Variant report

Variant	rs73749069
Chromosome Location	chr5:37574909-37574910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:37574620..37576476-chr5:37584938..37587005,2	K562	blood:
2	chr5:37565296..37570234-chr5:37571928..37578079,8	K562	blood:
3	chr5:37572624..37576201-chr5:37577602..37583153,5	K562	blood:

Extended variants
information (count: 70 )
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]
rs56347315	1.00[AFR][1000 genomes];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]
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:26 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	nsv1028838	chr5:37538075-37583196	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	nsv881497	chr5:37539060-37604856	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37540000-37621000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:37554800-37575400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:37555000-37616200	Weak transcription	Aorta	Aorta
4	chr5:37559800-37590000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:37562400-37575600	Weak transcription	K562	blood
6	chr5:37567800-37575600	Weak transcription	Small Intestine	intestine
7	chr5:37568200-37578400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr5:37568400-37577000	Weak transcription	HSMMtube	muscle
9	chr5:37568400-37577200	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:37568400-37582200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:37569200-37575400	Weak transcription	Pancreas	Pancrea
12	chr5:37569200-37578200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:37569400-37575800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr5:37570600-37575600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr5:37571800-37583000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr5:37572200-37575000	Weak transcription	Placenta	Placenta
17	chr5:37572200-37592800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:37572200-37620600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:37572400-37576600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:37572400-37577200	Weak transcription	Hela-S3	cervix
21	chr5:37572800-37575600	Weak transcription	Left Ventricle	heart
22	chr5:37572800-37592200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:37573400-37590600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr5:37574000-37579400	Enhancers	Fetal Intestine Small	intestine
25	chr5:37574200-37579400	Enhancers	Fetal Intestine Large	intestine
26	chr5:37574400-37575600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:37574400-37581800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr5:37574400-37590000	Weak transcription	Adipose Nuclei	Adipose
29	chr5:37574600-37575400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr5:37574600-37577400	Weak transcription	Psoas Muscle	Psoas
31	chr5:37574600-37584800	Weak transcription	Primary T cells from cord blood	blood
32	chr5:37574600-37587000	Weak transcription	Primary B cells from cord blood	blood
33	chr5:37574800-37575000	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr5:37574800-37575800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr5:37574800-37575800	Weak transcription	HepG2	liver
36	chr5:37574800-37588400	Weak transcription	Ovary	ovary

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