Variant report

Variant	rs72734468
Chromosome Location	chr4:151375055-151375056
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151374858..151377528-chr4:151379906..151382134,2	K562	blood:
2	chr4:151374833..151377803-chr4:151382991..151384523,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs11721723	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11722416	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11724676	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11726007	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11726346	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11727758	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11727995	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11728230	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11729560	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11729564	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11731650	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11733079	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11736470	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11736546	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11737261	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11930294	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11932482	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11933088	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11934033	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11936019	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11936496	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11936646	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11937036	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11940101	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11946076	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17504373	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17504602	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17504868	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17588916	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17588965	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17589182	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2271043	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2292122	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36187100	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4370117	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4413388	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4419457	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4593110	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4696134	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4696185	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4696320	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4696458	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55770979	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55875525	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55977492	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55998463	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56397289	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56401050	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56671775	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58633621	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60557777	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62344660	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62344663	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62344664	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62344694	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62344697	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62344699	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62344702	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62344705	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62347033	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62347034	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62347035	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62347038	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62347043	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62347044	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62348573	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62348574	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62348579	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62348580	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62348581	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72734450	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72734459	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72734461	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72734475	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72734477	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72734478	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72734489	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72734495	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7690365	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs952098	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv830112	chr4:151243801-151431771	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv869051	chr4:151347901-151737781	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151333000-151408000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:151344800-151387200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:151345000-151389000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:151352600-151377000	Weak transcription	Primary B cells from cord blood	blood
5	chr4:151356200-151386800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:151356600-151411200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr4:151356800-151376800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr4:151356800-151377400	Weak transcription	Primary T cells from cord blood	blood
9	chr4:151356800-151391200	Weak transcription	Fetal Intestine Large	intestine
10	chr4:151358400-151377000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr4:151358400-151398600	Weak transcription	GM12878-XiMat	blood
12	chr4:151358600-151377400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:151364600-151387400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:151364600-151414800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:151372200-151377000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:151372200-151377200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:151372200-151402200	Weak transcription	Fetal Intestine Small	intestine
18	chr4:151372600-151377000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:151373000-151377000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:151373600-151398000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:151374400-151381200	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:151374400-151419000	Weak transcription	Rectal Smooth Muscle	rectum

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