Variant report

Variant	rs11227523
Chromosome Location	chr11:66305938-66305939
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66305473-66305960	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66244873..66247008-chr11:66305651..66307290,2	K562	blood:
2	chr11:66293228..66294862-chr11:66305840..66307672,2	K562	blood:
3	chr11:66304927..66310447-chr11:66310654..66314937,8	MCF-7	breast:
4	chr11:66288210..66290506-chr11:66305537..66307903,2	K562	blood:
5	chr11:66296511..66298892-chr11:66305917..66307641,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269990	TF binding region
ENSG00000248746	Chromatin interaction
ENSG00000174165	Chromatin interaction
ENSG00000174483	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10501397	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896124	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896125	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896129	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227495	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227497	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11227498	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227499	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227500	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227501	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227502	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227503	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227506	0.87[ASN][1000 genomes]
rs11227509	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227510	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227511	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227512	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227514	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227515	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227522	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11227525	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227527	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11227534	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11550299	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11821155	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11822028	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822099	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11824771	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12099041	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12221821	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12223479	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12272545	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17065	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17147644	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17495838	0.81[EUR][1000 genomes]
rs17496250	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17496586	0.97[EUR][1000 genomes]
rs17580784	0.85[EUR][1000 genomes]
rs2075792	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2276406	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2277302	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2279864	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2279865	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2298806	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305532	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305533	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305534	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2305535	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28414721	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3179961	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35733139	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3737525	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3741360	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816492	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3819247	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825065	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3892818	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4542420	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4576	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4630309	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4930182	0.85[EUR][1000 genomes]
rs4930183	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4930377	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4930378	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4930379	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4930380	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56144989	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57045447	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57207756	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57288351	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57596493	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57634456	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57691879	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57724777	0.92[EUR][1000 genomes]
rs59829960	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59982644	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60358007	0.89[EUR][1000 genomes]
rs60645853	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61561111	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61582507	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7104378	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7116921	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7116940	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7123176	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7928882	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7939759	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7943327	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7950407	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7950790	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	nsv897787	chr11:66300348-66347850	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11227523	DPP3	cis	Nerve Tibial	GTEx
rs11227523	CCS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 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	chr11:66278800-66309800	Weak transcription	HSMMtube	muscle
3	chr11:66278800-66312800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:66279000-66306200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:66279000-66309200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:66279000-66313000	Weak transcription	Small Intestine	intestine
7	chr11:66279200-66309800	Weak transcription	HUVEC	blood vessel
8	chr11:66279200-66310400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:66279200-66310800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:66279200-66310800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:66279400-66311000	Weak transcription	Fetal Brain Male	brain
12	chr11:66279400-66311200	Weak transcription	Right Atrium	heart
13	chr11:66281000-66311000	Strong transcription	Fetal Stomach	stomach
14	chr11:66282000-66309600	Weak transcription	NHDF-Ad	bronchial
15	chr11:66283400-66312800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr11:66289000-66308200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr11:66289000-66309800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:66289000-66312800	Weak transcription	Stomach Mucosa	stomach
19	chr11:66290200-66310800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:66291000-66309800	Weak transcription	HSMM	muscle
21	chr11:66291200-66306200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:66291200-66309800	Weak transcription	NH-A	brain
23	chr11:66291200-66311600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:66291400-66309400	Weak transcription	A549	lung
25	chr11:66291400-66309600	Weak transcription	GM12878-XiMat	blood
26	chr11:66291400-66311000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:66291600-66306200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr11:66291600-66309200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:66291600-66309800	Weak transcription	HMEC	breast
30	chr11:66291600-66312600	Weak transcription	NHEK	skin
31	chr11:66292000-66306200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:66292000-66306200	Weak transcription	Dnd41	blood
33	chr11:66292000-66306600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:66293600-66311000	Strong transcription	Fetal Intestine Small	intestine
35	chr11:66294600-66306200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr11:66294600-66306600	Weak transcription	NHLF	lung
37	chr11:66294600-66308800	Weak transcription	Brain Substantia Nigra	brain
38	chr11:66294800-66312400	Weak transcription	Hela-S3	cervix
39	chr11:66295800-66306000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr11:66296200-66311200	Weak transcription	Fetal Kidney	kidney
41	chr11:66298400-66306200	Weak transcription	Brain Angular Gyrus	brain
42	chr11:66299200-66311200	Weak transcription	Fetal Lung	lung
43	chr11:66299600-66306200	Weak transcription	Gastric	stomach
44	chr11:66299600-66306600	Weak transcription	Right Ventricle	heart
45	chr11:66299800-66306200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:66299800-66306600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:66300000-66306200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:66300200-66307000	Weak transcription	Esophagus	oesophagus
49	chr11:66300400-66306000	Weak transcription	Brain Hippocampus Middle	brain
50	chr11:66300400-66306200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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