Variant report

Variant	rs16899708
Chromosome Location	chr8:125577470-125577471
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	MAZ	chr8:125577432-125577676	K562	blood:	n/a	n/a
2	GATA2	chr8:125576673-125577471	HUVEC	blood vessel:	n/a	chr8:125576970-125576977 chr8:125576970-125576977 chr8:125576965-125576981 chr8:125576967-125576981 chr8:125576968-125576978 chr8:125577159-125577169 chr8:125577263-125577273 chr8:125576970-125576977 chr8:125576963-125576984

No.	Distal block	Cell Line	Cell type
1	chr8:125549460..125555106-chr8:125573452..125578755,9	MCF-7	breast:
2	chr8:125548205..125551096-chr8:125575812..125578141,2	MCF-7	breast:
3	chr8:125572673..125575871-chr8:125577015..125582400,6	K562	blood:
4	chr8:125486165..125488789-chr8:125574025..125577553,3	MCF-7	breast:
5	chr8:125577321..125579071-chr8:125580874..125582837,2	MCF-7	breast:
6	chr8:125576007..125577952-chr8:125590257..125591907,2	MCF-7	breast:
7	chr8:125572972..125577628-chr8:125578200..125582090,6	MCF-7	breast:
8	chr8:125577012..125578605-chr8:125580687..125582553,2	K562	blood:
9	chr8:125574370..125578079-chr8:125630160..125632086,3	MCF-7	breast:

Variant related genes	Relation type
MTSS1	TF binding region
ENSG00000147687	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000272486	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000147684	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10046739	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10107762	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13251109	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13258027	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13261695	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16899748	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34263543	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3829033	0.81[CEU][hapmap]
rs3857946	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs4007921	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59807139	0.81[AFR][1000 genomes]
rs67077163	0.97[EUR][1000 genomes];0.94[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	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

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125553800-125581200	Strong transcription	Fetal Brain Female	brain
2	chr8:125566000-125602400	Weak transcription	Aorta	Aorta
3	chr8:125566200-125590400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:125566400-125577600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:125566400-125577800	Weak transcription	Small Intestine	intestine
6	chr8:125566400-125600600	Weak transcription	NHEK	skin
7	chr8:125566800-125581400	Weak transcription	HSMM	muscle
8	chr8:125567000-125590200	Weak transcription	Fetal Brain Male	brain
9	chr8:125570000-125584800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:125570800-125605000	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:125571800-125581200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:125574400-125609400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:125574800-125580600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:125574800-125581000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:125574800-125590200	Weak transcription	HMEC	breast
16	chr8:125575200-125578000	Genic enhancers	Fetal Muscle Leg	muscle
17	chr8:125575200-125578200	Enhancers	Lung	lung
18	chr8:125575200-125578800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:125575400-125589200	Weak transcription	Esophagus	oesophagus
20	chr8:125575600-125577600	Enhancers	Duodenum Mucosa	Duodenum
21	chr8:125575600-125577600	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr8:125575600-125577800	Enhancers	Adipose Nuclei	Adipose
23	chr8:125575600-125577800	Enhancers	Stomach Mucosa	stomach
24	chr8:125575600-125578400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:125575600-125600600	Weak transcription	Fetal Kidney	kidney
26	chr8:125575800-125577600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr8:125575800-125577600	Enhancers	Brain Substantia Nigra	brain
28	chr8:125575800-125577600	Flanking Active TSS	Dnd41	blood
29	chr8:125575800-125577800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:125575800-125578000	Enhancers	NHDF-Ad	bronchial
31	chr8:125575800-125578600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:125575800-125578600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:125575800-125581000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:125575800-125589200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:125576000-125578400	Weak transcription	HSMMtube	muscle
36	chr8:125576000-125578800	Weak transcription	Brain Anterior Caudate	brain
37	chr8:125576200-125577600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:125576200-125577600	Weak transcription	Fetal Intestine Large	intestine
39	chr8:125576200-125578400	Weak transcription	Colonic Mucosa	Colon
40	chr8:125576200-125578800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:125576400-125577600	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr8:125576400-125578600	Weak transcription	Placenta	Placenta
43	chr8:125576400-125578800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr8:125576400-125583200	Weak transcription	Pancreas	Pancrea
45	chr8:125576600-125577600	Strong transcription	HepG2	liver
46	chr8:125576600-125578800	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:125576600-125579200	Genic enhancers	Liver	Liver
48	chr8:125576600-125583600	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:125576600-125591400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr8:125576800-125577800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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