Variant report

Variant	rs72753937
Chromosome Location	chr15:83402601-83402602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:83356917..83359124-chr15:83401843..83404031,2	K562	blood:
2	chr15:83400639..83403805-chr15:83416232..83419721,4	K562	blood:
3	chr15:83399840..83403032-chr15:83415971..83419863,4	MCF-7	breast:
4	chr15:83397915..83402775-chr15:83404352..83408497,6	K562	blood:
5	chr15:83395272..83399717-chr15:83401621..83404173,4	K562	blood:

Variant related genes	Relation type
ENSG00000250988	Chromatin interaction
ENSG00000259315	Chromatin interaction
ENSG00000266697	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs55698109	1.00[EUR][1000 genomes]
rs55700126	1.00[EUR][1000 genomes]
rs55732481	1.00[EUR][1000 genomes]
rs55765708	1.00[EUR][1000 genomes]
rs55769553	1.00[EUR][1000 genomes]
rs55898630	1.00[EUR][1000 genomes]
rs56144034	1.00[EUR][1000 genomes]
rs56261932	1.00[EUR][1000 genomes]
rs56402538	1.00[EUR][1000 genomes]
rs72751631	1.00[EUR][1000 genomes]
rs72751636	1.00[EUR][1000 genomes]
rs72751640	1.00[EUR][1000 genomes]
rs72751642	1.00[EUR][1000 genomes]
rs72751644	1.00[EUR][1000 genomes]
rs72751649	1.00[EUR][1000 genomes]
rs72751653	1.00[EUR][1000 genomes]
rs72751654	1.00[EUR][1000 genomes]
rs72751658	1.00[EUR][1000 genomes]
rs72751659	1.00[EUR][1000 genomes]
rs72751663	1.00[EUR][1000 genomes]
rs72751664	1.00[EUR][1000 genomes]
rs72751669	1.00[EUR][1000 genomes]
rs72751670	1.00[EUR][1000 genomes]
rs72751671	1.00[EUR][1000 genomes]
rs72751674	1.00[EUR][1000 genomes]
rs72751678	1.00[EUR][1000 genomes]
rs72751679	1.00[EUR][1000 genomes]
rs72751681	1.00[EUR][1000 genomes]
rs72751682	1.00[EUR][1000 genomes]
rs72751683	1.00[EUR][1000 genomes]
rs72751685	1.00[EUR][1000 genomes]
rs72751688	1.00[EUR][1000 genomes]
rs72751689	1.00[EUR][1000 genomes]
rs72751692	1.00[EUR][1000 genomes]
rs72751697	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72751698	1.00[EUR][1000 genomes]
rs72751699	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72751701	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72753903	1.00[EUR][1000 genomes]
rs72753904	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72753907	1.00[EUR][1000 genomes]
rs72753912	1.00[EUR][1000 genomes]
rs72753917	1.00[EUR][1000 genomes]
rs72753920	1.00[EUR][1000 genomes]
rs72753923	1.00[EUR][1000 genomes]
rs72753927	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72753928	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72753929	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72753933	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72753936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753940	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72753941	1.00[AMR][1000 genomes]
rs72753942	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72753946	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72753949	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72753951	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72753953	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72753954	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72753960	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73443047	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054171	chr15:83237514-83468077	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1036950	chr15:83245326-83461261	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1036462	chr15:83245326-83472507	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv34318	chr15:83283555-83453495	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv1039021	chr15:83283994-83431548	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv3493740	chr15:83295897-83458896	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	esv3493739	chr15:83296247-83458846	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	esv3493738	chr15:83296905-83457854	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	esv3493742	chr15:83296993-83457792	Weak transcription Active TSS Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv817702	chr15:83299461-83457424	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	esv3413738	chr15:83390947-83422928	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83393600-83406600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr15:83393800-83418400	Weak transcription	Thymus	Thymus
3	chr15:83394200-83404600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr15:83394400-83418200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr15:83394400-83418400	Weak transcription	Primary B cells from cord blood	blood
6	chr15:83394600-83407200	Weak transcription	HSMMtube	muscle
7	chr15:83394800-83418400	Weak transcription	Brain Angular Gyrus	brain
8	chr15:83395600-83407600	Weak transcription	Spleen	Spleen
9	chr15:83395800-83418200	Weak transcription	GM12878-XiMat	blood
10	chr15:83396000-83403800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr15:83396200-83403600	Weak transcription	Liver	Liver
12	chr15:83396200-83417800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr15:83396600-83418200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr15:83397400-83403800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr15:83397600-83403600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:83397600-83410600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr15:83398000-83409200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr15:83398200-83405600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:83398400-83403600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr15:83398400-83418200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr15:83399200-83418000	Weak transcription	Left Ventricle	heart
22	chr15:83399600-83410600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:83399800-83408400	Weak transcription	Ovary	ovary
24	chr15:83399800-83413400	Weak transcription	Lung	lung
25	chr15:83399800-83418400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr15:83399800-83418400	Weak transcription	Adipose Nuclei	Adipose
27	chr15:83400000-83407600	Weak transcription	HSMM	muscle
28	chr15:83400400-83418400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr15:83401200-83407400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr15:83401200-83418400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr15:83401600-83405800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr15:83401600-83406200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr15:83401800-83410200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr15:83402000-83418200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr15:83402200-83403800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr15:83402200-83406400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr15:83402200-83407000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr15:83402200-83411200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr15:83402400-83403800	Weak transcription	Primary T cells from cord blood	blood
40	chr15:83402400-83407000	Weak transcription	Fetal Stomach	stomach
41	chr15:83402400-83412800	Weak transcription	Fetal Muscle Leg	muscle
42	chr15:83402400-83418200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:83402600-83404600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr15:83402600-83405800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:83402600-83407800	Weak transcription	Osteobl	bone
46	chr15:83402600-83418200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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