Variant report

Variant	rs72791727
Chromosome Location	chr10:38129909-38129910
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	chr10:38125960..38130211-chr10:38145750..38148095,4	MCF-7	breast:
2	chr10:38123769..38125348-chr10:38128323..38130587,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198105	Chromatin interaction
ENSG00000236514	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12265979	0.96[ASN][1000 genomes]
rs2247535	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2295647	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2474540	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2504138	0.86[AMR][1000 genomes]
rs2504147	0.86[EUR][1000 genomes]
rs55637824	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56343162	0.80[EUR][1000 genomes]
rs58379893	0.83[EUR][1000 genomes]
rs58906790	0.81[EUR][1000 genomes]
rs60211584	0.86[AMR][1000 genomes]
rs68087889	0.86[ASN][1000 genomes]
rs72789877	0.83[EUR][1000 genomes]
rs72789892	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72789899	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72791703	0.85[EUR][1000 genomes]
rs72791720	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72791726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72791730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72791791	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72793732	0.86[AMR][1000 genomes]
rs72793734	0.86[AMR][1000 genomes]
rs7906186	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised 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	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS 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 miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription 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 miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38114400-38130000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
2	chr10:38115600-38138200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:38115800-38132200	ZNF genes & repeats	Fetal Brain Female	brain
4	chr10:38116200-38137800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr10:38116600-38135800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
6	chr10:38117400-38131600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr10:38121200-38131200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:38122200-38134400	Weak transcription	Hela-S3	cervix
9	chr10:38123000-38144400	Weak transcription	NHEK	skin
10	chr10:38124000-38144400	Weak transcription	NH-A	brain
11	chr10:38125200-38144400	Weak transcription	Psoas Muscle	Psoas
12	chr10:38125600-38130000	Strong transcription	Ovary	ovary
13	chr10:38125600-38142800	Weak transcription	NHDF-Ad	bronchial
14	chr10:38125800-38132200	Strong transcription	Dnd41	blood
15	chr10:38125800-38143200	Weak transcription	HepG2	liver
16	chr10:38125800-38144400	Weak transcription	HMEC	breast
17	chr10:38126600-38145600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr10:38126800-38130200	Weak transcription	NHLF	lung
19	chr10:38126800-38134600	Weak transcription	Stomach Mucosa	stomach
20	chr10:38126800-38144800	Weak transcription	Thymus	Thymus
21	chr10:38127000-38131200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr10:38127000-38131200	Weak transcription	Fetal Stomach	stomach
23	chr10:38127000-38131400	Weak transcription	Aorta	Aorta
24	chr10:38127000-38131600	Weak transcription	Right Ventricle	heart
25	chr10:38127000-38131600	Weak transcription	Small Intestine	intestine
26	chr10:38127000-38132000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr10:38127000-38134000	Weak transcription	Spleen	Spleen
28	chr10:38127000-38134800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:38127000-38134800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr10:38127000-38135000	Weak transcription	Lung	lung
31	chr10:38127000-38135400	Weak transcription	Esophagus	oesophagus
32	chr10:38127000-38142800	Weak transcription	Colon Smooth Muscle	Colon
33	chr10:38127000-38143600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr10:38127000-38143600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr10:38127000-38143800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr10:38127000-38144200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr10:38127000-38144400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr10:38127000-38144400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr10:38127000-38144400	Weak transcription	HSMMtube	muscle
40	chr10:38127000-38144600	Weak transcription	K562	blood
41	chr10:38127000-38145200	Weak transcription	Gastric	stomach
42	chr10:38127000-38145600	Weak transcription	Colonic Mucosa	Colon
43	chr10:38127200-38135400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr10:38127200-38143000	Weak transcription	Brain Hippocampus Middle	brain
45	chr10:38127200-38144400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr10:38127200-38144400	Weak transcription	Osteobl	bone
47	chr10:38127200-38145800	Weak transcription	Placenta	Placenta
48	chr10:38127400-38131400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr10:38127400-38131800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr10:38127400-38134600	Weak transcription	Fetal Heart	heart

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