Variant report

Variant	rs57022654
Chromosome Location	chr15:41122891-41122892
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr15:41122803-41122995	K562	blood:	n/a	chr15:41122905-41122927 chr15:41122917-41122927
2	YY1	chr15:41122732-41123206	H1-hESC	embryonic stem cell:	n/a	chr15:41122905-41122927 chr15:41122917-41122927

No.	Distal block	Cell Line	Cell type
1	chr15:41121981..41124134-chr15:41133402..41135573,2	MCF-7	breast:
2	chr15:41100215..41102460-chr15:41122818..41125777,2	K562	blood:
3	chr15:41115426..41119374-chr15:41121588..41125494,4	MCF-7	breast:
4	chr15:41120065..41123435-chr15:41135561..41137302,3	MCF-7	breast:

Variant related genes	Relation type
PPP1R14D	TF binding region
ENSG00000166140	Chromatin interaction
ENSG00000261183	Chromatin interaction
ENSG00000166145	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs28436138	1.00[AMR][1000 genomes]
rs55851751	1.00[AMR][1000 genomes]
rs58893179	1.00[AMR][1000 genomes]
rs59096643	1.00[AMR][1000 genomes]
rs59204074	1.00[AMR][1000 genomes]
rs60163307	1.00[AMR][1000 genomes]
rs61336574	1.00[AMR][1000 genomes]
rs7162253	1.00[AMR][1000 genomes]
rs7167831	1.00[AMR][1000 genomes]
rs7168217	1.00[AMR][1000 genomes]
rs7178058	1.00[AMR][1000 genomes]
rs74011889	1.00[AMR][1000 genomes]
rs74011890	1.00[AMR][1000 genomes]
rs74011893	1.00[AMR][1000 genomes]
rs74011933	1.00[AMR][1000 genomes]
rs74011936	1.00[AMR][1000 genomes]
rs74014709	1.00[AMR][1000 genomes]
rs74014710	1.00[AMR][1000 genomes]
rs8030883	1.00[AMR][1000 genomes]
rs8037717	1.00[AMR][1000 genomes]
rs8039169	1.00[AMR][1000 genomes]
rs9672224	1.00[AMR][1000 genomes]
rs9744142	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1054764	chr15:41068625-41196410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv569228	chr15:41106485-41194151	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41107200-41135200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr15:41107600-41135200	Weak transcription	Esophagus	oesophagus
3	chr15:41108200-41135600	Weak transcription	Spleen	Spleen
4	chr15:41112000-41135800	Weak transcription	Right Atrium	heart
5	chr15:41118600-41124200	Weak transcription	Pancreas	Pancrea
6	chr15:41119200-41126800	Weak transcription	Hela-S3	cervix
7	chr15:41120400-41124800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr15:41120800-41135600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:41121000-41123600	Enhancers	Placenta	Placenta
10	chr15:41121200-41123000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr15:41121600-41129800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr15:41121600-41135200	Weak transcription	Colonic Mucosa	Colon
13	chr15:41121600-41135200	Weak transcription	Gastric	stomach
14	chr15:41121600-41135200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr15:41121800-41135200	Weak transcription	Stomach Mucosa	stomach
16	chr15:41122200-41126600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:41122400-41123400	Enhancers	K562	blood
18	chr15:41122600-41123600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr15:41122800-41123000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr15:41122800-41123000	Genic enhancers	Fetal Intestine Small	intestine
21	chr15:41122800-41123200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr15:41122800-41123600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr15:41122800-41123600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr15:41122800-41123600	Enhancers	HepG2	liver
25	chr15:41122800-41135000	Weak transcription	Fetal Intestine Large	intestine

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