Variant report

Variant	rs13248540
Chromosome Location	chr8:99686984-99686985
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99685854..99689174-chr8:99689851..99693492,4	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12681956	1.00[LWK][hapmap]
rs13275130	1.00[AMR][1000 genomes]
rs34072950	1.00[AMR][1000 genomes]
rs35867283	1.00[AMR][1000 genomes]
rs7464632	1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv891220	chr8:99681858-99867419	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99676200-99738200	Weak transcription	Fetal Kidney	kidney
2	chr8:99676400-99700000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:99680600-99689800	Weak transcription	NH-A	brain
4	chr8:99680600-99692400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:99681200-99692400	Weak transcription	NHDF-Ad	bronchial
6	chr8:99683200-99689200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:99683200-99699200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:99683400-99687400	Weak transcription	Lung	lung
9	chr8:99683400-99699400	Weak transcription	Aorta	Aorta
10	chr8:99683400-99699400	Weak transcription	Placenta	Placenta
11	chr8:99683400-99699400	Weak transcription	Left Ventricle	heart
12	chr8:99683400-99699400	Weak transcription	Pancreas	Pancrea
13	chr8:99683400-99699600	Weak transcription	Fetal Stomach	stomach
14	chr8:99683400-99701600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:99683400-99712600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:99683600-99712200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:99683600-99720400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:99683600-99738000	Weak transcription	NHEK	skin
19	chr8:99684000-99687200	Weak transcription	Fetal Lung	lung
20	chr8:99684000-99698800	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:99684000-99699400	Weak transcription	Fetal Intestine Large	intestine
22	chr8:99684000-99699400	Weak transcription	Fetal Intestine Small	intestine
23	chr8:99684200-99696800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:99684400-99688200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:99684400-99694000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:99684400-99699400	Weak transcription	Ovary	ovary
27	chr8:99684400-99704000	Weak transcription	Liver	Liver
28	chr8:99684400-99712600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:99684600-99694000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr8:99686000-99687600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr8:99686200-99687800	Enhancers	A549	lung
32	chr8:99686600-99687200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:99686800-99687000	Enhancers	NHLF	lung
34	chr8:99686800-99687400	Flanking Active TSS	HUVEC	blood vessel

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