Variant report

Variant	rs73277822
Chromosome Location	chr8:99757728-99757729
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs4585723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55878650	0.83[AFR][1000 genomes]
rs58076033	1.00[AMR][1000 genomes]
rs58433985	1.00[AMR][1000 genomes]
rs58733089	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60588461	1.00[AMR][1000 genomes]
rs6982060	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6991345	0.94[AFR][1000 genomes]
rs6993159	1.00[AMR][1000 genomes]
rs6999016	1.00[AMR][1000 genomes]
rs73275840	1.00[AMR][1000 genomes]
rs73275849	1.00[AMR][1000 genomes]
rs73275851	1.00[AMR][1000 genomes]
rs73275859	1.00[AMR][1000 genomes]
rs73275862	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275865	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275872	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275874	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275881	1.00[AMR][1000 genomes]
rs73275887	1.00[AMR][1000 genomes]
rs73275890	1.00[AMR][1000 genomes]
rs73275899	1.00[AMR][1000 genomes]
rs73277804	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277806	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277807	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277809	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277812	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277859	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277866	1.00[AMR][1000 genomes]
rs73277869	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277870	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277872	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277876	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277884	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277895	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277897	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279716	1.00[AMR][1000 genomes]
rs73279717	1.00[AMR][1000 genomes]
rs73279718	1.00[AMR][1000 genomes]
rs73279721	1.00[AMR][1000 genomes]
rs73279722	1.00[AMR][1000 genomes]
rs73279723	1.00[AMR][1000 genomes]
rs73279736	1.00[AMR][1000 genomes]
rs73279739	1.00[AMR][1000 genomes]
rs73279749	1.00[AMR][1000 genomes]
rs73279752	1.00[AMR][1000 genomes]
rs73279757	1.00[AMR][1000 genomes]
rs73279767	1.00[AMR][1000 genomes]
rs7818030	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7826107	1.00[AMR][1000 genomes]
rs7829755	1.00[AMR][1000 genomes]
rs7841627	1.00[AMR][1000 genomes]
rs7842701	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1025685	chr8:99706280-99826236	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv539691	chr8:99706280-99826236	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99738400-99758000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:99739600-99776400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:99739800-99757800	Weak transcription	NHEK	skin
4	chr8:99739800-99758000	Weak transcription	Ovary	ovary
5	chr8:99741600-99794200	Weak transcription	Pancreas	Pancrea
6	chr8:99743200-99763400	Weak transcription	Right Ventricle	heart
7	chr8:99743400-99777200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:99746600-99789400	Weak transcription	Psoas Muscle	Psoas
9	chr8:99747600-99758000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:99747800-99763000	Weak transcription	Osteobl	bone
11	chr8:99748000-99758000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:99748000-99759000	Weak transcription	NHDF-Ad	bronchial
13	chr8:99748600-99777200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:99751000-99760800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:99754200-99761600	Weak transcription	HSMMtube	muscle
16	chr8:99754200-99777600	Weak transcription	Left Ventricle	heart
17	chr8:99755400-99757800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:99755400-99757800	Weak transcription	HSMM	muscle
19	chr8:99755800-99758000	Weak transcription	NH-A	brain
20	chr8:99756000-99758200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:99756200-99758600	Weak transcription	Aorta	Aorta
22	chr8:99756200-99776800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:99756400-99758600	Weak transcription	Fetal Intestine Large	intestine
24	chr8:99756600-99758600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:99756600-99758600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr8:99756600-99777200	Weak transcription	HMEC	breast
27	chr8:99756800-99757800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:99756800-99760600	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:99756800-99776400	Weak transcription	Placenta	Placenta
30	chr8:99757000-99758800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:99757000-99759200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr8:99757000-99760000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:99757000-99760600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:99757000-99761600	Weak transcription	HUVEC	blood vessel
35	chr8:99757200-99758000	Strong transcription	A549	lung
36	chr8:99757200-99759200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr8:99757200-99759200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:99757200-99759200	Strong transcription	Liver	Liver
39	chr8:99757200-99759400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr8:99757200-99759400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:99757200-99760200	ZNF genes & repeats	Dnd41	blood
42	chr8:99757400-99757800	Weak transcription	Fetal Kidney	kidney
43	chr8:99757400-99758000	Weak transcription	Adipose Nuclei	Adipose
44	chr8:99757400-99759200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr8:99757400-99759400	ZNF genes & repeats	Fetal Muscle Leg	muscle
46	chr8:99757400-99763200	Weak transcription	K562	blood
47	chr8:99757400-99777600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr8:99757400-99777800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:99757400-99777800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr8:99757400-99778600	Weak transcription	Placenta Amnion	Placenta Amnion

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