Variant report

Variant	rs7720240
Chromosome Location	chr5:60347501-60347502
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10035893	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10043790	0.87[AMR][1000 genomes]
rs10044183	1.00[AMR][1000 genomes]
rs10046059	1.00[AMR][1000 genomes]
rs10050696	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10051150	1.00[AMR][1000 genomes]
rs10056202	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10056513	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10058726	1.00[AMR][1000 genomes]
rs10064129	1.00[AMR][1000 genomes]
rs10064292	0.87[AMR][1000 genomes]
rs10067476	0.87[AMR][1000 genomes]
rs10069623	1.00[AMR][1000 genomes]
rs10071845	0.87[AMR][1000 genomes]
rs10077508	1.00[AMR][1000 genomes]
rs10471265	0.85[AMR][1000 genomes]
rs10471504	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12110162	1.00[AMR][1000 genomes]
rs12696977	0.87[AMR][1000 genomes]
rs13353957	1.00[AMR][1000 genomes]
rs13355940	0.87[AMR][1000 genomes]
rs13356787	0.87[AMR][1000 genomes]
rs13360962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13362092	0.87[AMR][1000 genomes]
rs2045678	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2161199	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28411035	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28446443	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28507971	0.87[AMR][1000 genomes]
rs28534860	1.00[AMR][1000 genomes]
rs28582880	1.00[AMR][1000 genomes]
rs28781684	0.87[AMR][1000 genomes]
rs28816681	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28882716	1.00[AMR][1000 genomes]
rs28888995	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4647029	0.87[AMR][1000 genomes]
rs4647036	0.87[AMR][1000 genomes]
rs4647061	0.87[AMR][1000 genomes]
rs4647079	1.00[AMR][1000 genomes]
rs4647086	0.87[AMR][1000 genomes]
rs4647097	0.87[AMR][1000 genomes]
rs4647127	0.87[AMR][1000 genomes]
rs4647133	0.87[AMR][1000 genomes]
rs4647144	0.87[AMR][1000 genomes]
rs4647149	1.00[AMR][1000 genomes]
rs4647157	1.00[AMR][1000 genomes]
rs56791802	0.87[AMR][1000 genomes]
rs57818831	0.87[AMR][1000 genomes]
rs58104554	1.00[AMR][1000 genomes]
rs58495922	0.87[AMR][1000 genomes]
rs59030859	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59158697	0.85[AMR][1000 genomes]
rs6864508	0.85[AMR][1000 genomes]
rs6887938	1.00[AMR][1000 genomes]
rs6894736	1.00[AMR][1000 genomes]
rs73095990	0.87[AMR][1000 genomes]
rs73095991	1.00[AMR][1000 genomes]
rs73095993	0.87[AMR][1000 genomes]
rs73099808	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099809	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099811	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73112244	0.87[AMR][1000 genomes]
rs73112254	1.00[AMR][1000 genomes]
rs73114340	1.00[AMR][1000 genomes]
rs7704436	0.87[AMR][1000 genomes]
rs7716539	1.00[AMR][1000 genomes]
rs7728655	0.87[AMR][1000 genomes]
rs7731888	1.00[AMR][1000 genomes]
rs7734656	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7735610	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7735913	0.87[AMR][1000 genomes]
rs9291697	0.85[AMR][1000 genomes]
rs9291698	1.00[AMR][1000 genomes]
rs9291699	0.87[AMR][1000 genomes]
rs9291703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9968618	0.97[AFR][1000 genomes];1.00[AMR][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	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1017095	chr5:60050600-60414783	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv933326	chr5:60074031-60413061	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv881715	chr5:60116613-60356423	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv881717	chr5:60141245-60372582	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv869065	chr5:60180775-60428760	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv598313	chr5:60247815-60374912	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv881722	chr5:60266875-60384171	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1019307	chr5:60295350-60409077	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60324600-60354000	Weak transcription	Primary T cells from cord blood	blood
2	chr5:60326000-60400800	Weak transcription	Left Ventricle	heart
3	chr5:60339800-60348200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr5:60344800-60353400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:60345600-60350800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:60345800-60349600	Enhancers	Fetal Intestine Large	intestine
7	chr5:60345800-60349600	Enhancers	Fetal Intestine Small	intestine
8	chr5:60346000-60347600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:60346000-60347800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:60346000-60348000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:60346200-60347600	Enhancers	NHLF	lung
12	chr5:60346200-60349200	Enhancers	NH-A	brain
13	chr5:60346200-60349400	Enhancers	HSMM	muscle
14	chr5:60346200-60349600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:60346200-60350400	Enhancers	NHDF-Ad	bronchial
16	chr5:60346400-60347800	Enhancers	HUVEC	blood vessel
17	chr5:60346400-60350000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:60346400-60350200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:60346400-60350400	Enhancers	HMEC	breast
20	chr5:60346400-60350400	Enhancers	Osteobl	bone
21	chr5:60346600-60347600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:60346600-60348000	Enhancers	Hela-S3	cervix
23	chr5:60346600-60350400	Enhancers	NHEK	skin
24	chr5:60346800-60347800	Enhancers	Fetal Lung	lung
25	chr5:60346800-60349600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:60346800-60350400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:60346800-60350600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:60347000-60347600	Enhancers	Fetal Heart	heart
29	chr5:60347000-60347800	Enhancers	Small Intestine	intestine
30	chr5:60347000-60347800	Flanking Active TSS	A549	lung
31	chr5:60347000-60349000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:60347000-60350000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:60347000-60350600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:60347200-60347800	Enhancers	Fetal Kidney	kidney
35	chr5:60347200-60349600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:60347200-60379200	Weak transcription	Ovary	ovary
37	chr5:60347400-60347600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr5:60347400-60348000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:60347400-60348400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr5:60347400-60348600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr5:60347400-60348600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr5:60347400-60348800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr5:60347400-60349800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr5:60347400-60351400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:60347400-60353000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr5:60347400-60356000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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