Variant report

Variant	rs72719640
Chromosome Location	chr4:151748192-151748193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs55730642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55768818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56029632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56057309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56361792	1.00[EUR][1000 genomes]
rs72719606	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719664	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736333	1.00[EUR][1000 genomes]
rs72736348	1.00[EUR][1000 genomes]
rs72736352	1.00[EUR][1000 genomes]
rs72736355	1.00[EUR][1000 genomes]
rs72736357	1.00[EUR][1000 genomes]
rs72736360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736371	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736395	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736402	1.00[EUR][1000 genomes]
rs72738306	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738321	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738353	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1032070	chr4:151514664-151775259	Enhancers Weak transcription 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	4 gene(s)	inside rSNPs	diseases
5	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers 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	38 gene(s)	inside rSNPs	diseases
8	nsv1018404	chr4:151664438-152067409	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1017850	chr4:151664438-152071876	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	esv2763837	chr4:151664438-152071888	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv870257	chr4:151665349-152072867	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv1015387	chr4:151673751-152071876	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv526976	chr4:151675819-152055073	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
14	nsv1025077	chr4:151682266-152035733	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription 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 lncRNA	31 gene(s)	inside rSNPs	diseases
15	nsv537303	chr4:151682266-152035733	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking 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 lncRNA	31 gene(s)	inside rSNPs	diseases
16	nsv949066	chr4:151693149-152069566	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
17	nsv949002	chr4:151693149-152095109	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
18	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
19	nsv1031720	chr4:151708502-152071876	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
20	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
21	nsv1031516	chr4:151718614-152065644	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
22	nsv537304	chr4:151718614-152065644	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
23	nsv1022884	chr4:151718814-152065505	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
24	nsv537305	chr4:151718814-152065505	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151645600-151749000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:151653000-151749200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:151691200-151749200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:151691200-151749200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:151692800-151748600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr4:151711600-151749200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:151713000-151761200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:151724400-151770600	Weak transcription	A549	lung
9	chr4:151724800-151763400	Weak transcription	Esophagus	oesophagus
10	chr4:151725400-151749200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr4:151726600-151749200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:151726600-151780400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:151727000-151749000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:151728200-151749200	Weak transcription	Pancreas	Pancrea
15	chr4:151728800-151749000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr4:151731600-151748400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr4:151731600-151749200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:151732200-151748800	Weak transcription	Fetal Stomach	stomach
19	chr4:151735000-151773000	Weak transcription	Hela-S3	cervix
20	chr4:151735800-151748800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:151737200-151754000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:151737200-151775000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:151737400-151772800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:151737800-151749200	Weak transcription	Fetal Lung	lung
25	chr4:151737800-151749200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:151737800-151751200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr4:151738400-151748400	Weak transcription	Adipose Nuclei	Adipose
28	chr4:151738400-151748600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:151738400-151749200	Weak transcription	NH-A	brain
30	chr4:151738400-151770400	Weak transcription	Brain Substantia Nigra	brain
31	chr4:151738400-151775200	Weak transcription	Osteobl	bone
32	chr4:151739200-151748400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:151739800-151748800	Weak transcription	Aorta	Aorta
34	chr4:151739800-151749200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:151740000-151749000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:151740000-151773600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:151740600-151749400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr4:151742800-151748200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr4:151743000-151761200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:151743400-151748200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:151743400-151749200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr4:151743600-151749200	Weak transcription	Primary B cells from cord blood	blood
43	chr4:151743800-151748800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr4:151743800-151772800	Weak transcription	Placenta	Placenta
45	chr4:151743800-151795600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:151744000-151749200	Weak transcription	HSMMtube	muscle
47	chr4:151744000-151761200	Weak transcription	Psoas Muscle	Psoas
48	chr4:151744200-151748800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr4:151744200-151749200	Weak transcription	Brain Hippocampus Middle	brain
50	chr4:151744200-151749200	Weak transcription	Gastric	stomach

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