Variant report

Variant	rs10094916
Chromosome Location	chr8:125585345-125585346
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:125585227-125585622	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr8:125585242-125585587	H1-neurons	neurons:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125577041..125579836-chr8:125582630..125585681,3	K562	blood:
2	chr8:125583606..125586217-chr8:125589434..125592977,3	K562	blood:
3	chr8:125549863..125553007-chr8:125584372..125586480,3	MCF-7	breast:
4	chr8:125581856..125584794-chr8:125585342..125589064,3	K562	blood:
5	chr8:125571310..125574209-chr8:125585133..125590105,4	MCF-7	breast:
6	chr8:125575386..125578352-chr8:125584733..125586446,2	MCF-7	breast:
7	chr8:125581043..125582547-chr8:125585061..125587480,2	MCF-7	breast:

No data

Variant related genes	Relation type
MTSS1	TF binding region
ENSG00000147684	Chromatin interaction
ENSG00000272486	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000147687	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10099056	1.00[CEU][hapmap];0.89[JPT][hapmap];0.95[EUR][1000 genomes]
rs10103773	1.00[CEU][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10110655	1.00[CEU][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11778396	1.00[YRI][hapmap]
rs11783209	1.00[CEU][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12546733	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs13255599	0.93[CEU][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13256399	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16899688	0.88[CEU][hapmap];0.83[JPT][hapmap];0.91[YRI][hapmap]
rs17371123	0.89[JPT][hapmap]
rs2303955	1.00[CEU][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3750232	0.83[JPT][hapmap]
rs3763541	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3763542	1.00[CEU][hapmap];0.89[JPT][hapmap];0.95[EUR][1000 genomes]
rs3763543	0.90[JPT][hapmap]
rs3763544	0.88[JPT][hapmap]
rs3829035	0.90[JPT][hapmap];0.86[YRI][hapmap]
rs4489311	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6415485	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6470253	1.00[CEU][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6470254	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6997175	0.90[JPT][hapmap]
rs6997184	0.84[JPT][hapmap]
rs6998600	0.96[EUR][1000 genomes]
rs7010757	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs7015228	1.00[CEU][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7015374	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7821954	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7835397	0.83[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap]
rs7841224	0.88[CEU][hapmap]
rs7846270	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv525649	chr8:125565328-125600818	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1024804	chr8:125575803-125600950	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1025014	chr8:125578314-125600950	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv275001	chr8:125584475-125593594	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125566000-125602400	Weak transcription	Aorta	Aorta
2	chr8:125566200-125590400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:125566400-125600600	Weak transcription	NHEK	skin
4	chr8:125567000-125590200	Weak transcription	Fetal Brain Male	brain
5	chr8:125570800-125605000	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:125574400-125609400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:125574800-125590200	Weak transcription	HMEC	breast
8	chr8:125575400-125589200	Weak transcription	Esophagus	oesophagus
9	chr8:125575600-125600600	Weak transcription	Fetal Kidney	kidney
10	chr8:125575800-125589200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:125576600-125591400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:125576800-125590200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:125576800-125598200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:125577200-125591400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:125577400-125586600	Weak transcription	Brain Angular Gyrus	brain
16	chr8:125577400-125589800	Weak transcription	NHLF	lung
17	chr8:125577600-125586600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:125577600-125591600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:125577800-125589600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:125577800-125590000	Weak transcription	Osteobl	bone
21	chr8:125578000-125585400	Weak transcription	Right Atrium	heart
22	chr8:125578000-125585400	Weak transcription	Thymus	Thymus
23	chr8:125578000-125586600	Weak transcription	NHDF-Ad	bronchial
24	chr8:125578000-125598600	Weak transcription	Gastric	stomach
25	chr8:125578200-125586600	Weak transcription	Fetal Thymus	thymus
26	chr8:125578200-125598000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:125579000-125591400	Weak transcription	HUVEC	blood vessel
28	chr8:125579200-125586400	Weak transcription	Fetal Heart	heart
29	chr8:125579200-125590200	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:125579400-125586200	Weak transcription	Fetal Lung	lung
31	chr8:125579400-125589800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr8:125579400-125601600	Weak transcription	Brain Anterior Caudate	brain
33	chr8:125579600-125585600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:125579800-125586800	Weak transcription	Placenta	Placenta
35	chr8:125580000-125586800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:125580000-125586800	Weak transcription	Brain Substantia Nigra	brain
37	chr8:125580400-125588400	Weak transcription	HSMMtube	muscle
38	chr8:125580600-125585400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:125580600-125585400	Weak transcription	Adipose Nuclei	Adipose
40	chr8:125580600-125586600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:125580600-125586600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr8:125580600-125586600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr8:125580600-125588600	Weak transcription	Spleen	Spleen
44	chr8:125580600-125590200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:125580600-125590400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr8:125580800-125586000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:125580800-125588800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:125580800-125590600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr8:125581000-125586400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:125581200-125585400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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