Variant report

Variant	rs3736045
Chromosome Location	chr8:104242470-104242471
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	TCF12	chr8:104241389-104242556	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr8:104241687-104242618	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr8:104241838-104242523	MCF10A-Er-Src	breast:	n/a	n/a
4	NFIC	chr8:104241854-104242494	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr8:104241472-104242559	SK-N-SH	brain:	n/a	n/a
6	MYC	chr8:104242018-104242475	MCF10A-Er-Src	breast:	n/a	n/a
7	GATA3	chr8:104241412-104242522	SK-N-SH	brain:	n/a	n/a
8	USF1	chr8:104242172-104242530	SK-N-SH	brain:	n/a	n/a
9	PBX3	chr8:104241906-104242530	SK-N-SH	brain:	n/a	n/a
10	TCF12	chr8:104241341-104242674	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104224914..104226448-chr8:104241581..104244349,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253851	TF binding region
ENSG00000164929	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10089245	0.82[ASN][1000 genomes]
rs10103573	0.84[ASN][1000 genomes]
rs11782632	0.82[ASN][1000 genomes]
rs12678419	0.86[ASN][1000 genomes]
rs17799574	0.82[ASN][1000 genomes]
rs2201369	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2201370	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs35710705	0.82[ASN][1000 genomes]
rs57766637	0.88[ASN][1000 genomes]
rs60751214	0.88[ASN][1000 genomes]
rs62525471	0.86[ASN][1000 genomes]
rs6985929	0.91[ASN][1000 genomes]
rs7002454	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7005789	0.91[ASN][1000 genomes]
rs73283939	0.91[ASN][1000 genomes]
rs73283943	0.91[ASN][1000 genomes]
rs73283949	0.88[ASN][1000 genomes]
rs7817074	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7818987	0.91[ASN][1000 genomes]
rs7822939	0.91[ASN][1000 genomes]
rs7835655	0.91[ASN][1000 genomes]
rs7844873	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	esv14660	chr8:104182119-104245529	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1017326	chr8:104236193-104313235	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104226400-104242800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:104227600-104245400	Weak transcription	Fetal Brain Male	brain
3	chr8:104231200-104243000	Weak transcription	Esophagus	oesophagus
4	chr8:104237600-104242800	Strong transcription	Primary hematopoietic stem cells	blood
5	chr8:104238400-104242800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:104238400-104245200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:104240000-104243000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:104240200-104243000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:104240200-104243000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:104240600-104243200	Enhancers	HUVEC	blood vessel
11	chr8:104240800-104242800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:104240800-104243200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:104240800-104243600	Enhancers	Fetal Heart	heart
14	chr8:104241000-104242600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:104241000-104242600	Enhancers	Brain Cingulate Gyrus	brain
16	chr8:104241000-104243000	Enhancers	NHDF-Ad	bronchial
17	chr8:104241200-104242600	Enhancers	Brain Anterior Caudate	brain
18	chr8:104241200-104242800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:104241200-104242800	Enhancers	NHLF	lung
20	chr8:104241400-104242600	Enhancers	Brain Hippocampus Middle	brain
21	chr8:104241400-104242600	Enhancers	HSMMtube	muscle
22	chr8:104241400-104242800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:104241400-104243000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:104241400-104243000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:104241400-104243000	Weak transcription	Spleen	Spleen
26	chr8:104241400-104243000	Enhancers	HSMM	muscle
27	chr8:104241600-104242600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr8:104241600-104242600	Enhancers	NH-A	brain
29	chr8:104241600-104243600	Enhancers	Dnd41	blood
30	chr8:104241800-104242800	Weak transcription	Fetal Stomach	stomach
31	chr8:104242000-104242600	Weak transcription	Brain Angular Gyrus	brain
32	chr8:104242000-104242800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr8:104242000-104243000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:104242000-104243200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:104242000-104245200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:104242200-104242600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:104242200-104242800	Enhancers	Fetal Brain Female	brain
38	chr8:104242200-104243000	Enhancers	Aorta	Aorta
39	chr8:104242200-104243000	Enhancers	Ovary	ovary
40	chr8:104242400-104242600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:104242400-104242800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:104242400-104242800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:104242400-104243000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:104242400-104243000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:104242400-104243000	Enhancers	Osteobl	bone
46	chr8:104242400-104243200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr8:104242400-104243200	Weak transcription	Adipose Nuclei	Adipose
48	chr8:104242400-104243400	Weak transcription	Brain Substantia Nigra	brain
49	chr8:104242400-104251200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:104242400-104251200	Weak transcription	HMEC	breast

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