Variant report

Variant	rs10053688
Chromosome Location	chr5:37522014-37522015
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10039671	1.00[AMR][1000 genomes]
rs10041819	0.89[AMR][1000 genomes]
rs10043479	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10044858	0.89[AMR][1000 genomes]
rs10054907	1.00[AMR][1000 genomes]
rs10054979	1.00[AMR][1000 genomes]
rs10057290	0.89[AMR][1000 genomes]
rs10057432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10057617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10061422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10063753	1.00[AMR][1000 genomes]
rs10065144	1.00[AMR][1000 genomes]
rs10071775	0.89[AMR][1000 genomes]
rs10075873	0.89[AMR][1000 genomes]
rs10223225	0.89[AMR][1000 genomes]
rs10223294	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10473056	1.00[AMR][1000 genomes]
rs13357561	0.87[AMR][1000 genomes]
rs13436170	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35796036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6863019	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6874531	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6884786	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73061755	0.89[AMR][1000 genomes]
rs7711100	1.00[AMR][1000 genomes]
rs7728951	0.89[AMR][1000 genomes]
rs9292657	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 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	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
33	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
34	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

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37483000-37525400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr5:37489000-37548400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr5:37493600-37522800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:37496200-37533200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:37496600-37541000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:37499200-37535800	Weak transcription	Fetal Lung	lung
7	chr5:37504000-37533000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:37507000-37533000	Weak transcription	Adipose Nuclei	Adipose
9	chr5:37513600-37535800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:37513800-37532600	Weak transcription	Primary T cells from cord blood	blood
11	chr5:37517200-37523600	Weak transcription	K562	blood
12	chr5:37517800-37523000	Weak transcription	HUVEC	blood vessel
13	chr5:37518600-37522200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:37518600-37533000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr5:37518800-37523400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:37518800-37523400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:37518800-37537800	Weak transcription	Dnd41	blood
18	chr5:37519600-37522200	Weak transcription	Fetal Stomach	stomach
19	chr5:37519600-37525400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr5:37519600-37529600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:37519600-37535600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:37519600-37541000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr5:37519800-37522200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:37519800-37524600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:37519800-37533000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:37519800-37533000	Weak transcription	Ovary	ovary
27	chr5:37519800-37533000	Weak transcription	Pancreas	Pancrea
28	chr5:37519800-37533200	Weak transcription	Aorta	Aorta
29	chr5:37519800-37533200	Weak transcription	Lung	lung
30	chr5:37519800-37533200	Weak transcription	Thymus	Thymus
31	chr5:37519800-37533800	Weak transcription	Gastric	stomach
32	chr5:37519800-37534800	Weak transcription	Right Ventricle	heart
33	chr5:37519800-37535200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:37519800-37553600	Weak transcription	Left Ventricle	heart
35	chr5:37520000-37522200	Weak transcription	Fetal Intestine Small	intestine
36	chr5:37520000-37524000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:37520000-37533000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:37520000-37533000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:37520000-37540400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:37520000-37541600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:37520200-37533000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr5:37520400-37523600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr5:37520600-37522200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
44	chr5:37520800-37538400	Weak transcription	Colon Smooth Muscle	Colon
45	chr5:37521000-37522400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:37521200-37522200	ZNF genes & repeats	Primary B cells from cord blood	blood
47	chr5:37521200-37522400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:37521200-37528400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:37521200-37541400	Weak transcription	Liver	Liver
50	chr5:37521400-37522200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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