Variant report

Variant	rs1374298
Chromosome Location	chr8:117884571-117884572
allele	G/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	MYC	chr8:117884563-117884763	MCF10A-Er-Src	breast:	n/a	n/a
2	EBF1	chr8:117884554-117884754	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:117884534-117887510	Hela-S3	cervix:	n/a	n/a
4	NFYB	chr8:117884551-117884673	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:117882604-117887373	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117777450..117780279-chr8:117883824..117887176,3	MCF-7	breast:
2	chr8:117777051..117780452-chr8:117884154..117888588,6	K562	blood:

Variant related genes	Relation type
RAD21-AS1	TF binding region
ENSG00000147679	Chromatin interaction
ENSG00000147677	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11786746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1374297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16889105	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17811924	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4298513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4424294	0.98[ASN][1000 genomes]
rs57077968	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv891407	chr8:117881393-117895239	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv891408	chr8:117884270-117895239	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117860400-117885800	Weak transcription	Esophagus	oesophagus
2	chr8:117864400-117885800	Weak transcription	Gastric	stomach
3	chr8:117865200-117885800	Weak transcription	Pancreas	Pancrea
4	chr8:117865600-117885800	Weak transcription	Spleen	Spleen
5	chr8:117867000-117885200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:117867000-117885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:117870200-117884800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:117876000-117884600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:117877400-117885000	Enhancers	Fetal Heart	heart
10	chr8:117877800-117884600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:117878400-117884600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:117878400-117884800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:117878600-117884800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:117878800-117885800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:117879000-117884600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr8:117879000-117884600	Weak transcription	Brain Substantia Nigra	brain
17	chr8:117879600-117884600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr8:117879600-117885000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr8:117879800-117884600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:117880000-117884800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr8:117880200-117884800	Weak transcription	Brain Angular Gyrus	brain
22	chr8:117881200-117884600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:117881200-117884800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:117881200-117887800	Active TSS	GM12878-XiMat	blood
25	chr8:117881600-117884800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:117881600-117885200	Enhancers	Colon Smooth Muscle	Colon
27	chr8:117881600-117885200	Enhancers	Small Intestine	intestine
28	chr8:117881800-117884600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr8:117881800-117884800	Enhancers	Adipose Nuclei	Adipose
30	chr8:117881800-117884800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:117881800-117885600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:117881800-117885800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:117882200-117884800	Enhancers	Primary hematopoietic stem cells	blood
34	chr8:117882200-117885000	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr8:117882400-117884600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr8:117882400-117885200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:117882400-117885600	Enhancers	Primary B cells from peripheral blood	blood
38	chr8:117882600-117884600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:117882600-117884800	Enhancers	Fetal Lung	lung
40	chr8:117882600-117884800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr8:117882600-117885800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:117882800-117884600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr8:117882800-117884600	Enhancers	Liver	Liver
44	chr8:117882800-117885400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr8:117882800-117885600	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr8:117883000-117884600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:117883000-117884600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr8:117883000-117884600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:117883000-117884600	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr8:117883000-117884600	Enhancers	NHLF	lung

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