Variant report

Variant	rs7011034
Chromosome Location	chr8:131460254-131460255
allele	A/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	POLR2A	chr8:131460170-131460292	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131455101..131457413-chr8:131457483..131461647,5	MCF-7	breast:

Variant related genes	Relation type
ASAP1	TF binding region
ENSG00000153317	Chromatin interaction

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

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

rs_ID	r²[population]
rs11775398	0.90[CEU][hapmap];0.91[EUR][1000 genomes]
rs11778368	0.82[EUR][1000 genomes]
rs4301463	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs61548798	0.91[EUR][1000 genomes]
rs6981708	0.82[EUR][1000 genomes]
rs6997802	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs72726214	0.91[ASN][1000 genomes]
rs72726234	0.82[EUR][1000 genomes]
rs72726236	0.82[EUR][1000 genomes]
rs7461213	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7461215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834677	0.84[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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131456400-131460600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:131456400-131460600	Weak transcription	Ovary	ovary
3	chr8:131456600-131460400	Weak transcription	Placenta	Placenta
4	chr8:131456600-131462200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:131457200-131460600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:131457400-131460800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:131457600-131460400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:131457600-131460600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:131457800-131460400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:131457800-131460400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:131457800-131460600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:131457800-131460600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:131457800-131460800	Weak transcription	Right Atrium	heart
14	chr8:131457800-131460800	Weak transcription	NHLF	lung
15	chr8:131458000-131460600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:131458000-131461800	Weak transcription	Spleen	Spleen
17	chr8:131458000-131463000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:131458000-131464600	Weak transcription	Adipose Nuclei	Adipose
19	chr8:131458200-131465600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:131458400-131462200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:131458600-131463200	Weak transcription	HUVEC	blood vessel
22	chr8:131459000-131461000	Weak transcription	NHDF-Ad	bronchial
23	chr8:131459000-131464200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:131459000-131468800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:131459200-131460400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr8:131459200-131465600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:131459200-131468200	Weak transcription	Fetal Heart	heart
28	chr8:131459400-131460600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:131459600-131460800	Weak transcription	HMEC	breast
30	chr8:131459600-131461200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:131459800-131460800	Enhancers	NH-A	brain
32	chr8:131459800-131461000	Enhancers	H9 Cell Line	embryonic stem cell
33	chr8:131460000-131461600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr8:131460200-131461000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:131460200-131461000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:131460200-131461400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr8:131460200-131461800	Enhancers	Osteobl	bone
38	chr8:131460200-131462000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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