Variant report

Variant	rs13154549
Chromosome Location	chr5:61944322-61944323
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:61944121..61945939-chr5:61947041..61949118,2	K562	blood:
2	chr5:61940617..61943358-chr5:61943464..61946144,3	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs12654936	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12656974	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12657950	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13180572	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13181266	0.91[EUR][1000 genomes]
rs13189521	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs153869	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs16890869	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173530	0.80[AMR][1000 genomes]
rs181784	0.80[AMR][1000 genomes]
rs187624	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs190445	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2441115	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs2463079	0.80[AMR][1000 genomes]
rs247477	0.80[AMR][1000 genomes]
rs247481	0.80[AMR][1000 genomes]
rs247484	0.82[AMR][1000 genomes]
rs255391	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs255392	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs26619	0.80[AMR][1000 genomes]
rs26620	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs26626	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs26627	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs32047	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs32053	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs32148	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs32149	0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs32151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs32152	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs32153	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs32156	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs32159	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs32162	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs32165	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs32167	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs32169	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs32170	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs32172	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs32173	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs32176	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs32177	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs32178	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs32180	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs32183	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs32184	0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs32185	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs32189	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35011	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes]
rs35012	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs35079068	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35183011	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35807464	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35961924	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs369624	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs40290	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40404	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs40579	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6893243	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785665	0.80[AMR][1000 genomes]
rs814169	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv881732	chr5:61811970-62063366	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	esv2763458	chr5:61852234-62157166	ZNF genes & repeats Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1022817	chr5:61853619-62149259	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv948334	chr5:61891622-62197219	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv4858	chr5:61922306-61966961	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61864800-61945800	Weak transcription	HSMMtube	muscle
2	chr5:61906000-61946000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:61917200-61945800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:61923000-61945400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:61924000-61944400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:61924200-61949200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:61924200-61950600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:61925600-61944800	Weak transcription	Dnd41	blood
9	chr5:61925800-61945200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:61925800-61949200	Weak transcription	Left Ventricle	heart
11	chr5:61926800-61945400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:61933200-61949400	Weak transcription	Adipose Nuclei	Adipose
13	chr5:61939000-61945400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:61939800-61948800	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:61940200-61944600	Weak transcription	Pancreas	Pancrea
16	chr5:61940200-61948800	Weak transcription	HUVEC	blood vessel
17	chr5:61942800-61946400	Enhancers	Fetal Thymus	thymus
18	chr5:61943200-61944600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr5:61943400-61944800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr5:61943400-61944800	Enhancers	HepG2	liver
21	chr5:61943600-61945400	Weak transcription	Thymus	Thymus
22	chr5:61943800-61944400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:61943800-61944600	Enhancers	Placenta	Placenta
24	chr5:61944000-61944400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:61944000-61944400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:61944000-61944600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:61944000-61944600	Enhancers	Fetal Muscle Trunk	muscle
28	chr5:61944000-61945200	Enhancers	Spleen	Spleen
29	chr5:61944200-61944400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr5:61944200-61944400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:61944200-61944400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr5:61944200-61944600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:61944200-61944600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:61944200-61944600	Enhancers	Right Atrium	heart
35	chr5:61944200-61945600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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