Variant report

Variant	rs41342148
Chromosome Location	chr16:76227906-76227907
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10163251	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11149876	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11149877	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11866633	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11866636	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13331296	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13331602	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1423871	0.81[EUR][1000 genomes]
rs1423872	0.81[EUR][1000 genomes]
rs1423873	0.81[EUR][1000 genomes]
rs1423874	0.94[EUR][1000 genomes]
rs16943919	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16943934	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16943939	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16943941	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16943946	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16943950	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16943958	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16943959	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16943961	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16943968	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16943982	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16943984	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16943985	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16943987	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16943993	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16944009	1.00[EUR][1000 genomes]
rs16944028	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1862734	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2068766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2068767	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2866618	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35502579	1.00[EUR][1000 genomes]
rs3851746	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3974505	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41362653	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4402597	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4442846	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55635438	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55881740	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55994904	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56953914	0.81[EUR][1000 genomes]
rs57109711	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57998481	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58760709	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59928162	0.81[EUR][1000 genomes]
rs60908538	0.85[ASN][1000 genomes]
rs61104953	0.81[EUR][1000 genomes]
rs61462397	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61656234	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73615421	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73615422	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73615426	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74024925	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74024932	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74025668	1.00[EUR][1000 genomes]
rs74025669	1.00[EUR][1000 genomes]
rs74025670	1.00[EUR][1000 genomes]
rs74025672	0.81[EUR][1000 genomes]
rs74025673	0.81[EUR][1000 genomes]
rs74025674	0.81[EUR][1000 genomes]
rs74025675	0.81[EUR][1000 genomes]
rs74025676	0.81[EUR][1000 genomes]
rs74025677	0.81[EUR][1000 genomes]
rs74025678	0.81[EUR][1000 genomes]
rs74025679	0.81[EUR][1000 genomes]
rs74025680	0.81[EUR][1000 genomes]
rs7500400	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8061252	0.81[EUR][1000 genomes]
rs9806802	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9806966	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9806969	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1064607	chr16:75787129-76449101	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1065794	chr16:75792288-76434118	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv542961	chr16:75792288-76434118	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1059162	chr16:75929348-76730816	Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv572995	chr16:75935025-76708417	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv572996	chr16:75935025-76735249	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv817220	chr16:75939705-76735383	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1056021	chr16:75955522-76729765	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv542962	chr16:75955522-76729765	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv906935	chr16:76031737-76453110	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv906936	chr16:76031737-76768178	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv817549	chr16:76067068-76582099	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv833285	chr16:76136345-76345398	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1065644	chr16:76166579-76475634	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv573002	chr16:76174188-76280843	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv906938	chr16:76174188-76293092	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv471096	chr16:76186991-76230778	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv906939	chr16:76188497-76277895	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv520847	chr16:76213989-76230778	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv869200	chr16:76227867-76695732	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76226400-76229000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr16:76226600-76228400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr16:76226800-76229200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr16:76227200-76229000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr16:76227200-76229200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:76227200-76229400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr16:76227200-76229400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr16:76227400-76228000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr16:76227400-76228200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr16:76227400-76228400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:76227400-76229000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr16:76227400-76229000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:76227400-76229200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr16:76227400-76229200	Enhancers	HMEC	breast
15	chr16:76227400-76229400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr16:76227400-76229400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr16:76227600-76228000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:76227600-76228200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr16:76227600-76229000	Enhancers	Fetal Intestine Large	intestine
20	chr16:76227600-76229200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr16:76227600-76229200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr16:76227800-76228000	Enhancers	Adipose Nuclei	Adipose
23	chr16:76227800-76228000	Enhancers	Brain Cingulate Gyrus	brain
24	chr16:76227800-76228800	Active TSS	Brain Substantia Nigra	brain
25	chr16:76227800-76229000	Enhancers	Brain Anterior Caudate	brain

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