Variant report

Variant	rs264531
Chromosome Location	chr5:61624608-61624609
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:61622771..61624897-chr5:61639078..61640701,2	K562	blood:
2	chr5:61614336..61618770-chr5:61621420..61625459,6	K562	blood:
3	chr5:61614359..61618770-chr5:61621420..61626796,7	K562	blood:
4	chr5:61622184..61624632-chr5:61629178..61631603,3	K562	blood:
5	chr5:61623920..61625497-chr5:61625938..61627625,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10071537	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10461472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10471546	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10939937	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12515967	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12696990	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1309156	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13155700	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13361143	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs149599	0.80[EUR][1000 genomes]
rs152191	0.82[EUR][1000 genomes]
rs152209	0.82[EUR][1000 genomes]
rs16890622	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs174647	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2034240	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2289883	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs247218	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs247220	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs247221	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs247222	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs247223	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs247225	0.81[ASN][1000 genomes]
rs247227	0.81[ASN][1000 genomes]
rs247254	0.81[ASN][1000 genomes]
rs247255	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs247265	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs247266	0.81[ASN][1000 genomes]
rs247267	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs247268	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs247269	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs247270	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs247273	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs247275	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs264519	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs264520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs264521	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs264523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs264528	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs264530	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs27693	0.83[EUR][1000 genomes]
rs3776615	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3822485	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs438143	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4441833	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4700006	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4700009	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56836756	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67150497	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7700569	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707035	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9291758	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs959899	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9968583	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9968586	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2757996	chr5:61403138-61687817	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv881726	chr5:61556730-61676911	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv881727	chr5:61578041-61700970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61603200-61629200	Weak transcription	Lung	lung
2	chr5:61603200-61629200	Weak transcription	Spleen	Spleen
3	chr5:61603400-61625200	Weak transcription	Stomach Mucosa	stomach
4	chr5:61603400-61658600	Weak transcription	Aorta	Aorta
5	chr5:61603600-61629200	Weak transcription	Psoas Muscle	Psoas
6	chr5:61603800-61629200	Weak transcription	Left Ventricle	heart
7	chr5:61604000-61629000	Weak transcription	Thymus	Thymus
8	chr5:61604400-61627000	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:61604400-61629200	Weak transcription	Esophagus	oesophagus
10	chr5:61604400-61629400	Weak transcription	Pancreas	Pancrea
11	chr5:61604400-61643800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:61604600-61630000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:61604600-61658600	Weak transcription	Fetal Kidney	kidney
14	chr5:61606800-61629400	Weak transcription	Fetal Thymus	thymus
15	chr5:61607200-61625000	Weak transcription	Fetal Brain Female	brain
16	chr5:61607200-61627200	Weak transcription	Fetal Lung	lung
17	chr5:61607200-61629200	Weak transcription	HSMMtube	muscle
18	chr5:61607800-61669400	Weak transcription	NHLF	lung
19	chr5:61608800-61625000	Weak transcription	HSMM	muscle
20	chr5:61610200-61658600	Weak transcription	Ovary	ovary
21	chr5:61610400-61629400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:61611400-61629200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:61611600-61630200	Weak transcription	Fetal Intestine Large	intestine
24	chr5:61611600-61639000	Weak transcription	HMEC	breast
25	chr5:61611600-61643800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:61611800-61630000	Weak transcription	NHEK	skin
27	chr5:61612000-61642400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:61612000-61661000	Weak transcription	Colon Smooth Muscle	Colon
29	chr5:61612200-61628600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:61614600-61629000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr5:61615600-61627200	Weak transcription	Small Intestine	intestine
32	chr5:61615600-61629200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:61615600-61658600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr5:61615800-61627000	Weak transcription	Fetal Brain Male	brain
35	chr5:61618000-61624800	Weak transcription	A549	lung
36	chr5:61618000-61625000	Weak transcription	NHDF-Ad	bronchial
37	chr5:61618000-61626800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr5:61618000-61629200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:61618000-61629200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:61618000-61629400	Weak transcription	Fetal Stomach	stomach
41	chr5:61618200-61629600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:61618200-61647800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr5:61618400-61629000	Weak transcription	Fetal Intestine Small	intestine
44	chr5:61618400-61629200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr5:61618400-61658600	Weak transcription	Hela-S3	cervix
46	chr5:61618600-61625000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:61618600-61625200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:61618600-61629000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr5:61618600-61629000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr5:61618600-61629400	Weak transcription	Placenta	Placenta

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