Variant report

Variant	rs6805288
Chromosome Location	chr3:61592316-61592317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs4390920	1.00[AMR][1000 genomes]
rs56696131	1.00[AMR][1000 genomes]
rs57796687	1.00[AMR][1000 genomes]
rs57943064	1.00[AMR][1000 genomes]
rs57953857	1.00[AMR][1000 genomes]
rs58814661	1.00[AMR][1000 genomes]
rs60197600	1.00[AMR][1000 genomes]
rs60197976	1.00[AMR][1000 genomes]
rs60473152	1.00[AMR][1000 genomes]
rs6801604	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72874738	1.00[AMR][1000 genomes]
rs72874741	1.00[AMR][1000 genomes]
rs72874744	1.00[AMR][1000 genomes]
rs72874746	1.00[AMR][1000 genomes]
rs72874749	1.00[AMR][1000 genomes]
rs72874755	1.00[AMR][1000 genomes]
rs72888670	1.00[AMR][1000 genomes]
rs72888675	1.00[AMR][1000 genomes]
rs72888676	1.00[AMR][1000 genomes]
rs72888678	1.00[AMR][1000 genomes]
rs7640772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9878929	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	nsv432423	chr3:61100255-61606060	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv834711	chr3:61413762-61612539	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1008615	chr3:61455419-61679037	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	esv2756995	chr3:61569557-61636156	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	esv2759153	chr3:61569557-61636156	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	esv35004	chr3:61570149-61626426	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv822106	chr3:61577755-61631078	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61564600-61593400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:61569600-61594400	Weak transcription	Pancreas	Pancrea
3	chr3:61580400-61597800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:61580600-61594000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:61581000-61609000	Weak transcription	NHEK	skin
6	chr3:61581400-61612200	Weak transcription	NHLF	lung
7	chr3:61581400-61613400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:61581800-61592600	Weak transcription	Liver	Liver
9	chr3:61581800-61597800	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:61582000-61599400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:61583800-61598000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:61584400-61597600	Weak transcription	Adipose Nuclei	Adipose
13	chr3:61584400-61602200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:61584600-61598000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr3:61584600-61598200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr3:61584600-61602200	Weak transcription	Ovary	ovary
17	chr3:61586400-61614200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:61586600-61602200	Weak transcription	Fetal Intestine Large	intestine
19	chr3:61587000-61611400	Weak transcription	HepG2	liver
20	chr3:61587600-61594000	Weak transcription	Brain Angular Gyrus	brain
21	chr3:61587800-61602600	Weak transcription	HSMMtube	muscle
22	chr3:61587800-61602800	Weak transcription	Gastric	stomach
23	chr3:61588200-61597800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:61588200-61597800	Weak transcription	Psoas Muscle	Psoas
25	chr3:61588400-61593400	Weak transcription	Right Ventricle	heart
26	chr3:61589000-61593000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr3:61589000-61594000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:61589000-61598000	Weak transcription	Fetal Heart	heart
29	chr3:61589400-61594800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:61589600-61593800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr3:61589600-61594000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:61589600-61598000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:61589800-61597600	Weak transcription	Placenta	Placenta
34	chr3:61590400-61593000	Strong transcription	Fetal Muscle Leg	muscle
35	chr3:61590600-61592600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:61590600-61592800	Strong transcription	Fetal Stomach	stomach
37	chr3:61590800-61594000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:61591200-61592800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr3:61591200-61592800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr3:61591400-61592600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:61591400-61592800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr3:61591400-61593000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr3:61591400-61593000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:61591600-61592600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:61591600-61592600	Enhancers	Left Ventricle	heart
46	chr3:61591800-61592800	Genic enhancers	H1 Cell Line	embryonic stem cell
47	chr3:61591800-61597200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr3:61592000-61593000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr3:61592000-61593400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:61592000-61593400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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