Variant report

Variant	rs73063799
Chromosome Location	chr5:37628915-37628916
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	chr5:37628723..37630359-chr5:37632589..37634816,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs16903702	1.00[AMR][1000 genomes]
rs16903707	1.00[AMR][1000 genomes]
rs16903717	1.00[AMR][1000 genomes]
rs57810602	1.00[AMR][1000 genomes]
rs57947315	1.00[AMR][1000 genomes]
rs59289853	0.84[AFR][1000 genomes]
rs59785719	1.00[AMR][1000 genomes]
rs59975130	1.00[AMR][1000 genomes]
rs60584289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60854599	0.84[AFR][1000 genomes]
rs60971228	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61421708	0.84[AFR][1000 genomes]
rs61573892	1.00[AMR][1000 genomes]
rs6862947	1.00[AMR][1000 genomes]
rs6898181	1.00[AMR][1000 genomes]
rs73061728	1.00[AMR][1000 genomes]
rs73061742	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73061751	1.00[AMR][1000 genomes]
rs73061771	1.00[AMR][1000 genomes]
rs73061776	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73061780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063791	1.00[AFR][1000 genomes]
rs73063800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73065617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73065632	1.00[AMR][1000 genomes]
rs73065634	1.00[AMR][1000 genomes]
rs73065654	1.00[AMR][1000 genomes]
rs73067718	1.00[AMR][1000 genomes]
rs73067721	1.00[AMR][1000 genomes]
rs73067725	1.00[AMR][1000 genomes]
rs73067728	1.00[AMR][1000 genomes]
rs73074108	0.84[AFR][1000 genomes]
rs73074115	0.84[AFR][1000 genomes]
rs7704010	1.00[AMR][1000 genomes]
rs7724612	1.00[AMR][1000 genomes]
rs9686445	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37602000-37630800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:37604800-37630400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:37606200-37629000	Weak transcription	Fetal Thymus	thymus
4	chr5:37606400-37637800	Weak transcription	Esophagus	oesophagus
5	chr5:37613800-37637600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:37616200-37630200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:37616200-37639400	Weak transcription	Fetal Heart	heart
8	chr5:37618600-37629200	Weak transcription	Fetal Intestine Large	intestine
9	chr5:37619400-37632000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:37619600-37629000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:37619800-37629200	Weak transcription	Osteobl	bone
12	chr5:37619800-37630800	Weak transcription	Gastric	stomach
13	chr5:37620200-37629200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:37625000-37636800	Weak transcription	Colonic Mucosa	Colon
15	chr5:37626200-37630600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:37626600-37630200	Weak transcription	Pancreas	Pancrea
17	chr5:37627200-37629200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:37627200-37629200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:37627200-37629600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
20	chr5:37627400-37629600	ZNF genes & repeats	Primary B cells from cord blood	blood
21	chr5:37627400-37629600	ZNF genes & repeats	Primary T cells from cord blood	blood
22	chr5:37627400-37629600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
23	chr5:37627400-37630200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
24	chr5:37627600-37629600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr5:37627800-37629400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:37628000-37630400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:37628200-37629600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
28	chr5:37628200-37630200	Weak transcription	Lung	lung
29	chr5:37628400-37630200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:37628400-37630200	Weak transcription	Left Ventricle	heart
31	chr5:37628400-37630400	Weak transcription	Psoas Muscle	Psoas
32	chr5:37628400-37631000	Weak transcription	Ovary	ovary
33	chr5:37628600-37629000	ZNF genes & repeats	Brain Hippocampus Middle	brain
34	chr5:37628800-37629200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
35	chr5:37628800-37629600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:37628800-37629600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
37	chr5:37628800-37629800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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