Variant report

Variant	rs4115670
Chromosome Location	chr8:104312715-104312716
allele	A/G
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	GATA3	chr8:104311800-104312770	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr8:104311832-104312789	SK-N-SH	brain:	n/a	n/a
3	STAT3	chr8:104312627-104313328	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr8:104309707-104313471	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr8:104312219-104313349	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:104311011..104313390-chr8:104387809..104389665,2	MCF-7	breast:
2	chr8:104310872..104313669-chr8:104425556..104428778,5	MCF-7	breast:
3	chr8:104309661..104313454-chr8:104382208..104385836,8	MCF-7	breast:
4	chr3:101567790..101569895-chr8:104310812..104313002,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247081	TF binding region
ENSG00000164933	Chromatin interaction
ENSG00000164932	Chromatin interaction
ENSG00000144802	Chromatin interaction
ENSG00000164934	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1004468	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10505042	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1053917	0.85[EUR][1000 genomes]
rs10808383	0.84[EUR][1000 genomes]
rs1095714	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11781252	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11987172	0.83[EUR][1000 genomes]
rs12164188	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12546491	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12550097	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1370008	0.83[EUR][1000 genomes]
rs1370009	0.83[EUR][1000 genomes]
rs1522708	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1522710	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1522711	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1522712	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1522713	0.96[ASN][1000 genomes]
rs16870346	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1851483	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2010308	0.85[EUR][1000 genomes]
rs2131860	0.96[ASN][1000 genomes]
rs2272097	0.83[EUR][1000 genomes]
rs2388532	0.85[EUR][1000 genomes]
rs2642363	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2642364	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2642366	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2642368	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28392906	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35019987	0.83[EUR][1000 genomes]
rs35935697	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3736047	0.89[EUR][1000 genomes]
rs3808553	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3808554	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3808556	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3808559	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4734698	0.83[EUR][1000 genomes]
rs62525498	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62525511	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7012843	0.85[EUR][1000 genomes]
rs827547	0.94[ASN][1000 genomes]
rs827585	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv1023181	chr8:104298542-104366365	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104308600-104313800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:104310000-104313400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:104310000-104313800	Active TSS	Aorta	Aorta
4	chr8:104310200-104312800	Active TSS	Stomach Smooth Muscle	stomach
5	chr8:104310400-104313000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:104310400-104313400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr8:104310600-104313200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:104310800-104313000	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr8:104311400-104313400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:104311400-104313600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:104311600-104313200	Flanking Active TSS	HUVEC	blood vessel
12	chr8:104311600-104343600	Weak transcription	Spleen	Spleen
13	chr8:104311800-104313400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:104311800-104313600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:104311800-104320000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:104311800-104320200	Weak transcription	Placenta	Placenta
17	chr8:104311800-104320200	Weak transcription	HSMM	muscle
18	chr8:104311800-104321200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:104311800-104327800	Weak transcription	Pancreas	Pancrea
20	chr8:104311800-104331200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:104311800-104331400	Weak transcription	Liver	Liver
22	chr8:104311800-104331400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:104311800-104343600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:104312000-104313000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr8:104312000-104313400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr8:104312000-104316400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:104312000-104326600	Weak transcription	Gastric	stomach
28	chr8:104312000-104337200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr8:104312000-104337200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr8:104312000-104343800	Weak transcription	Small Intestine	intestine
31	chr8:104312000-104348400	Weak transcription	Thymus	Thymus
32	chr8:104312000-104350200	Weak transcription	Esophagus	oesophagus
33	chr8:104312200-104312800	Enhancers	Primary hematopoietic stem cells	blood
34	chr8:104312200-104312800	Flanking Active TSS	HMEC	breast
35	chr8:104312200-104313000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr8:104312200-104313200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:104312200-104313200	Active TSS	GM12878-XiMat	blood
38	chr8:104312200-104317600	Weak transcription	Fetal Intestine Large	intestine
39	chr8:104312200-104320000	Weak transcription	Left Ventricle	heart
40	chr8:104312200-104320600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:104312200-104337200	Weak transcription	Brain Anterior Caudate	brain
42	chr8:104312200-104337800	Weak transcription	Primary T cells from cord blood	blood
43	chr8:104312200-104339000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr8:104312400-104312800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:104312400-104312800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:104312400-104312800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:104312400-104312800	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr8:104312400-104313000	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr8:104312400-104313200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:104312400-104313200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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