Variant report

Variant	rs8177560
Chromosome Location	chr14:77793006-77793007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:77792977-77793328	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:77792947-77793031	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr14:77791628-77794448	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr14:77791735-77793599	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:77791824..77793405-chr14:77843475..77845191,2	K562	blood:
2	chr14:77623679..77628078-chr14:77791213..77793958,3	MCF-7	breast:
3	chr14:77789665..77794031-chr14:77921841..77927059,7	MCF-7	breast:
4	chr14:77785710..77794377-chr14:77836948..77846491,26	MCF-7	breast:

Variant related genes	Relation type
GSTZ1	TF binding region
ENSG00000151445	Chromatin interaction
ENSG00000100580	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000100583	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10132095	1.00[CEU][hapmap]
rs17105674	0.81[EUR][1000 genomes]
rs2287397	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2302831	0.81[EUR][1000 genomes]
rs3742739	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4903566	1.00[JPT][hapmap]
rs55886156	0.81[EUR][1000 genomes]
rs55891221	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56018212	0.81[EUR][1000 genomes]
rs56067603	0.82[ASN][1000 genomes]
rs56091500	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56403921	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6574364	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs72681225	0.81[EUR][1000 genomes]
rs72681227	0.81[EUR][1000 genomes]
rs72681229	0.81[EUR][1000 genomes]
rs72681235	0.81[EUR][1000 genomes]
rs72681243	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72681261	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681262	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681263	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72681264	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681265	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681270	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681275	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681276	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681278	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681279	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681280	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681281	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681283	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681284	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73311381	0.82[ASN][1000 genomes]
rs8177546	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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177571	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv902107	chr14:77790416-77871777	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77788600-77802800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:77788600-77806000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:77788600-77806200	Weak transcription	Thymus	Thymus
4	chr14:77788800-77804600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:77788800-77805200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:77788800-77806400	Weak transcription	Colonic Mucosa	Colon
7	chr14:77789000-77796000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:77789000-77804000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:77789000-77805200	Weak transcription	Osteobl	bone
10	chr14:77789000-77805400	Weak transcription	Primary T cells from cord blood	blood
11	chr14:77789000-77805400	Weak transcription	A549	lung
12	chr14:77789000-77805600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr14:77789000-77805600	Weak transcription	Left Ventricle	heart
14	chr14:77789000-77805800	Weak transcription	Fetal Thymus	thymus
15	chr14:77789000-77806000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:77789000-77806000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:77789000-77806000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:77789000-77806000	Weak transcription	Colon Smooth Muscle	Colon
19	chr14:77789000-77806200	Weak transcription	Brain Hippocampus Middle	brain
20	chr14:77789000-77806200	Weak transcription	Lung	lung
21	chr14:77789000-77806400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr14:77789000-77807600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:77789200-77793600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr14:77789200-77800800	Weak transcription	Primary B cells from cord blood	blood
25	chr14:77789200-77801000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr14:77789200-77801200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:77789200-77801200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr14:77789200-77801400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:77789200-77801600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:77789200-77801800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:77789200-77802000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr14:77789200-77802000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr14:77789200-77804400	Weak transcription	Brain Anterior Caudate	brain
34	chr14:77789200-77805200	Weak transcription	Fetal Intestine Large	intestine
35	chr14:77789200-77805400	Weak transcription	GM12878-XiMat	blood
36	chr14:77789200-77805600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:77789200-77805600	Weak transcription	Fetal Brain Female	brain
38	chr14:77789200-77805600	Weak transcription	Pancreas	Pancrea
39	chr14:77789200-77805800	Weak transcription	Fetal Muscle Leg	muscle
40	chr14:77789200-77805800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr14:77789200-77805800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr14:77789200-77806200	Weak transcription	Fetal Lung	lung
43	chr14:77789200-77806400	Weak transcription	Esophagus	oesophagus
44	chr14:77789200-77806800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:77789200-77807000	Weak transcription	Brain Angular Gyrus	brain
46	chr14:77789200-77818200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr14:77789400-77794000	Weak transcription	Spleen	Spleen
48	chr14:77789400-77801400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr14:77789400-77801600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr14:77789400-77805800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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