Variant report

Variant	rs56347315
Chromosome Location	chr5:37509469-37509470
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37503334..37505446-chr5:37509179..37510910,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs55789634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56003317	0.82[AFR][1000 genomes]
rs56103322	1.00[AMR][1000 genomes]
rs56341418	1.00[AMR][1000 genomes]
rs57825896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58870605	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60568621	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61742643	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6860342	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6866115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6872560	0.84[AFR][1000 genomes]
rs6876361	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6880384	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6889709	1.00[AMR][1000 genomes]
rs72740947	0.84[AFR][1000 genomes]
rs72740970	0.87[AFR][1000 genomes]
rs72740974	0.82[AFR][1000 genomes]
rs72740989	0.82[AFR][1000 genomes]
rs72740990	0.82[AFR][1000 genomes]
rs72740991	0.82[AFR][1000 genomes]
rs73749028	1.00[AMR][1000 genomes]
rs73749029	1.00[AMR][1000 genomes]
rs73749030	1.00[AMR][1000 genomes]
rs73749031	1.00[AMR][1000 genomes]
rs73749034	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749036	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749038	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749041	1.00[AMR][1000 genomes]
rs73749042	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749045	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749047	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749068	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749071	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749072	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7703724	1.00[AMR][1000 genomes]
rs7709345	1.00[AMR][1000 genomes]
rs7709969	0.85[AFR][1000 genomes]
rs7726448	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers 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 miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS 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	43 gene(s)	inside rSNPs	diseases
4	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	nsv530227	chr5:37157106-37571999	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
9	nsv948741	chr5:37179341-37582164	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
10	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
11	nsv881492	chr5:37239240-37543121	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
12	nsv880444	chr5:37239240-37556926	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
13	nsv1015983	chr5:37240827-37666601	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers 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	40 gene(s)	inside rSNPs	diseases
14	nsv1021284	chr5:37264275-37630188	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv1029088	chr5:37285576-37604945	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
16	nsv597844	chr5:37287836-37567851	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	nsv1028058	chr5:37302941-37581735	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv537728	chr5:37302941-37581735	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
21	nsv1028054	chr5:37331852-37586211	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv537730	chr5:37331852-37586211	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
23	nsv471012	chr5:37349895-37545998	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	nsv597845	chr5:37369958-37556926	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
25	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
26	nsv1034094	chr5:37406859-37666704	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
27	nsv537731	chr5:37406859-37666704	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
28	nsv1015514	chr5:37409579-37522074	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
29	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
30	nsv880327	chr5:37443079-37567267	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
31	nsv880890	chr5:37443079-37681646	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
32	nsv1030223	chr5:37463746-37514800	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
33	nsv1033104	chr5:37463746-37555317	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
34	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
35	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
36	nsv980638	chr5:37504686-37515708	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37476600-37513200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr5:37480600-37510800	Weak transcription	Brain Angular Gyrus	brain
3	chr5:37481600-37519200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:37481800-37519400	Weak transcription	Pancreas	Pancrea
5	chr5:37481800-37521200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:37482200-37518400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:37482200-37519200	Weak transcription	Placenta	Placenta
8	chr5:37483000-37521400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr5:37483000-37525400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr5:37483200-37519600	Weak transcription	Left Ventricle	heart
11	chr5:37488200-37518400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:37488200-37519200	Weak transcription	Ovary	ovary
13	chr5:37488600-37520200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr5:37489000-37548400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr5:37489200-37518400	Weak transcription	Dnd41	blood
16	chr5:37489600-37511800	Weak transcription	GM12878-XiMat	blood
17	chr5:37489600-37519400	Weak transcription	Spleen	Spleen
18	chr5:37489600-37521000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr5:37491000-37518000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr5:37491000-37519200	Weak transcription	Thymus	Thymus
21	chr5:37491200-37519200	Weak transcription	Lung	lung
22	chr5:37491200-37519400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:37491200-37519400	Weak transcription	Esophagus	oesophagus
24	chr5:37493000-37522000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:37493200-37519400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:37493600-37522800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:37495200-37520800	Weak transcription	Liver	Liver
28	chr5:37495400-37518400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr5:37495600-37512600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr5:37495800-37519200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:37496200-37518400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:37496200-37518400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:37496200-37522000	Weak transcription	HSMM	muscle
34	chr5:37496200-37533200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:37496600-37518000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:37496600-37541000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:37497000-37520600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:37497200-37517400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:37497200-37519200	Weak transcription	Aorta	Aorta
40	chr5:37497200-37519400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:37497200-37519400	Weak transcription	Colonic Mucosa	Colon
42	chr5:37497400-37519200	Weak transcription	Gastric	stomach
43	chr5:37499000-37517600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:37499200-37517600	Weak transcription	Fetal Intestine Large	intestine
45	chr5:37499200-37518200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr5:37499200-37519200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr5:37499200-37535800	Weak transcription	Fetal Lung	lung
48	chr5:37499800-37518000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr5:37499800-37518000	Weak transcription	Fetal Intestine Small	intestine
50	chr5:37500600-37518200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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