Variant report

Variant	rs72666675
Chromosome Location	chr8:99676677-99676678
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs56227802	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60727708	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99636200-99682400	Weak transcription	Fetal Stomach	stomach
2	chr8:99652600-99680600	Weak transcription	NHEK	skin
3	chr8:99663400-99682800	Weak transcription	Placenta	Placenta
4	chr8:99668000-99683000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:99668800-99681800	Weak transcription	Ovary	ovary
6	chr8:99671000-99680400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:99671000-99681800	Weak transcription	Liver	Liver
8	chr8:99671000-99682200	Weak transcription	Fetal Intestine Small	intestine
9	chr8:99671200-99680000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:99671400-99682000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:99671400-99682800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:99671600-99682000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:99671800-99682200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:99672000-99680000	Weak transcription	NHDF-Ad	bronchial
15	chr8:99672200-99682000	Weak transcription	Fetal Lung	lung
16	chr8:99672200-99682600	Weak transcription	NHLF	lung
17	chr8:99672400-99679600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:99673200-99682800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:99673800-99686400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:99674400-99682800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr8:99674600-99682800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:99675000-99681800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:99675000-99682600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:99676000-99677000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:99676000-99677200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:99676000-99679800	Weak transcription	Right Ventricle	heart
27	chr8:99676000-99682800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr8:99676200-99738200	Weak transcription	Fetal Kidney	kidney
29	chr8:99676400-99700000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:99676600-99682400	Weak transcription	Aorta	Aorta
31	chr8:99676600-99682800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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