Variant report

Variant	rs506823
Chromosome Location	chr6:160771465-160771466
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10945670	0.85[EUR][1000 genomes]
rs1317652	0.85[EUR][1000 genomes]
rs1605963	0.85[EUR][1000 genomes]
rs1605964	0.85[EUR][1000 genomes]
rs1605965	0.89[ASN][1000 genomes]
rs2136676	0.85[EUR][1000 genomes]
rs2313453	0.85[EUR][1000 genomes]
rs2661845	0.82[ASN][1000 genomes]
rs2665357	0.82[EUR][1000 genomes]
rs2872317	0.85[EUR][1000 genomes]
rs3105748	0.85[EUR][1000 genomes]
rs3105749	0.85[EUR][1000 genomes]
rs3105752	0.85[EUR][1000 genomes]
rs3123633	0.86[EUR][1000 genomes]
rs3123634	0.86[EUR][1000 genomes]
rs3127574	0.87[EUR][1000 genomes]
rs316172	0.87[ASN][1000 genomes]
rs316177	0.87[ASN][1000 genomes]
rs366608	0.88[ASN][1000 genomes]
rs367213	0.87[ASN][1000 genomes]
rs372665	0.87[ASN][1000 genomes]
rs377551	0.93[ASN][1000 genomes]
rs383420	0.87[ASN][1000 genomes]
rs394487	0.93[ASN][1000 genomes]
rs396843	0.87[ASN][1000 genomes]
rs401746	0.87[ASN][1000 genomes]
rs405405	0.93[ASN][1000 genomes]
rs416879	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4235926	0.86[EUR][1000 genomes]
rs423961	0.87[ASN][1000 genomes]
rs425983	0.87[ASN][1000 genomes]
rs431747	0.88[ASN][1000 genomes]
rs435421	0.88[ASN][1000 genomes]
rs445849	0.88[ASN][1000 genomes]
rs4709425	0.86[EUR][1000 genomes]
rs4709426	0.85[EUR][1000 genomes]
rs474513	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs486339	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs486359	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs487060	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs487152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs490275	0.88[ASN][1000 genomes]
rs501470	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs505870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs509707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs518295	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs519118	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs520685	0.89[ASN][1000 genomes]
rs520829	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs537937	0.88[ASN][1000 genomes]
rs539298	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs539958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs541091	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs543159	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs547290	0.87[ASN][1000 genomes]
rs555754	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs569919	0.87[ASN][1000 genomes]
rs575719	0.83[ASN][1000 genomes]
rs575796	0.87[ASN][1000 genomes]
rs581556	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs609562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs622217	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs624319	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs634916	0.87[ASN][1000 genomes]
rs637614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs639426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs641990	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs668871	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs673259	0.92[ASN][1000 genomes]
rs673736	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs675162	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6905958	0.86[EUR][1000 genomes]
rs6923921	0.86[EUR][1000 genomes]
rs695174	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs884742	0.85[EUR][1000 genomes]
rs9346816	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9364552	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv35098	chr6:160422589-161070870	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv2757197	chr6:160432331-161070870	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv818463	chr6:160435569-161025547	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1030746	chr6:160592321-160867031	Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv538493	chr6:160592321-160867031	Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1030171	chr6:160648469-161091864	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv886809	chr6:160670494-160979275	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv886810	chr6:160700769-160897872	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv886811	chr6:160700769-161070990	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv886812	chr6:160706661-161024848	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
13	esv3446643	chr6:160767862-160771710	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160768600-160771600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:160768800-160771600	Active TSS	A549	lung
3	chr6:160768800-160771800	Active TSS	Aorta	Aorta
4	chr6:160769000-160772000	Active TSS	Psoas Muscle	Psoas
5	chr6:160769800-160772000	Flanking Active TSS	Liver	Liver
6	chr6:160770000-160772000	Bivalent/Poised TSS	Lung	lung
7	chr6:160770400-160771600	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr6:160770400-160771600	Bivalent Enhancer	Stomach Mucosa	stomach
9	chr6:160770400-160775800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:160770600-160771600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:160770800-160771600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:160770800-160771600	Flanking Active TSS	Colon Smooth Muscle	Colon
13	chr6:160770800-160772000	Active TSS	Placenta	Placenta
14	chr6:160770800-160776200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:160771000-160771600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
16	chr6:160771000-160771800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:160771000-160771800	Flanking Bivalent TSS/Enh	HepG2	liver
18	chr6:160771200-160771600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
19	chr6:160771200-160771800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
20	chr6:160771200-160772000	Enhancers	Ovary	ovary
21	chr6:160771200-160775800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:160771200-160780400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:160771400-160771600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
24	chr6:160771400-160771600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
25	chr6:160771400-160771600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:160771400-160771600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:160771400-160771600	Bivalent Enhancer	Adipose Nuclei	Adipose
28	chr6:160771400-160771600	Bivalent Enhancer	Gastric	stomach
29	chr6:160771400-160771600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
30	chr6:160771400-160771600	Enhancers	NHEK	skin
31	chr6:160771400-160771800	Enhancers	Stomach Smooth Muscle	stomach
32	chr6:160771400-160772000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:160771400-160772000	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr6:160771400-160772000	Enhancers	Rectal Smooth Muscle	rectum
35	chr6:160771400-160775800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:160771400-160775800	Weak transcription	Esophagus	oesophagus

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