Variant report

Variant	rs2305533
Chromosome Location	chr11:66298623-66298624
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66296511..66298892-chr11:66305917..66307641,2	MCF-7	breast:
2	chr11:66298292..66300537-chr11:66444275..66446156,2	K562	blood:
3	chr11:66297804..66299889-chr11:66608194..66611075,2	K562	blood:
4	chr11:66296605..66298813-chr11:66310746..66312650,2	MCF-7	breast:
5	chr11:66297799..66301066-chr11:66306778..66311237,4	K562	blood:
6	chr11:66280557..66283218-chr11:66296773..66299688,2	MCF-7	breast:
7	chr11:66297902..66299983-chr11:66312250..66313897,2	MCF-7	breast:
8	chr11:66290316..66295871-chr11:66296274..66298887,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248746	Chromatin interaction
ENSG00000174165	Chromatin interaction
ENSG00000174483	Chromatin interaction
ENSG00000173914	Chromatin interaction
ENSG00000173653	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10501397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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	0.91[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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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]
rs11227509	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227511	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227512	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227527	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11227534	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11550299	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11821155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11822028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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	1.00[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	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17147644	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17495838	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17496250	1.00[CEU][hapmap];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	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2276406	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2277302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2290462	0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs2298806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[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[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3741360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816492	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3819247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825065	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3892818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4630309	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4930182	0.87[EUR][1000 genomes]
rs4930183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4930379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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]
rs506028	0.89[JPT][hapmap]
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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57596493	0.94[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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7950790	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2305533	CTD-3074O7.5	cis	Esophagus Mucosa	GTEx
rs2305533	DPP3	cis	Nerve Tibial	GTEx
rs2305533	DPP3	cis	Thyroid	GTEx
rs2305533	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	chr11:66279000-66303000	Weak transcription	Primary B cells from cord blood	blood
5	chr11:66279000-66306200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:66279000-66309200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:66279000-66313000	Weak transcription	Small Intestine	intestine
8	chr11:66279200-66309800	Weak transcription	HUVEC	blood vessel
9	chr11:66279200-66310400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:66279200-66310800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:66279200-66310800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:66279400-66311000	Weak transcription	Fetal Brain Male	brain
13	chr11:66279400-66311200	Weak transcription	Right Atrium	heart
14	chr11:66279800-66305200	Strong transcription	Fetal Muscle Leg	muscle
15	chr11:66281000-66311000	Strong transcription	Fetal Stomach	stomach
16	chr11:66282000-66309600	Weak transcription	NHDF-Ad	bronchial
17	chr11:66283400-66312800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr11:66286200-66301000	Strong transcription	Placenta	Placenta
19	chr11:66286200-66301200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:66287400-66299200	Weak transcription	HepG2	liver
21	chr11:66289000-66308200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr11:66289000-66309800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:66289000-66312800	Weak transcription	Stomach Mucosa	stomach
24	chr11:66290200-66310800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr11:66290800-66302800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:66291000-66303000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:66291000-66309800	Weak transcription	HSMM	muscle
28	chr11:66291200-66302800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:66291200-66303200	Weak transcription	Left Ventricle	heart
30	chr11:66291200-66306200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:66291200-66309800	Weak transcription	NH-A	brain
32	chr11:66291200-66311600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:66291400-66300000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:66291400-66303200	Weak transcription	Osteobl	bone
35	chr11:66291400-66304200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:66291400-66304400	Weak transcription	Psoas Muscle	Psoas
37	chr11:66291400-66305800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:66291400-66305800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:66291400-66309400	Weak transcription	A549	lung
40	chr11:66291400-66309600	Weak transcription	GM12878-XiMat	blood
41	chr11:66291400-66311000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:66291600-66299400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr11:66291600-66306200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr11:66291600-66309200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr11:66291600-66309800	Weak transcription	HMEC	breast
46	chr11:66291600-66312600	Weak transcription	NHEK	skin
47	chr11:66292000-66303000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:66292000-66306200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr11:66292000-66306200	Weak transcription	Dnd41	blood
50	chr11:66292000-66306600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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