Variant report

Variant	rs257780
Chromosome Location	chr5:15793606-15793607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1087196	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11948399	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12655296	0.81[EUR][1000 genomes]
rs146351	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs173998	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs185406	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs187705	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2089201	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs257734	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs257735	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs257736	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs257737	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs257738	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs257739	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs257740	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs257741	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs257742	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs257744	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs257745	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs257746	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs257747	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs257748	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs257749	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs257750	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs257752	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs257753	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs257754	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs257755	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs257756	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs257757	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs257758	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs257759	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs257760	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs257761	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs257762	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs257763	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs257764	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs257765	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs257767	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs257768	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs257769	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs257770	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs257771	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs257772	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs257774	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs257776	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs257777	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs257778	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs257779	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs257781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs257782	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35573147	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35695218	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs366760	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs389114	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs389804	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs393806	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs398082	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs399259	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs402438	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs406819	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs407717	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs415718	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs416952	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs418619	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs422958	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs423447	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs428910	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs433107	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs434475	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs435109	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs441343	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs445085	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4643955	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs560818	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62348078	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62348081	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62348083	0.81[AMR][1000 genomes]
rs6870163	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs793424	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs793425	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516929	chr5:15087791-15870300	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1023068	chr5:15095221-15863583	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh 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	nsv869040	chr5:15097602-15866117	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv530222	chr5:15151662-15851485	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3507774	chr5:15593461-15822407	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3507776	chr5:15593461-15822407	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1028089	chr5:15636285-15883910	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv537676	chr5:15636285-15883910	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1024248	chr5:15638067-15863583	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv537677	chr5:15638067-15863583	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv880755	chr5:15670377-15938553	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
12	esv2757107	chr5:15678556-15810987	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv2759327	chr5:15678556-15810987	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv2763894	chr5:15714022-15863332	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1031483	chr5:15738485-15926083	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15764200-15796800	Weak transcription	Aorta	Aorta
2	chr5:15786000-15793800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:15786000-15794200	Weak transcription	Fetal Brain Female	brain
4	chr5:15786600-15794000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:15787400-15794000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:15787600-15793800	Weak transcription	Adipose Nuclei	Adipose
7	chr5:15787600-15796600	Weak transcription	Right Ventricle	heart
8	chr5:15788200-15794200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:15789000-15794000	Weak transcription	Fetal Stomach	stomach
10	chr5:15789800-15793800	Enhancers	Fetal Heart	heart
11	chr5:15789800-15797400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:15790000-15794000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:15790000-15794600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:15790400-15795000	Enhancers	Brain Substantia Nigra	brain
15	chr5:15791000-15794400	Enhancers	Right Atrium	heart
16	chr5:15791200-15794000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:15791200-15794200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:15791200-15794200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:15791600-15794000	Enhancers	Brain Hippocampus Middle	brain
20	chr5:15791600-15794200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:15791600-15795000	Enhancers	Brain Cingulate Gyrus	brain
22	chr5:15791600-15797200	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr5:15791800-15794000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr5:15791800-15796800	Weak transcription	Fetal Muscle Leg	muscle
25	chr5:15792200-15794000	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:15792200-15794000	Weak transcription	HUVEC	blood vessel
27	chr5:15792200-15794400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:15792200-15795200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:15792600-15793800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:15792600-15794600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:15792600-15794800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:15792600-15795000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:15792600-15795800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:15792600-15796600	Weak transcription	HSMMtube	muscle
35	chr5:15792600-15797200	Weak transcription	HSMM	muscle
36	chr5:15792800-15794200	Enhancers	Left Ventricle	heart
37	chr5:15792800-15794600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:15792800-15795400	Enhancers	Ovary	ovary
39	chr5:15792800-15796000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr5:15793200-15794000	Weak transcription	Brain Angular Gyrus	brain
41	chr5:15793400-15793800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:15793400-15793800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr5:15793400-15794200	Enhancers	Brain Anterior Caudate	brain

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