Variant report

Variant	rs2045462
Chromosome Location	chr11:93227263-93227264
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93225464..93227548-chr11:93228029..93230930,2	MCF-7	breast:
2	chr11:93225163..93228143-chr15:84362432..84365249,2	MCF-7	breast:
3	chr11:93226135..93229081-chr11:93229518..93231367,2	K562	blood:
4	chr11:93220240..93222111-chr11:93226701..93229455,2	K562	blood:

Variant related genes	Relation type
ENSG00000156218	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10831050	0.87[CEU][hapmap];0.87[LWK][hapmap];0.92[MKK][hapmap];0.90[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10831053	1.00[ASW][hapmap];0.82[LWK][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11020381	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11020389	1.00[ASN][1000 genomes]
rs11020403	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11820614	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834	0.96[CEU][hapmap];0.93[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1869912	1.00[ASN][1000 genomes]
rs2045313	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2045459	0.92[EUR][1000 genomes]
rs2045461	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2198797	0.85[ASW][hapmap];1.00[ASN][1000 genomes]
rs2605591	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605592	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605594	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605595	0.96[CEU][hapmap];0.93[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605598	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605599	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605601	0.96[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605602	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605605	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608273	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608277	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608278	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658794	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658795	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658796	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658800	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658802	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2939621	0.89[EUR][1000 genomes]
rs6483246	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114771	1.00[ASW][hapmap];0.87[CEU][hapmap];0.87[LWK][hapmap];0.93[MEX][hapmap];0.90[MKK][hapmap];0.90[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124358	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897556	0.81[AFR][1000 genomes];1.00[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	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	esv2760208	chr11:93172673-93266594	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2045462	C11orf75	cis	lymphoblastoid	seeQTL

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93207000-93239000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:93209000-93231400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:93209000-93235200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:93209200-93229200	Weak transcription	Dnd41	blood
5	chr11:93209600-93229400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:93210600-93231600	Weak transcription	A549	lung
7	chr11:93211000-93253400	Weak transcription	Primary T cells from cord blood	blood
8	chr11:93211600-93243800	Weak transcription	Fetal Thymus	thymus
9	chr11:93212200-93234800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:93214800-93234400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:93216600-93228600	Enhancers	Liver	Liver
12	chr11:93218600-93254400	Weak transcription	Hela-S3	cervix
13	chr11:93218800-93231800	Weak transcription	Ovary	ovary
14	chr11:93218800-93238200	Weak transcription	Esophagus	oesophagus
15	chr11:93218800-93245800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:93219800-93227600	Weak transcription	Right Ventricle	heart
17	chr11:93220200-93228800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr11:93220600-93230600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr11:93220600-93230800	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:93220600-93232000	Weak transcription	Left Ventricle	heart
21	chr11:93220800-93227800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:93220800-93235400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:93221200-93228000	Weak transcription	HSMMtube	muscle
24	chr11:93222000-93231600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:93222200-93232000	Weak transcription	Spleen	Spleen
26	chr11:93222400-93238000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr11:93222800-93231800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:93222800-93236000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr11:93223000-93242800	Weak transcription	Adipose Nuclei	Adipose
30	chr11:93224000-93228400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr11:93224600-93228400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr11:93224800-93230600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:93224800-93230600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:93225000-93227400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:93225400-93227400	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr11:93225400-93227800	Enhancers	Pancreas	Pancrea
37	chr11:93225400-93230400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:93225400-93242800	Weak transcription	GM12878-XiMat	blood
39	chr11:93225600-93227600	Weak transcription	Fetal Stomach	stomach
40	chr11:93225600-93230400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr11:93225600-93230600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr11:93225600-93230800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:93225600-93231800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:93225600-93248800	Weak transcription	Fetal Muscle Leg	muscle
45	chr11:93225800-93229400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:93225800-93232800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:93226000-93228200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr11:93226000-93230400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:93226000-93230600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr11:93226000-93235000	Weak transcription	Small Intestine	intestine

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