Variant report

Variant	rs16900614
Chromosome Location	chr8:126476697-126476698
allele	C/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	MYC	chr8:126476348-126476719	MCF10A-Er-Src	breast:	n/a	chr8:126476539-126476550
2	TFAP2A	chr8:126476112-126476726	Hela-S3	cervix:	n/a	chr8:126476451-126476465 chr8:126476453-126476465 chr8:126476451-126476466
3	TFAP2C	chr8:126476070-126476734	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:126476379..126479143-chr8:126667265..126669380,2	MCF-7	breast:
2	chr8:126442745..126445381-chr8:126476232..126477978,2	MCF-7	breast:
3	chr8:126464119..126465895-chr8:126475032..126477727,2	MCF-7	breast:
4	chr8:126465262..126466889-chr8:126476635..126478328,2	MCF-7	breast:
5	chr8:126472290..126473943-chr8:126475663..126477931,2	MCF-7	breast:
6	chr8:126459529..126461149-chr8:126475843..126477879,2	K562	blood:

Variant related genes	Relation type
ENSG00000253111	TF binding region
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13259326	1.00[MEX][hapmap]
rs16900615	0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55882275	1.00[ASN][1000 genomes]
rs55987622	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57863956	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61002144	1.00[ASN][1000 genomes]
rs61660593	1.00[ASN][1000 genomes]
rs6982940	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6987604	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987644	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003006	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7008015	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126464800-126478000	Weak transcription	Gastric	stomach
2	chr8:126465200-126477800	Weak transcription	Fetal Heart	heart
3	chr8:126472400-126479000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:126475400-126477600	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:126475400-126479200	Weak transcription	A549	lung
6	chr8:126475600-126477000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr8:126475600-126477400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:126475600-126477800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr8:126475600-126478000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr8:126475600-126478200	Weak transcription	HepG2	liver
11	chr8:126475600-126478800	Weak transcription	K562	blood
12	chr8:126475800-126479600	Enhancers	Placenta	Placenta
13	chr8:126476000-126476800	Enhancers	HSMM	muscle
14	chr8:126476000-126476800	Enhancers	HSMMtube	muscle
15	chr8:126476000-126476800	Enhancers	NHEK	skin
16	chr8:126476200-126476800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:126476200-126476800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr8:126476400-126478800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr8:126476400-126479000	Weak transcription	Right Ventricle	heart
20	chr8:126476600-126477600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:126476600-126477600	Weak transcription	Fetal Lung	lung
22	chr8:126476600-126477600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:126476600-126477600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:126476600-126478000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:126476600-126478800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:126476600-126478800	Enhancers	Hela-S3	cervix
27	chr8:126476600-126479000	Weak transcription	Liver	Liver
28	chr8:126476600-126483000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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