Variant report

Variant	rs72664827
Chromosome Location	chr8:99248215-99248216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12547555	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12549134	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2122929	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3735884	0.86[EUR][1000 genomes]
rs55772672	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55975205	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56215918	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522239	0.80[EUR][1000 genomes]
rs62522241	0.93[EUR][1000 genomes]
rs62522242	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62522245	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62522247	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62522248	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62522249	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62524189	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985720	0.91[EUR][1000 genomes]
rs7005911	0.91[EUR][1000 genomes]
rs7016814	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831405	chr8:99095239-99260934	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv6326	chr8:99221674-99263687	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99203800-99252600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr8:99205200-99259600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:99218400-99259000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr8:99226000-99248400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:99226200-99248400	Weak transcription	HSMMtube	muscle
6	chr8:99226200-99267000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:99229400-99267000	Weak transcription	Left Ventricle	heart
8	chr8:99235400-99268400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:99236000-99248400	Weak transcription	HMEC	breast
10	chr8:99237800-99248400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:99239400-99268600	Weak transcription	Aorta	Aorta
12	chr8:99239800-99252600	Weak transcription	Esophagus	oesophagus
13	chr8:99240400-99259400	Weak transcription	Fetal Intestine Large	intestine
14	chr8:99240400-99259400	Weak transcription	Pancreas	Pancrea
15	chr8:99240400-99264400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:99240400-99266200	Weak transcription	Fetal Stomach	stomach
17	chr8:99240600-99250800	Weak transcription	Adipose Nuclei	Adipose
18	chr8:99240600-99267000	Weak transcription	Gastric	stomach
19	chr8:99240600-99294200	Weak transcription	Ovary	ovary
20	chr8:99240800-99252400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:99240800-99259200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:99241000-99259200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:99241000-99259200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:99241000-99269400	Weak transcription	Fetal Intestine Small	intestine
25	chr8:99242800-99255200	Weak transcription	HSMM	muscle
26	chr8:99243600-99248600	Weak transcription	Fetal Lung	lung
27	chr8:99243800-99252400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:99244000-99259400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:99244600-99248400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:99245800-99250000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr8:99246200-99249400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:99247400-99248400	Weak transcription	Osteobl	bone
33	chr8:99248000-99249400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:99248200-99248800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:99248200-99249000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:99248200-99249200	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr8:99248200-99249400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:99248200-99249400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr8:99248200-99250400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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