Variant report

Variant	rs7998651
Chromosome Location	chr13:75948155-75948156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:75945808..75948448-chr13:76055633..76058257,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136111	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1325466	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1408930	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1821127	0.95[ASN][1000 genomes]
rs2104418	0.93[EUR][1000 genomes]
rs2328940	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3825441	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4885286	0.96[EUR][1000 genomes]
rs5021641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap]
rs6562886	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6562887	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7321494	0.82[CHB][hapmap]
rs7330729	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7983831	0.97[EUR][1000 genomes]
rs7991823	0.95[ASN][1000 genomes]
rs7992747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9565154	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9565157	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9573529	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9573531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9573532	0.97[ASN][1000 genomes]
rs9573533	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498067	chr13:75178898-76012362	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:75942000-75949600	Enhancers	Fetal Thymus	thymus
2	chr13:75942600-75952400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr13:75942800-75949000	Weak transcription	GM12878-XiMat	blood
4	chr13:75945600-75955600	Weak transcription	Right Ventricle	heart
5	chr13:75946400-75948400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr13:75946800-75948600	Enhancers	Liver	Liver
7	chr13:75947000-75948600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr13:75947000-75949400	Enhancers	Ovary	ovary
9	chr13:75947200-75948400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:75947200-75952000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr13:75947600-75948400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr13:75947600-75948400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:75947600-75948400	Enhancers	Left Ventricle	heart
14	chr13:75947600-75948400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr13:75947600-75949400	Enhancers	Psoas Muscle	Psoas
16	chr13:75947800-75948200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:75947800-75948200	Enhancers	Adipose Nuclei	Adipose
18	chr13:75947800-75948400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr13:75947800-75950400	Enhancers	Fetal Heart	heart
20	chr13:75947800-75951000	Enhancers	HepG2	liver
21	chr13:75948000-75949000	Weak transcription	Right Atrium	heart
22	chr13:75948000-75949400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr13:75948000-75949800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:75948000-75950000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr13:75948000-75950200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr13:75948000-75952200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr13:75948000-75952200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr13:75948000-75953600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:75948000-75955800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr13:75948000-75958400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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