Variant report

Variant	rs4453265
Chromosome Location	chr11:73785326-73785327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73779673..73783473-chr11:73783793..73787357,3	K562	blood:
2	chr11:73780196..73782552-chr11:73785196..73788423,3	MCF-7	breast:
3	chr11:73679761..73681646-chr11:73783765..73786370,2	K562	blood:
4	chr11:73691101..73695528-chr11:73777647..73786599,14	MCF-7	breast:
5	chr11:73784249..73785806-chr11:73788589..73790911,2	MCF-7	breast:
6	chr11:73779701..73782835-chr11:73783436..73786743,4	K562	blood:

Variant related genes	Relation type
ENSG00000175567	Chromatin interaction
ENSG00000255847	Chromatin interaction
ENSG00000168014	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10898954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10898956	0.84[ASN][1000 genomes]
rs1614299	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1615115	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1726735	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1726744	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1726746	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1726751	0.89[CEU][hapmap]
rs1726752	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1726759	0.86[YRI][hapmap]
rs1726764	0.91[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap]
rs1783537	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap]
rs1790381	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1790398	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1790399	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1790404	0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2007567	0.82[ASN][1000 genomes]
rs474835	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.84[JPT][hapmap];0.89[TSI][hapmap]
rs4944036	0.89[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.90[YRI][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4944038	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4944878	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500608	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.89[TSI][hapmap]
rs575096	0.81[EUR][1000 genomes]
rs6592545	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120494	0.86[YRI][hapmap]
rs7121868	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7483884	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs826033	0.85[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs826039	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs826042	0.80[YRI][hapmap]
rs826048	0.90[YRI][hapmap]
rs826056	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs826061	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs826062	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs826066	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs826071	0.86[YRI][hapmap]
rs826072	0.86[YRI][hapmap]
rs826073	0.86[YRI][hapmap]
rs826075	0.86[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4453265	IL18BP	cis	parietal	SCAN
rs4453265	C2CD3	cis	parietal	SCAN
rs4453265	P4HA3	cis	Thyroid	GTEx
rs4453265	P4HA3	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73730800-73800800	Weak transcription	Fetal Heart	heart
2	chr11:73750800-73800400	Weak transcription	HMEC	breast
3	chr11:73753200-73796400	Weak transcription	Small Intestine	intestine
4	chr11:73753200-73804600	Weak transcription	Colonic Mucosa	Colon
5	chr11:73760000-73802600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:73768800-73798200	Weak transcription	NHEK	skin
7	chr11:73769000-73788600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:73771200-73789000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:73777000-73788400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:73777600-73788600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:73777600-73818600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:73778000-73790600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:73778200-73786000	Strong transcription	Left Ventricle	heart
14	chr11:73778200-73789800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:73778200-73791000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:73778400-73786000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:73778400-73786000	Strong transcription	HSMMtube	muscle
18	chr11:73778400-73790000	Strong transcription	Fetal Thymus	thymus
19	chr11:73778800-73785600	Strong transcription	Primary hematopoietic stem cells	blood
20	chr11:73778800-73786000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr11:73778800-73790200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr11:73778800-73790400	Strong transcription	Fetal Muscle Leg	muscle
23	chr11:73778800-73790400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr11:73778800-73792800	Strong transcription	Primary B cells from cord blood	blood
25	chr11:73779000-73785600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:73779000-73785600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:73779000-73785800	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr11:73779000-73790200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr11:73779000-73792600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr11:73779200-73791000	Strong transcription	Fetal Muscle Trunk	muscle
31	chr11:73779400-73785800	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr11:73779600-73790800	Strong transcription	Primary T cells from cord blood	blood
33	chr11:73779800-73789000	Weak transcription	HepG2	liver
34	chr11:73780200-73785400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr11:73780200-73785800	Strong transcription	HSMM	muscle
36	chr11:73780200-73790400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr11:73780200-73790800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr11:73780400-73786000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:73780400-73787000	Strong transcription	Fetal Intestine Large	intestine
40	chr11:73780600-73785400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:73780600-73790000	Strong transcription	Hela-S3	cervix
42	chr11:73780600-73790400	Strong transcription	Dnd41	blood
43	chr11:73780800-73785400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:73781200-73785600	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:73781200-73785800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:73781200-73785800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr11:73781200-73786400	Strong transcription	Liver	Liver
48	chr11:73781200-73795800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr11:73781400-73785600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:73781400-73785800	Strong transcription	Sigmoid Colon	Sigmoid Colon

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