Variant report

Variant	rs71570842
Chromosome Location	chr6:117592374-117592375
allele	C/G
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:16)

rs_ID	r²[population]
rs13194610	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13199476	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13208901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210974	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28391390	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35421344	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35998625	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3822947	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57100713	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61153326	0.86[AFR][1000 genomes]
rs71570843	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9387459	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9387461	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9387462	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv948766	chr6:117407275-117641016	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2758076	chr6:117431224-117627275	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2759465	chr6:117431224-117627275	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv830785	chr6:117448943-117627275	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2757190	chr6:117464048-117609529	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117590800-117592400	Active TSS	Psoas Muscle	Psoas
2	chr6:117591000-117592400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr6:117591000-117592400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr6:117591000-117592400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr6:117591000-117592400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr6:117591000-117592400	Bivalent Enhancer	Liver	Liver
7	chr6:117591000-117592400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
8	chr6:117591000-117592800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr6:117591000-117593400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr6:117591200-117592400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr6:117591200-117592400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:117591200-117592400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:117591200-117592400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:117591200-117592400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:117591200-117592400	Enhancers	Gastric	stomach
16	chr6:117591200-117592400	Bivalent Enhancer	Lung	lung
17	chr6:117591200-117592400	Bivalent Enhancer	Spleen	Spleen
18	chr6:117591400-117592400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:117591400-117592400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:117591400-117592400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:117591400-117592400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
22	chr6:117591400-117592400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
23	chr6:117591400-117592400	Bivalent Enhancer	Placenta	Placenta
24	chr6:117591400-117592400	Active TSS	HSMMtube	muscle
25	chr6:117591600-117592400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr6:117591600-117592400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr6:117591600-117592400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
28	chr6:117591600-117592400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
29	chr6:117591600-117592400	Active TSS	HSMM	muscle
30	chr6:117591800-117592400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:117591800-117592400	Bivalent Enhancer	Adipose Nuclei	Adipose
32	chr6:117591800-117592400	Bivalent Enhancer	NH-A	brain
33	chr6:117591800-117593200	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr6:117591800-117593200	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr6:117592000-117592400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:117592000-117592400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:117592000-117592400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:117592000-117592400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
39	chr6:117592000-117592400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:117592000-117592400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:117592000-117592400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:117592000-117592400	Bivalent Enhancer	Esophagus	oesophagus
43	chr6:117592000-117592400	Bivalent Enhancer	Ovary	ovary
44	chr6:117592000-117592400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
45	chr6:117592200-117592400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
46	chr6:117592200-117592400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:117592200-117592400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr6:117592200-117592400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:117592200-117592400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:117592200-117592400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--

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