Variant report

Variant	rs11158588
Chromosome Location	chr14:65799876-65799877
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65797557..65800177-chr14:65876391..65878682,2	MCF-7	breast:
2	chr14:65794502..65796026-chr14:65798643..65801165,2	MCF-7	breast:
3	chr14:65799114..65802639-chr14:65877920..65880470,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10132229	0.81[JPT][hapmap]
rs2127868	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2127869	0.86[ASN][1000 genomes]
rs2127870	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4899172	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4899173	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4902387	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4902388	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4902389	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7143109	0.82[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.89[ASN][1000 genomes]
rs899961	0.82[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.89[ASN][1000 genomes]
rs9635249	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
5	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11158588	CTD-2509G16.2	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65788400-65800600	Weak transcription	Thymus	Thymus
2	chr14:65789000-65800600	Weak transcription	Primary T cells from cord blood	blood
3	chr14:65795400-65804600	Enhancers	Primary B cells from peripheral blood	blood
4	chr14:65796000-65807200	Enhancers	Placenta	Placenta
5	chr14:65796800-65800600	Weak transcription	Fetal Thymus	thymus
6	chr14:65796800-65800800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:65796800-65800800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:65797000-65801200	Weak transcription	Spleen	Spleen
9	chr14:65797400-65800800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:65797400-65800800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr14:65797800-65800600	Weak transcription	Gastric	stomach
12	chr14:65797800-65800800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:65798000-65803000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:65798200-65800600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:65798400-65802600	Enhancers	Primary hematopoietic stem cells	blood
16	chr14:65798400-65803400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr14:65798600-65801200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr14:65798600-65802400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:65798800-65800000	Enhancers	HUVEC	blood vessel
20	chr14:65798800-65800200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr14:65798800-65802200	Enhancers	Small Intestine	intestine
22	chr14:65798800-65802600	Enhancers	Primary B cells from cord blood	blood
23	chr14:65798800-65803000	Enhancers	GM12878-XiMat	blood
24	chr14:65799000-65800200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr14:65799000-65800800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:65799000-65800800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:65799000-65800800	Enhancers	NHLF	lung
28	chr14:65799000-65801200	Enhancers	NHDF-Ad	bronchial
29	chr14:65799000-65802200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:65799000-65803400	Enhancers	Adipose Nuclei	Adipose
31	chr14:65799200-65800400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:65799200-65800400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:65799200-65803400	Enhancers	NHEK	skin
34	chr14:65799200-65805400	Enhancers	Fetal Intestine Large	intestine
35	chr14:65799400-65800000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:65799400-65801000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr14:65799400-65801200	Enhancers	Duodenum Mucosa	Duodenum
38	chr14:65799400-65804200	Enhancers	Stomach Mucosa	stomach
39	chr14:65799600-65800000	Enhancers	Colon Smooth Muscle	Colon
40	chr14:65799600-65800000	Enhancers	NH-A	brain
41	chr14:65799600-65800200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:65799600-65800600	Weak transcription	Colonic Mucosa	Colon
43	chr14:65799600-65800800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr14:65799600-65800800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:65799600-65801000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr14:65799600-65801200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr14:65799800-65800800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr14:65799800-65800800	Weak transcription	HMEC	breast
49	chr14:65799800-65801000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:65799800-65803400	Enhancers	Sigmoid Colon	Sigmoid Colon

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