Variant report

Variant	rs8177546
Chromosome Location	chr14:77789576-77789577
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:77789534-77789649	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:77787549..77790264-chr14:77928506..77931057,2	MCF-7	breast:
2	chr14:77646577..77649681-chr14:77786771..77790034,4	MCF-7	breast:
3	chr14:77559718..77567556-chr14:77781210..77790475,16	MCF-7	breast:
4	chr14:77785522..77790160-chr14:77881086..77890187,11	MCF-7	breast:
5	chr14:77785710..77794377-chr14:77836948..77846491,26	MCF-7	breast:
6	chr14:77788050..77790932-chr19:12894264..12897215,2	MCF-7	breast:
7	chr14:77786039..77790135-chr14:77842733..77846742,6	MCF-7	breast:

No data

Variant related genes	Relation type
POMT2	TF binding region
GSTZ1	TF binding region
ENSG00000259164	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000100583	Chromatin interaction
ENSG00000198894	Chromatin interaction
ENSG00000268156	Chromatin interaction
ENSG00000165555	Chromatin interaction
ENSG00000100580	Chromatin interaction
ENSG00000267212	Chromatin interaction
ENSG00000165548	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10132095	1.00[CEU][hapmap]
rs17105658	0.86[AMR][1000 genomes]
rs17105674	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2287397	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2302831	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3742739	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4903566	1.00[JPT][hapmap]
rs55886156	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55891221	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56018212	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56067603	0.82[ASN][1000 genomes]
rs56091500	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56403921	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6574364	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs72681222	0.86[AMR][1000 genomes]
rs72681225	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72681227	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72681229	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72681235	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72681243	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72681261	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681262	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681263	0.85[EUR][1000 genomes]
rs72681264	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681265	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681270	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681275	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681276	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681278	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681279	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681280	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681281	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681283	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681284	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73311381	0.82[ASN][1000 genomes]
rs8177560	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177565	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177567	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177568	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177571	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.92[EUR][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	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902105	chr14:77764884-77801431	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv902106	chr14:77767978-77801431	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8177546	GSTZ1	cis	multi-tissue	Pritchard

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77788400-77790800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:77788600-77802800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:77788600-77806000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr14:77788600-77806200	Weak transcription	Thymus	Thymus
5	chr14:77788800-77789600	Enhancers	Primary T cells fromperipheralblood	blood
6	chr14:77788800-77790000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:77788800-77791000	Weak transcription	Fetal Stomach	stomach
8	chr14:77788800-77791400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:77788800-77804600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:77788800-77805200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:77788800-77806400	Weak transcription	Colonic Mucosa	Colon
12	chr14:77789000-77789600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr14:77789000-77789600	Active TSS	Rectal Smooth Muscle	rectum
14	chr14:77789000-77790000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr14:77789000-77790000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:77789000-77790000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:77789000-77790000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:77789000-77790000	Weak transcription	Fetal Intestine Small	intestine
19	chr14:77789000-77790200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:77789000-77790200	Enhancers	Liver	Liver
21	chr14:77789000-77790800	Weak transcription	Placenta	Placenta
22	chr14:77789000-77791000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr14:77789000-77791800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr14:77789000-77792200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:77789000-77796000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:77789000-77804000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:77789000-77805200	Weak transcription	Osteobl	bone
28	chr14:77789000-77805400	Weak transcription	Primary T cells from cord blood	blood
29	chr14:77789000-77805400	Weak transcription	A549	lung
30	chr14:77789000-77805600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr14:77789000-77805600	Weak transcription	Left Ventricle	heart
32	chr14:77789000-77805800	Weak transcription	Fetal Thymus	thymus
33	chr14:77789000-77806000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:77789000-77806000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr14:77789000-77806000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:77789000-77806000	Weak transcription	Colon Smooth Muscle	Colon
37	chr14:77789000-77806200	Weak transcription	Brain Hippocampus Middle	brain
38	chr14:77789000-77806200	Weak transcription	Lung	lung
39	chr14:77789000-77806400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr14:77789000-77807600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:77789200-77790000	Weak transcription	HepG2	liver
42	chr14:77789200-77790200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr14:77789200-77790800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:77789200-77791000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr14:77789200-77791000	Weak transcription	Gastric	stomach
46	chr14:77789200-77791000	Weak transcription	Psoas Muscle	Psoas
47	chr14:77789200-77791200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:77789200-77791400	Weak transcription	Brain Substantia Nigra	brain
49	chr14:77789200-77791600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr14:77789200-77791600	Weak transcription	Brain Cingulate Gyrus	brain

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