Variant report

Variant	rs11227509
Chromosome Location	chr11:66281194-66281195
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66280233..66283147-chr11:66288222..66290856,2	K562	blood:
2	chr11:66275530..66280458-chr11:66280685..66284919,6	K562	blood:

Variant related genes	Relation type
ENSG00000256349	Chromatin interaction
ENSG00000174483	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10501397	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896124	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896125	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896129	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227495	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227497	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11227498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227500	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227501	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227502	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227503	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227506	0.87[ASN][1000 genomes]
rs11227510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227511	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227512	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227514	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227515	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227522	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11227523	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227525	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227527	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11227534	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11550299	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11821155	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11822028	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822099	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11824771	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12099041	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12221821	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12223479	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12272545	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17065	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17147644	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17495838	0.82[EUR][1000 genomes]
rs17496250	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17496586	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17580784	0.87[EUR][1000 genomes]
rs2075792	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2276406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2277302	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2279864	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2279865	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2290462	0.81[AFR][1000 genomes]
rs2298806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305532	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305533	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305534	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2305535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28414721	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3179961	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35733139	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3737525	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3741360	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816492	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3819247	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825065	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3892818	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4542420	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4576	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4630309	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4930182	0.87[EUR][1000 genomes]
rs4930183	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4930377	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4930378	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4930379	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4930380	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56144989	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57045447	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57207756	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57288351	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57596493	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57634456	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57691879	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57724777	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59829960	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59982644	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60358007	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60645853	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61561111	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61582507	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7104378	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7116921	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7116940	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7123176	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7928882	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7939759	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7943327	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7950407	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7950790	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv934228	chr11:66277759-66288927	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11227509	CTD-3074O7.5	cis	Esophagus Mucosa	GTEx
rs11227509	CCS	Cis_1M	lymphoblastoid	RTeQTL
rs11227509	DPP3	cis	Nerve Tibial	GTEx
rs11227509	DPP3	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66278600-66311000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:66278800-66281200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:66278800-66281200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:66278800-66281200	Weak transcription	Esophagus	oesophagus
5	chr11:66278800-66281200	Weak transcription	Lung	lung
6	chr11:66278800-66281400	Weak transcription	Gastric	stomach
7	chr11:66278800-66281400	Weak transcription	Ovary	ovary
8	chr11:66278800-66281800	Weak transcription	Pancreas	Pancrea
9	chr11:66278800-66282000	Weak transcription	Left Ventricle	heart
10	chr11:66278800-66286400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr11:66278800-66286600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:66278800-66287000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:66278800-66288000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:66278800-66288200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr11:66278800-66288400	Weak transcription	Colonic Mucosa	Colon
16	chr11:66278800-66290400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:66278800-66290600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:66278800-66294000	Weak transcription	Aorta	Aorta
19	chr11:66278800-66309800	Weak transcription	HSMMtube	muscle
20	chr11:66278800-66312800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:66279000-66281200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:66279000-66281200	Weak transcription	Placenta	Placenta
23	chr11:66279000-66281400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr11:66279000-66281400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:66279000-66281400	Weak transcription	Thymus	Thymus
26	chr11:66279000-66281600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:66279000-66281600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:66279000-66281600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:66279000-66281600	Weak transcription	NHDF-Ad	bronchial
30	chr11:66279000-66281800	Weak transcription	Fetal Thymus	thymus
31	chr11:66279000-66281800	Weak transcription	Right Ventricle	heart
32	chr11:66279000-66282400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr11:66279000-66282600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr11:66279000-66282800	Weak transcription	Fetal Lung	lung
35	chr11:66279000-66286400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr11:66279000-66286400	Weak transcription	Brain Substantia Nigra	brain
37	chr11:66279000-66286600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:66279000-66286600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr11:66279000-66287000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:66279000-66288200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr11:66279000-66288200	Weak transcription	Stomach Mucosa	stomach
42	chr11:66279000-66288400	Weak transcription	GM12878-XiMat	blood
43	chr11:66279000-66290200	Weak transcription	HMEC	breast
44	chr11:66279000-66291200	Weak transcription	Psoas Muscle	Psoas
45	chr11:66279000-66303000	Weak transcription	Primary B cells from cord blood	blood
46	chr11:66279000-66306200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr11:66279000-66309200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr11:66279000-66313000	Weak transcription	Small Intestine	intestine
49	chr11:66279200-66281200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr11:66279200-66281200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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