Variant report

Variant	rs11824771
Chromosome Location	chr11:66262550-66262551
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66235227..66237987-chr11:66260877..66263080,2	K562	blood:
2	chr11:66261021..66264013-chr11:66276582..66278912,2	K562	blood:
3	chr11:66243721..66249369-chr11:66258892..66263387,7	MCF-7	breast:
4	chr11:66245983..66252638-chr11:66253022..66262739,17	MCF-7	breast:
5	chr11:66245344..66248651-chr11:66260482..66263711,3	K562	blood:
6	chr11:66260907..66262961-chr11:66271431..66273552,2	MCF-7	breast:
7	chr11:66260407..66263189-chr11:66383219..66384725,2	K562	blood:

Variant related genes	Relation type
ENSG00000248643	Chromatin interaction
ENSG00000174483	Chromatin interaction
ENSG00000255517	Chromatin interaction
ENSG00000254986	Chromatin interaction
ENSG00000239306	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10501397	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896124	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896125	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896129	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11227495	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227497	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11227498	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227499	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227500	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227501	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227502	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227503	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227506	0.83[ASN][1000 genomes]
rs11227509	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11227510	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11227511	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11227512	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11227514	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11227515	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11227522	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11227523	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11227525	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11227527	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11227534	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11550299	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11821155	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11822028	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11822099	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12099041	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12221821	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12223479	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12272545	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17065	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17147644	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17495838	0.81[EUR][1000 genomes]
rs17496250	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17496586	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17580784	0.86[EUR][1000 genomes]
rs2075792	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2276406	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2277302	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2279864	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2279865	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2298806	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2305532	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2305533	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2305534	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2305535	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28414721	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3179961	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35733139	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3737525	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3741360	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3816492	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3819247	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3825065	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3892818	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4542420	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4576	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4630309	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4930182	0.86[EUR][1000 genomes]
rs4930183	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4930377	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4930378	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4930379	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4930380	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56144989	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57045447	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57207756	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57288351	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57596493	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57634456	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57691879	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57724777	0.93[EUR][1000 genomes]
rs59829960	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59982644	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60358007	0.90[EUR][1000 genomes]
rs60645853	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61561111	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61582507	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7104378	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7116921	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7116940	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7123176	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7928882	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7939759	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7943327	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7950407	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7950790	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	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
5	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
6	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
7	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
rs11824771	CCS	Cis_1M	lymphoblastoid	RTeQTL
rs11824771	DPP3	cis	Thyroid	GTEx
rs11824771	CTD-3074O7.5	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66248600-66263200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:66248600-66263200	Weak transcription	Small Intestine	intestine
3	chr11:66248600-66277600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:66248600-66277600	Weak transcription	Fetal Brain Male	brain
5	chr11:66248600-66277600	Weak transcription	Fetal Lung	lung
6	chr11:66248600-66278000	Weak transcription	NHDF-Ad	bronchial
7	chr11:66248800-66277600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:66248800-66277600	Weak transcription	K562	blood
9	chr11:66249600-66265200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:66249600-66265400	Strong transcription	Lung	lung
11	chr11:66249600-66266800	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:66249600-66268200	Strong transcription	Thymus	Thymus
13	chr11:66249600-66268400	Strong transcription	Adipose Nuclei	Adipose
14	chr11:66249800-66265200	Strong transcription	Gastric	stomach
15	chr11:66249800-66265200	Strong transcription	NHEK	skin
16	chr11:66249800-66267000	Strong transcription	Spleen	Spleen
17	chr11:66249800-66268800	Strong transcription	Fetal Thymus	thymus
18	chr11:66249800-66268800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr11:66249800-66273200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:66250000-66268400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr11:66250200-66266600	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:66250200-66266600	Strong transcription	Dnd41	blood
23	chr11:66250200-66268400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:66250200-66268400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:66250400-66268200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:66250600-66268800	Strong transcription	Liver	Liver
27	chr11:66250800-66268200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr11:66251200-66277600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:66251400-66269000	Strong transcription	Fetal Brain Female	brain
30	chr11:66251600-66265400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:66251800-66265200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:66251800-66265400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:66251800-66268400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:66251800-66274600	Strong transcription	Fetal Stomach	stomach
35	chr11:66252200-66268800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:66252600-66268400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr11:66252800-66265600	Strong transcription	Esophagus	oesophagus
38	chr11:66252800-66268000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:66252800-66268400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:66253000-66267200	Strong transcription	Brain Hippocampus Middle	brain
41	chr11:66254400-66272600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:66254800-66269000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:66255400-66268800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:66255800-66264400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr11:66255800-66277800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr11:66256400-66265000	Strong transcription	NHLF	lung
47	chr11:66257600-66262800	Weak transcription	Aorta	Aorta
48	chr11:66257600-66263200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr11:66257600-66265800	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr11:66258800-66264000	Weak transcription	Hela-S3	cervix

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