Variant report

Variant	rs72753942
Chromosome Location	chr15:83417210-83417211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83377715..83379913-chr15:83416850..83419570,2	K562	blood:
2	chr15:83366312..83369718-chr15:83416708..83419690,4	MCF-7	breast:
3	chr15:83376531..83379793-chr15:83416772..83420723,7	MCF-7	breast:
4	chr15:83417131..83419206-chr15:83515270..83517516,2	K562	blood:
5	chr15:83346733..83351654-chr15:83416978..83420559,7	MCF-7	breast:
6	chr15:83347146..83349993-chr15:83416756..83419846,3	K562	blood:
7	chr15:83313668..83318129-chr15:83416864..83421207,8	K562	blood:
8	chr15:83317439..83319648-chr15:83417162..83421021,3	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WHAMM-3	chr15:83415981-83418056	NONHSAT047858

No data

Variant related genes	Relation type
ENSG00000214575	Chromatin interaction
ENSG00000103723	Chromatin interaction
ENSG00000259462	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	0.91[EUR][1000 genomes]
rs55700126	0.91[EUR][1000 genomes]
rs55732481	0.91[EUR][1000 genomes]
rs55765708	0.91[EUR][1000 genomes]
rs55769553	0.91[EUR][1000 genomes]
rs55898630	0.91[EUR][1000 genomes]
rs56144034	0.91[EUR][1000 genomes]
rs56261932	0.91[EUR][1000 genomes]
rs56402538	0.91[EUR][1000 genomes]
rs72751631	0.91[EUR][1000 genomes]
rs72751636	0.91[EUR][1000 genomes]
rs72751640	0.91[EUR][1000 genomes]
rs72751642	0.91[EUR][1000 genomes]
rs72751644	0.91[EUR][1000 genomes]
rs72751649	0.91[EUR][1000 genomes]
rs72751653	0.91[EUR][1000 genomes]
rs72751654	0.91[EUR][1000 genomes]
rs72751658	0.91[EUR][1000 genomes]
rs72751659	0.91[EUR][1000 genomes]
rs72751663	0.91[EUR][1000 genomes]
rs72751664	0.91[EUR][1000 genomes]
rs72751669	0.91[EUR][1000 genomes]
rs72751670	0.91[EUR][1000 genomes]
rs72751671	0.91[EUR][1000 genomes]
rs72751674	0.91[EUR][1000 genomes]
rs72751678	0.91[EUR][1000 genomes]
rs72751679	0.91[EUR][1000 genomes]
rs72751681	0.91[EUR][1000 genomes]
rs72751682	0.91[EUR][1000 genomes]
rs72751683	0.91[EUR][1000 genomes]
rs72751685	0.91[EUR][1000 genomes]
rs72751688	0.91[EUR][1000 genomes]
rs72751689	0.91[EUR][1000 genomes]
rs72751692	0.91[EUR][1000 genomes]
rs72751697	0.91[EUR][1000 genomes]
rs72751698	0.91[EUR][1000 genomes]
rs72751699	0.91[EUR][1000 genomes]
rs72751701	0.91[EUR][1000 genomes]
rs72753903	0.91[EUR][1000 genomes]
rs72753904	0.91[EUR][1000 genomes]
rs72753907	0.91[EUR][1000 genomes]
rs72753912	0.91[EUR][1000 genomes]
rs72753917	0.91[EUR][1000 genomes]
rs72753920	0.91[EUR][1000 genomes]
rs72753923	0.91[EUR][1000 genomes]
rs72753927	0.91[EUR][1000 genomes]
rs72753928	0.91[EUR][1000 genomes]
rs72753929	0.91[EUR][1000 genomes]
rs72753933	0.91[EUR][1000 genomes]
rs72753936	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72753937	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72753940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753941	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72753946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73443047	0.91[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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83393800-83418400	Weak transcription	Thymus	Thymus
2	chr15:83394400-83418200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr15:83394400-83418400	Weak transcription	Primary B cells from cord blood	blood
4	chr15:83394800-83418400	Weak transcription	Brain Angular Gyrus	brain
5	chr15:83395800-83418200	Weak transcription	GM12878-XiMat	blood
6	chr15:83396200-83417800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr15:83396600-83418200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr15:83398400-83418200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr15:83399200-83418000	Weak transcription	Left Ventricle	heart
10	chr15:83399800-83418400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr15:83399800-83418400	Weak transcription	Adipose Nuclei	Adipose
12	chr15:83400400-83418400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr15:83401200-83418400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr15:83402000-83418200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr15:83402400-83418200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:83402600-83418200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr15:83402800-83418200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr15:83404000-83418000	Weak transcription	Dnd41	blood
19	chr15:83405200-83418400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr15:83405400-83418600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr15:83406400-83418200	Weak transcription	Liver	Liver
22	chr15:83406800-83418400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:83407200-83418200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr15:83407400-83418400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr15:83407600-83418000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:83407600-83418200	Weak transcription	Primary T cells from cord blood	blood
27	chr15:83407800-83418400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr15:83408600-83418200	Weak transcription	HSMM	muscle
29	chr15:83411000-83418200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr15:83411600-83418400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr15:83415400-83418400	Weak transcription	Colon Smooth Muscle	Colon
32	chr15:83416200-83418000	Weak transcription	Pancreas	Pancrea
33	chr15:83416600-83418800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:83416800-83418000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:83417000-83417600	Weak transcription	K562	blood
36	chr15:83417200-83418400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr15:83417200-83418400	Weak transcription	Right Atrium	heart

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