Variant report

Variant	rs72932358
Chromosome Location	chr2:86748857-86748858
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86748455..86750758-chr2:86791474..86793694,2	MCF-7	breast:
2	chr2:86650009..86651660-chr2:86747619..86749348,2	K562	blood:
3	chr2:86716403..86718930-chr2:86746920..86749136,2	K562	blood:
4	chr2:86747696..86749465-chr2:86789362..86790903,2	K562	blood:
5	chr2:86748582..86750245-chr2:86849760..86851732,2	MCF-7	breast:
6	chr2:86736546..86738980-chr2:86748664..86751290,2	K562	blood:

Variant related genes	Relation type
ENSG00000239305	Chromatin interaction
ENSG00000249884	Chromatin interaction
ENSG00000115561	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1030886	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1030887	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11127043	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11548929	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11890032	0.89[EUR][1000 genomes]
rs11891659	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11899532	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1437614	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1518808	0.91[EUR][1000 genomes]
rs1518810	0.89[EUR][1000 genomes]
rs1518812	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17027265	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17027270	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17027280	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027296	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34605051	0.89[EUR][1000 genomes]
rs34633268	0.91[EUR][1000 genomes]
rs55688177	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55708352	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55828608	0.91[EUR][1000 genomes]
rs56055358	0.89[EUR][1000 genomes]
rs56085540	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56169889	0.91[EUR][1000 genomes]
rs56211578	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56227180	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56242451	0.89[EUR][1000 genomes]
rs56347930	0.91[EUR][1000 genomes]
rs56378606	0.90[EUR][1000 genomes]
rs57291816	0.91[EUR][1000 genomes]
rs57836876	0.89[EUR][1000 genomes]
rs58091125	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58361202	0.91[EUR][1000 genomes]
rs58829418	0.89[EUR][1000 genomes]
rs59026369	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59183618	0.87[EUR][1000 genomes]
rs59255035	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59336972	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59521243	0.96[EUR][1000 genomes]
rs59613942	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59859947	0.96[EUR][1000 genomes]
rs59895355	0.96[EUR][1000 genomes]
rs60073472	0.96[EUR][1000 genomes]
rs60244636	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60304516	0.91[EUR][1000 genomes]
rs60717666	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60796561	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60810860	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61028062	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61465748	0.96[EUR][1000 genomes]
rs61547860	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6710780	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6720414	0.96[EUR][1000 genomes]
rs6740863	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6745875	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930315	0.91[EUR][1000 genomes]
rs72930323	0.91[EUR][1000 genomes]
rs72930336	0.91[EUR][1000 genomes]
rs72930340	0.91[EUR][1000 genomes]
rs72930349	0.91[EUR][1000 genomes]
rs72930361	0.91[EUR][1000 genomes]
rs72930362	0.91[EUR][1000 genomes]
rs72930364	0.91[EUR][1000 genomes]
rs72930369	0.91[EUR][1000 genomes]
rs72930387	0.89[EUR][1000 genomes]
rs72930396	0.87[EUR][1000 genomes]
rs72930400	0.87[EUR][1000 genomes]
rs72932307	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72932310	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72932311	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72932316	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72932319	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72932336	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72932350	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72932364	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72932369	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72932380	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73949838	0.90[EUR][1000 genomes]
rs73949839	0.90[EUR][1000 genomes]
rs7562493	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7585722	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7586028	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7604179	1.00[EUR][1000 genomes]
rs7608800	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86679800-86757000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:86726400-86753000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:86728200-86755800	Weak transcription	Fetal Brain Male	brain
4	chr2:86733000-86759400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:86733400-86758600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:86734000-86784800	Weak transcription	Osteobl	bone
7	chr2:86736400-86770600	Weak transcription	Brain Angular Gyrus	brain
8	chr2:86736800-86754400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:86737000-86752600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:86737000-86753000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:86737000-86754400	Weak transcription	NHDF-Ad	bronchial
12	chr2:86737000-86761200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:86737000-86772800	Weak transcription	Pancreas	Pancrea
14	chr2:86737200-86751600	Weak transcription	HSMM	muscle
15	chr2:86737400-86749000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:86737400-86753000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:86737400-86755400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:86737400-86756800	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:86737400-86757400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:86737400-86788400	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:86737600-86768400	Weak transcription	Ovary	ovary
22	chr2:86737800-86751800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:86737800-86752600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:86737800-86753000	Weak transcription	Placenta	Placenta
25	chr2:86737800-86753200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:86737800-86754400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:86737800-86755400	Weak transcription	Small Intestine	intestine
28	chr2:86737800-86756400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:86737800-86779600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:86738200-86756200	Weak transcription	Brain Substantia Nigra	brain
31	chr2:86738200-86772400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:86738200-86772600	Weak transcription	Right Ventricle	heart
33	chr2:86738400-86759000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:86740200-86753200	Weak transcription	HMEC	breast
35	chr2:86741400-86749600	Weak transcription	Aorta	Aorta
36	chr2:86741400-86754200	Weak transcription	Left Ventricle	heart
37	chr2:86741400-86768400	Weak transcription	Psoas Muscle	Psoas
38	chr2:86742400-86755600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:86744000-86755600	Weak transcription	Fetal Brain Female	brain
40	chr2:86746000-86753800	Weak transcription	Fetal Stomach	stomach
41	chr2:86746000-86754400	Weak transcription	HSMMtube	muscle
42	chr2:86746000-86768000	Weak transcription	Fetal Heart	heart
43	chr2:86746800-86749400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
44	chr2:86747000-86749200	ZNF genes & repeats	Dnd41	blood
45	chr2:86747000-86749400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
46	chr2:86747200-86749200	ZNF genes & repeats	Primary B cells from cord blood	blood
47	chr2:86747200-86749200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:86747200-86750400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr2:86747200-86753000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr2:86747400-86749800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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