Variant report

Variant	rs8004561
Chromosome Location	chr14:77792053-77792054
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	RAD21	chr14:77792028-77792768	HepG2	liver:	n/a	chr14:77792216-77792230
2	RAD21	chr14:77792037-77792715	HepG2	liver:	n/a	chr14:77792216-77792230
3	RAD21	chr14:77792035-77792833	H1-hESC	embryonic stem cell:	n/a	chr14:77792216-77792230
4	CTCF	chr14:77791748-77792953	MCF-7	breast:	n/a	chr14:77792217-77792230 chr14:77792330-77792346
5	POLR2A	chr14:77791833-77792389	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr14:77791831-77792143	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:77791692-77792066	K562	blood:	n/a	n/a
8	ZNF263	chr14:77791873-77792498	HEK293-T-REx	kidney:	n/a	chr14:77792386-77792395
9	POLR2A	chr14:77791628-77794448	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr14:77791735-77793599	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:77790811..77792920-chr14:77841645..77843708,2	MCF-7	breast:
2	chr14:77791824..77793405-chr14:77843475..77845191,2	K562	blood:
3	chr14:77623679..77628078-chr14:77791213..77793958,3	MCF-7	breast:
4	chr14:77789665..77794031-chr14:77921841..77927059,7	MCF-7	breast:
5	chr14:77785710..77794377-chr14:77836948..77846491,26	MCF-7	breast:

Variant related genes	Relation type
GSTZ1	TF binding region
POMT2	TF binding region
ENSG00000100583	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000100580	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs72681234	1.00[EUR][1000 genomes]
rs8004558	1.00[JPT][hapmap]
rs8177544	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8177550	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs888410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][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:70 , 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	chr14:77789000-77792200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:77789000-77796000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:77789000-77804000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:77789000-77805200	Weak transcription	Osteobl	bone
11	chr14:77789000-77805400	Weak transcription	Primary T cells from cord blood	blood
12	chr14:77789000-77805400	Weak transcription	A549	lung
13	chr14:77789000-77805600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:77789000-77805600	Weak transcription	Left Ventricle	heart
15	chr14:77789000-77805800	Weak transcription	Fetal Thymus	thymus
16	chr14:77789000-77806000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:77789000-77806000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr14:77789000-77806000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:77789000-77806000	Weak transcription	Colon Smooth Muscle	Colon
20	chr14:77789000-77806200	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:77789000-77806200	Weak transcription	Lung	lung
22	chr14:77789000-77806400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr14:77789000-77807600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:77789200-77793600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr14:77789200-77800800	Weak transcription	Primary B cells from cord blood	blood
26	chr14:77789200-77801000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr14:77789200-77801200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:77789200-77801200	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr14:77789200-77801400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:77789200-77801600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:77789200-77801800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:77789200-77802000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:77789200-77802000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr14:77789200-77804400	Weak transcription	Brain Anterior Caudate	brain
35	chr14:77789200-77805200	Weak transcription	Fetal Intestine Large	intestine
36	chr14:77789200-77805400	Weak transcription	GM12878-XiMat	blood
37	chr14:77789200-77805600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:77789200-77805600	Weak transcription	Fetal Brain Female	brain
39	chr14:77789200-77805600	Weak transcription	Pancreas	Pancrea
40	chr14:77789200-77805800	Weak transcription	Fetal Muscle Leg	muscle
41	chr14:77789200-77805800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr14:77789200-77805800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr14:77789200-77806200	Weak transcription	Fetal Lung	lung
44	chr14:77789200-77806400	Weak transcription	Esophagus	oesophagus
45	chr14:77789200-77806800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:77789200-77807000	Weak transcription	Brain Angular Gyrus	brain
47	chr14:77789200-77818200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr14:77789400-77794000	Weak transcription	Spleen	Spleen
49	chr14:77789400-77801400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr14:77789400-77801600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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