Variant report

Variant	rs11227503
Chromosome Location	chr11:66275242-66275243
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66274200..66276466-chr11:66412014..66414186,2	K562	blood:
2	chr11:66246466..66249447-chr11:66272733..66277215,5	MCF-7	breast:
3	chr11:66244850..66249884-chr11:66274125..66278778,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254986	Chromatin interaction
ENSG00000255517	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10501397	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896124	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896125	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896129	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11227495	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227497	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227498	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227499	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227501	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227502	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227506	0.86[ASN][1000 genomes]
rs11227509	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227510	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227511	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227512	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227514	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227515	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227522	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11227523	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227525	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227527	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227534	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11550299	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11821155	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11822028	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11822099	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11824771	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12099041	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12221821	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12223479	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12272545	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17065	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17147644	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17495838	0.82[EUR][1000 genomes]
rs17496250	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17496586	0.95[EUR][1000 genomes]
rs17580784	0.87[EUR][1000 genomes]
rs2075792	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2276406	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2277302	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2279864	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2279865	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2298806	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2305532	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2305533	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2305534	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2305535	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28414721	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3179961	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35733139	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3737525	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3741360	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3816492	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3819247	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3825065	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3892818	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4542420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4576	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4630309	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4930182	0.87[EUR][1000 genomes]
rs4930183	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4930377	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4930378	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4930379	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4930380	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56144989	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57045447	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57207756	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57288351	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57596493	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57634456	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57691879	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57724777	0.93[EUR][1000 genomes]
rs59829960	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59982644	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60358007	0.91[EUR][1000 genomes]
rs60645853	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61561111	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61582507	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7104378	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7116921	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7116940	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7123176	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928882	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7939759	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7943327	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7950407	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7950790	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[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	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
4	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
5	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
6	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11227503	CTD-3074O7.5	cis	Esophagus Mucosa	GTEx
rs11227503	CTD-3074O7.5	cis	Whole Blood	GTEx
rs11227503	DPP3	cis	Thyroid	GTEx
rs11227503	CCS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66248600-66277600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:66248600-66277600	Weak transcription	Fetal Brain Male	brain
3	chr11:66248600-66277600	Weak transcription	Fetal Lung	lung
4	chr11:66248600-66278000	Weak transcription	NHDF-Ad	bronchial
5	chr11:66248800-66277600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:66248800-66277600	Weak transcription	K562	blood
7	chr11:66251200-66277600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:66255800-66277800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr11:66259600-66277600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:66261000-66277800	Weak transcription	Psoas Muscle	Psoas
11	chr11:66261200-66277800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:66261200-66278000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:66261600-66277600	Weak transcription	Stomach Mucosa	stomach
14	chr11:66261800-66277800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:66262400-66277600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:66263600-66277800	Weak transcription	NH-A	brain
17	chr11:66264600-66278000	Weak transcription	HMEC	breast
18	chr11:66264800-66277600	Weak transcription	Hela-S3	cervix
19	chr11:66264800-66277800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:66264800-66277800	Weak transcription	Osteobl	bone
21	chr11:66265000-66277800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr11:66265200-66277600	Weak transcription	Small Intestine	intestine
23	chr11:66265200-66277800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:66266600-66278000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:66268800-66276800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:66270400-66277200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:66270600-66275800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:66270800-66277000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:66270800-66277200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr11:66271400-66276000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:66271400-66277000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:66271600-66277600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:66272000-66276000	Strong transcription	Brain Germinal Matrix	brain
34	chr11:66272800-66277600	Weak transcription	Primary T cells from cord blood	blood
35	chr11:66272800-66277600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:66272800-66277600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:66272800-66277800	Weak transcription	Aorta	Aorta
38	chr11:66272800-66278000	Weak transcription	Lung	lung
39	chr11:66272800-66278000	Weak transcription	NHLF	lung
40	chr11:66273000-66275400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr11:66273000-66275600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:66273000-66276400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:66273000-66276600	Weak transcription	Dnd41	blood
44	chr11:66273000-66277600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:66273000-66277600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr11:66273000-66277600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr11:66273000-66277600	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:66273000-66277600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:66273000-66277600	Weak transcription	Brain Substantia Nigra	brain
50	chr11:66273000-66277600	Weak transcription	Ovary	ovary

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