Variant report

Variant	rs2658767
Chromosome Location	chr11:93248483-93248484
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1563635	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs2248020	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs2248524	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs2605618	0.80[ASW][hapmap];0.96[CEU][hapmap];0.88[LWK][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes]
rs2605621	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605625	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2608213	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs897557	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2658767	C11orf54	cis	parietal	SCAN
rs2658767	CHORDC1	cis	parietal	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93211000-93253400	Weak transcription	Primary T cells from cord blood	blood
2	chr11:93218600-93254400	Weak transcription	Hela-S3	cervix
3	chr11:93225600-93248800	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:93226400-93257400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:93227200-93257600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:93232800-93248800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:93233000-93248800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr11:93233000-93248800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:93233000-93257400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:93233400-93248600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:93234800-93250400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:93235200-93250200	Weak transcription	Aorta	Aorta
13	chr11:93235400-93257800	Weak transcription	Gastric	stomach
14	chr11:93235600-93258800	Weak transcription	Small Intestine	intestine
15	chr11:93235800-93252600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:93237000-93248800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:93238400-93259000	Weak transcription	Fetal Lung	lung
18	chr11:93238600-93248800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:93239600-93255600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:93241000-93252400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:93241000-93254200	Weak transcription	HepG2	liver
22	chr11:93241800-93257400	Weak transcription	Fetal Intestine Large	intestine
23	chr11:93243200-93252200	Weak transcription	Dnd41	blood
24	chr11:93243400-93248800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:93243400-93250000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:93243800-93248600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:93243800-93255600	Weak transcription	Fetal Intestine Small	intestine
28	chr11:93244000-93248800	Weak transcription	Right Ventricle	heart
29	chr11:93244000-93254400	Weak transcription	Pancreas	Pancrea
30	chr11:93244200-93253800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:93244600-93248800	Weak transcription	Fetal Thymus	thymus
32	chr11:93244600-93248800	Weak transcription	Left Ventricle	heart
33	chr11:93244600-93248800	Weak transcription	Lung	lung
34	chr11:93244800-93254000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:93246400-93250200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr11:93246800-93248800	Weak transcription	Spleen	Spleen
37	chr11:93247600-93248800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr11:93248000-93249400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr11:93248000-93261800	Weak transcription	Fetal Stomach	stomach
40	chr11:93248200-93248800	Enhancers	Adipose Nuclei	Adipose
41	chr11:93248200-93248800	Enhancers	Brain Hippocampus Middle	brain
42	chr11:93248400-93249200	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr11:93248400-93249200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:93248400-93249200	Enhancers	Liver	Liver
45	chr11:93248400-93249200	Enhancers	GM12878-XiMat	blood
46	chr11:93248400-93249200	Enhancers	Monocytes-CD14+_RO01746	blood

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