Variant report

Variant	rs1061332
Chromosome Location	chr11:121178302-121178303
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:121175030..121177296-chr11:121177510..121179226,2	MCF-7	breast:
2	chr11:121173775..121175473-chr11:121177046..121178773,2	K562	blood:

Variant related genes	Relation type
ENSG00000109929	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10219304	0.90[CHB][hapmap]
rs10750182	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10750183	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10790432	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1583124	0.84[CEU][hapmap];0.95[CHB][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2163281	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6589870	0.84[CEU][hapmap];0.95[CHB][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7115581	0.84[CEU][hapmap];0.95[CHB][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7115602	0.84[CEU][hapmap];0.95[CHB][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7119061	0.90[CHB][hapmap]
rs7128047	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7128342	0.84[CEU][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs751417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	nsv898424	chr11:121108865-121206354	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv898425	chr11:121115206-121215237	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv898426	chr11:121136604-121206354	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1061332	OR8B8	cis	parietal	SCAN
rs1061332	SC5DL	Cis_1M	lymphoblastoid	RTeQTL
rs1061332	TBRG1	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121164000-121181400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:121164200-121179600	Weak transcription	Spleen	Spleen
3	chr11:121164200-121183000	Weak transcription	Esophagus	oesophagus
4	chr11:121164400-121179400	Weak transcription	Colonic Mucosa	Colon
5	chr11:121164400-121183000	Weak transcription	Fetal Stomach	stomach
6	chr11:121164600-121180200	Weak transcription	K562	blood
7	chr11:121164800-121182000	Weak transcription	A549	lung
8	chr11:121165000-121189400	Weak transcription	Fetal Intestine Small	intestine
9	chr11:121171600-121179600	Weak transcription	Gastric	stomach
10	chr11:121171600-121181600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:121171600-121181800	Weak transcription	Pancreas	Pancrea
12	chr11:121171600-121182000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:121171600-121189600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:121171800-121179800	Weak transcription	Small Intestine	intestine
15	chr11:121171800-121190200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:121172600-121180600	Strong transcription	Dnd41	blood
17	chr11:121172600-121182000	Strong transcription	Primary T cells from cord blood	blood
18	chr11:121172800-121180800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:121173200-121180200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:121173200-121180600	Strong transcription	HMEC	breast
21	chr11:121173200-121181200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:121173400-121180600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:121173400-121180800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:121173400-121180800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:121173400-121181000	Strong transcription	HSMMtube	muscle
26	chr11:121173600-121178800	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr11:121173600-121178800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:121173600-121180200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:121173600-121180200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:121173800-121179400	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr11:121173800-121179400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:121173800-121179600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:121173800-121180200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:121173800-121180800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:121174000-121179800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:121174000-121179800	Strong transcription	GM12878-XiMat	blood
37	chr11:121174000-121180000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:121174000-121180800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:121174000-121180800	Strong transcription	HSMM	muscle
40	chr11:121174000-121181000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:121174200-121179000	Strong transcription	Primary B cells from peripheral blood	blood
42	chr11:121174200-121180200	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr11:121174200-121180800	Strong transcription	Adipose Nuclei	Adipose
44	chr11:121174200-121180800	Strong transcription	Liver	Liver
45	chr11:121174400-121179400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:121174400-121180000	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr11:121174400-121180600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:121174600-121179000	Strong transcription	HepG2	liver
49	chr11:121174600-121179400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:121174600-121180000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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