Variant report

Variant	rs11158548
Chromosome Location	chr14:65111610-65111611
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65005413..65007156-chr14:65110465..65112406,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259116	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10130241	0.83[ASN][1000 genomes]
rs10130755	0.89[ASN][1000 genomes]
rs10132794	1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs10133861	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10134770	1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs10138611	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10140678	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10144661	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs10145003	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10145101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10145275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145844	0.88[ASN][1000 genomes]
rs10150987	0.81[ASN][1000 genomes]
rs10151656	1.00[CHB][hapmap];0.91[CHD][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs10467818	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10498516	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11158547	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11158549	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11158550	0.90[AFR][1000 genomes]
rs11158551	0.90[AFR][1000 genomes]
rs11844669	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];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11846008	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11846264	0.88[CHB][hapmap];0.88[GIH][hapmap]
rs11848587	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];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11850291	1.00[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs12586275	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12588437	0.85[ASN][1000 genomes]
rs12588509	1.00[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs17101956	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1955661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1955662	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1955663	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2123458	0.87[ASN][1000 genomes]
rs28714198	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28761289	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2884269	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56039018	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56396472	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56690759	0.85[ASN][1000 genomes]
rs58268586	0.90[AFR][1000 genomes]
rs58273663	0.90[AFR][1000 genomes]
rs61067746	0.90[AFR][1000 genomes]
rs61987035	0.81[ASN][1000 genomes]
rs61987036	0.85[ASN][1000 genomes]
rs61987038	0.88[ASN][1000 genomes]
rs7140482	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7148864	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7153518	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7156649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7160131	0.94[CHB][hapmap]
rs74056339	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs74056358	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74056359	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8006017	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11158548	ZBTB25	cis	multi-tissue	Pritchard
rs11158548	ZBTB25	cis	cerebellum	SCAN
rs11158548	ZBTB25	cis	lymphoblastoid	seeQTL

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65103800-65111800	Weak transcription	Fetal Heart	heart
2	chr14:65103800-65112400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr14:65106800-65112600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:65106800-65112600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:65106800-65115400	Weak transcription	Fetal Intestine Small	intestine
6	chr14:65107000-65111800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:65107000-65112000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:65107000-65112000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:65108000-65111800	Weak transcription	HMEC	breast
10	chr14:65108200-65112000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:65108800-65111800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:65110600-65116200	Enhancers	Placenta	Placenta
13	chr14:65111000-65113200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:65111000-65113400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr14:65111200-65111800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:65111200-65112000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr14:65111200-65112000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr14:65111200-65112000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr14:65111200-65112000	Enhancers	A549	lung
20	chr14:65111200-65112400	Enhancers	Colon Smooth Muscle	Colon
21	chr14:65111200-65113200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr14:65111200-65113200	Enhancers	HSMMtube	muscle
23	chr14:65111200-65113400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:65111400-65112000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:65111400-65112000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr14:65111400-65112200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:65111400-65112200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr14:65111400-65113200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr14:65111400-65113200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:65111400-65113200	Enhancers	Fetal Stomach	stomach
31	chr14:65111400-65113200	Enhancers	Ovary	ovary
32	chr14:65111400-65113200	Enhancers	Rectal Smooth Muscle	rectum
33	chr14:65111400-65113200	Enhancers	NH-A	brain
34	chr14:65111400-65113400	Enhancers	Fetal Muscle Leg	muscle
35	chr14:65111600-65111800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:65111600-65112200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:65111600-65112400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:65111600-65112400	Enhancers	Osteobl	bone
39	chr14:65111600-65112600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr14:65111600-65112800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:65111600-65112800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:65111600-65113000	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr14:65111600-65113200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr14:65111600-65113200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr14:65111600-65113200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr14:65111600-65113200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:65111600-65113200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:65111600-65113400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:65111600-65113400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr14:65111600-65113400	Enhancers	HSMM	muscle

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