:52824800-52826000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr20:52824800-52826200	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr20:52825000-52825800	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr20:52825000-52825800	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr20:52825000-52826000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr20:52825000-52826000	Flanking Active TSS	Liver	Liver
30	chr20:52825000-52826200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr20:52825000-52826200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr20:52825000-52826200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr20:52825200-52825800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr20:52825200-52825800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr20:52825200-52825800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr20:52825200-52825800	Flanking Active TSS	Placenta	Placenta
37	chr20:52825200-52825800	Active TSS	Right Atrium	heart
38	chr20:52825200-52825800	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr20:52825200-52825800	Flanking Active TSS	Thymus	Thymus
40	chr20:52825200-52826000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr20:52825200-52826000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr20:52825200-52826000	Flanking Active TSS	Colonic Mucosa	Colon
43	chr20:52825200-52826000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr20:52825200-52826000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr20:52825200-52826000	Flanking Active TSS	HUVEC	blood vessel
46	chr20:52825200-52826200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr20:52825200-52826400	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr20:52825400-52825800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr20:52825400-52825800	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr20:52825400-52825800	Flanking Active TSS	Fetal Stomach	stomach

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