Variant report

Variant	rs57691879
Chromosome Location	chr11:66236604-66236605
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66190055..66192720-chr11:66235255..66236874,2	K562	blood:
2	chr11:66235227..66237987-chr11:66260877..66263080,2	K562	blood:
3	chr11:66234759..66237082-chr11:66443933..66445576,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174576	Chromatin interaction
ENSG00000173914	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10501397	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10896124	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10896125	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10896129	0.90[EUR][1000 genomes]
rs11227495	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11227497	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11227498	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11227499	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11227500	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11227501	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11227502	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11227503	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11227509	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227510	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227511	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227512	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227514	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227515	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227522	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11227523	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227525	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227527	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11227534	0.90[EUR][1000 genomes]
rs11550299	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11821155	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11822028	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11822099	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11824771	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12099041	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12221821	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12223479	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12272545	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17065	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17147644	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17495838	0.89[EUR][1000 genomes]
rs17496250	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17496586	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17580784	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2075792	0.90[EUR][1000 genomes]
rs2276406	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2277302	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279864	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2279865	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2298806	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2305532	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2305533	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2305534	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2305535	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28414721	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3179961	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35733139	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3737525	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3741360	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3816492	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3819247	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3825065	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3867131	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3892818	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4542420	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4576	0.90[EUR][1000 genomes]
rs4630309	0.90[EUR][1000 genomes]
rs4930182	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4930183	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4930377	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4930378	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4930379	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4930380	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56144989	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57045447	0.90[EUR][1000 genomes]
rs57207756	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57288351	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57596493	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57634456	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57724777	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59829960	0.90[EUR][1000 genomes]
rs59982644	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60358007	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60645853	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61561111	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61582507	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7104378	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7116921	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7116940	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7123176	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7928882	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7939759	0.90[EUR][1000 genomes]
rs7943327	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7950407	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7950790	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
3	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	nsv897786	chr11:66203025-66244015	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv468601	chr11:66234023-66296114	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS 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	37 gene(s)	inside rSNPs	diseases
8	nsv555224	chr11:66234023-66296114	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs57691879	DPP3	cis	Thyroid	GTEx
rs57691879	CTD-3074O7.5	cis	Esophagus Mucosa	GTEx
rs57691879	CCS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66235200-66237200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr11:66235200-66238200	Weak transcription	Aorta	Aorta
3	chr11:66235200-66238200	Enhancers	Spleen	Spleen
4	chr11:66235200-66239800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:66235200-66245000	Weak transcription	HSMM	muscle
6	chr11:66235200-66246200	Weak transcription	Fetal Kidney	kidney
7	chr11:66235400-66237000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:66235400-66237000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:66235400-66237000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:66235400-66238000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr11:66235400-66239800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:66235400-66239800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:66235400-66246400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:66235400-66246600	Weak transcription	Fetal Heart	heart
15	chr11:66235400-66246600	Weak transcription	Psoas Muscle	Psoas
16	chr11:66235400-66246600	Weak transcription	HSMMtube	muscle
17	chr11:66235600-66236800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:66235600-66237000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:66235600-66237000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:66235600-66237800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:66235600-66238000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:66235600-66238800	Weak transcription	Gastric	stomach
23	chr11:66235600-66238800	Weak transcription	K562	blood
24	chr11:66235600-66240000	Weak transcription	Osteobl	bone
25	chr11:66235600-66241400	Weak transcription	HMEC	breast
26	chr11:66235600-66244200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:66235600-66246400	Weak transcription	A549	lung
28	chr11:66235600-66246400	Weak transcription	Hela-S3	cervix
29	chr11:66235800-66237000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:66235800-66237000	Weak transcription	Ovary	ovary
31	chr11:66235800-66237200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:66235800-66237600	Weak transcription	Fetal Lung	lung
33	chr11:66235800-66237800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:66235800-66237800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:66235800-66238000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:66235800-66238400	Weak transcription	Colon Smooth Muscle	Colon
37	chr11:66235800-66238600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:66235800-66238600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:66235800-66238600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr11:66235800-66238600	Weak transcription	NHLF	lung
41	chr11:66235800-66238800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr11:66235800-66239000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:66235800-66239000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:66235800-66239000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr11:66235800-66239400	Weak transcription	NHDF-Ad	bronchial
46	chr11:66235800-66239600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:66235800-66239600	Weak transcription	Esophagus	oesophagus
48	chr11:66235800-66239600	Weak transcription	Fetal Intestine Large	intestine
49	chr11:66235800-66239600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:66235800-66239800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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