Variant report

Variant	rs4961740
Chromosome Location	chr9:16736886-16736887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10283606	0.80[EUR][1000 genomes]
rs10732336	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10733317	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10733318	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10733319	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10738450	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10738453	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10738454	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10738455	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10738456	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10738458	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10756795	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10756802	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10756803	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10756804	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10756805	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10756806	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10810605	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10810608	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10810609	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10962563	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10962564	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10962565	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10962566	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13285058	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1330294	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1330295	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1330296	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1330297	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1330298	0.81[ASN][1000 genomes]
rs1330302	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1360285	0.84[EUR][1000 genomes]
rs1361076	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1411429	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1411430	0.92[ASN][1000 genomes]
rs1537004	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1544103	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1854694	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1888205	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1928849	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1970284	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1970285	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1980935	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1980936	0.81[ASN][1000 genomes]
rs1980937	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2039187	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2039188	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2150090	0.92[ASN][1000 genomes]
rs2183408	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2210104	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2225326	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2840290	0.92[ASN][1000 genomes]
rs28529611	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3850446	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3850447	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3904154	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4405008	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4626704	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4961739	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4961742	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4961744	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4961750	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4961751	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4961752	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4961753	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5016911	0.81[ASN][1000 genomes]
rs5016917	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62541545	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62541547	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6475069	0.80[AMR][1000 genomes]
rs6475070	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6475071	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6475073	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6475074	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6475075	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6475076	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6475077	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6475078	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7021735	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7022131	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7028403	0.88[AMR][1000 genomes]
rs7028827	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7029195	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7029546	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7032294	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7034961	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7035033	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7035178	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7035732	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7035869	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7038545	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7040406	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7042146	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7043797	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7047213	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73419968	0.89[ASN][1000 genomes]
rs7470506	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7851438	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7853424	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7853541	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7853573	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7853718	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7853764	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7853897	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7855308	0.83[ASN][1000 genomes]
rs7857685	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7857721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7857929	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7858709	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7858712	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7858914	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7866999	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7867001	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7867602	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7869115	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7874791	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9987410	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9987413	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9987475	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9987476	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9987698	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9987701	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530933	chr9:16251206-16830845	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530934	chr9:16281246-16779432	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1032856	chr9:16465330-16773471	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv540073	chr9:16465330-16773471	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv2758627	chr9:16641966-16809203	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv2759673	chr9:16641966-16809203	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv892649	chr9:16677221-16761597	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv892650	chr9:16696187-16950860	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16728200-16744600	Weak transcription	Fetal Intestine Large	intestine
2	chr9:16728400-16743200	Weak transcription	Fetal Kidney	kidney
3	chr9:16728400-16744200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr9:16728800-16743400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr9:16729000-16743200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:16729400-16744400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr9:16729600-16744200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr9:16729800-16743400	Weak transcription	Osteobl	bone
9	chr9:16730000-16738200	Weak transcription	NH-A	brain
10	chr9:16730000-16744600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:16730200-16743400	Weak transcription	Fetal Stomach	stomach
12	chr9:16730200-16748200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:16730600-16744400	Weak transcription	Colon Smooth Muscle	Colon
14	chr9:16731200-16744600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr9:16733400-16743800	Weak transcription	HSMM	muscle
16	chr9:16733800-16749200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr9:16734800-16745000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:16735000-16739400	Weak transcription	Ovary	ovary
19	chr9:16735000-16743600	Weak transcription	NHLF	lung
20	chr9:16735000-16749200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr9:16735200-16738200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr9:16735200-16744400	Weak transcription	Fetal Lung	lung
23	chr9:16735400-16738200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr9:16735400-16738200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr9:16735400-16738400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr9:16735400-16738400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr9:16736000-16742600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:16736000-16742600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr9:16736200-16744600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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