Variant report

Variant	rs10107209
Chromosome Location	chr8:117883688-117883689
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	CUX1	chr8:117883641-117884075	GM12878	blood:	n/a	n/a
2	MXI1	chr8:117883639-117883839	GM12878	blood:	n/a	n/a
3	ZNF384	chr8:117883527-117883754	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:117882604-117887373	K562	blood:	n/a	n/a
5	RUNX3	chr8:117883623-117884029	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117882042..117883991-chr8:117888629..117890364,2	K562	blood:

Variant related genes	Relation type
RAD21	TF binding region
RAD21-AS1	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10094918	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10110234	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13276470	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1348796	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1348799	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888879	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16888927	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888997	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16889014	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16889040	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17426067	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28646042	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28705030	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28877615	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34000422	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987652	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117859600-117883800	Weak transcription	Stomach Mucosa	stomach
2	chr8:117860400-117885800	Weak transcription	Esophagus	oesophagus
3	chr8:117864400-117885800	Weak transcription	Gastric	stomach
4	chr8:117864800-117884000	Weak transcription	Right Ventricle	heart
5	chr8:117865200-117885800	Weak transcription	Pancreas	Pancrea
6	chr8:117865600-117885800	Weak transcription	Spleen	Spleen
7	chr8:117867000-117885200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:117867000-117885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:117870000-117884400	Weak transcription	Colonic Mucosa	Colon
10	chr8:117870200-117884800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:117872600-117884400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:117876000-117884600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:117877200-117884000	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr8:117877400-117885000	Enhancers	Fetal Heart	heart
15	chr8:117877800-117884400	Weak transcription	Fetal Intestine Small	intestine
16	chr8:117877800-117884600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:117878200-117884400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:117878400-117884200	Weak transcription	Fetal Stomach	stomach
19	chr8:117878400-117884600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr8:117878400-117884800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:117878600-117884000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:117878600-117884800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:117878800-117885800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:117879000-117884400	Enhancers	A549	lung
25	chr8:117879000-117884600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr8:117879000-117884600	Weak transcription	Brain Substantia Nigra	brain
27	chr8:117879600-117884600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr8:117879600-117885000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr8:117879800-117884000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:117879800-117884600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr8:117880000-117884000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr8:117880000-117884800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr8:117880200-117884200	Weak transcription	Brain Anterior Caudate	brain
34	chr8:117880200-117884800	Weak transcription	Brain Angular Gyrus	brain
35	chr8:117880600-117884200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr8:117880600-117884200	Weak transcription	Aorta	Aorta
37	chr8:117880800-117883800	Enhancers	HSMM	muscle
38	chr8:117880800-117884400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr8:117881000-117884400	Enhancers	Thymus	Thymus
40	chr8:117881200-117884400	Enhancers	HepG2	liver
41	chr8:117881200-117884600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:117881200-117884800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:117881200-117887800	Active TSS	GM12878-XiMat	blood
44	chr8:117881400-117884000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:117881400-117884200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:117881400-117884400	Enhancers	HMEC	breast
47	chr8:117881400-117884400	Enhancers	NHDF-Ad	bronchial
48	chr8:117881400-117884400	Enhancers	NHEK	skin
49	chr8:117881600-117884000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:117881600-117884400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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