Variant report

Variant	rs72982591
Chromosome Location	chr3:140994075-140994076
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	chr3:140949685..140950639-chr3:140993821..140994433,2	MCF-7	breast:
2	chr3:140949328..140952346-chr3:140991131..140995521,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155893	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16851264	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16851277	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34601454	0.94[AFR][1000 genomes]
rs61618039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72982516	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72982519	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72982581	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72982585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72982588	1.00[AFR][1000 genomes];1.00[AMR][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	nsv460870	chr3:140938546-141005574	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv591892	chr3:140938546-141005574	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv877551	chr3:140970556-141029860	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	esv3336617	chr3:140992062-140995160	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140957400-141001000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:140959200-140998400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr3:140961200-141012600	Weak transcription	Aorta	Aorta
4	chr3:140978000-140998000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:140979000-141000800	Weak transcription	Fetal Kidney	kidney
6	chr3:140979000-141013200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr3:140980800-141005600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:140981000-140998400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:140981200-141013200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:140981200-141013400	Weak transcription	Colonic Mucosa	Colon
11	chr3:140981400-141001000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:140983600-141021600	Weak transcription	Esophagus	oesophagus
13	chr3:140984000-140997400	Weak transcription	Fetal Brain Female	brain
14	chr3:140984200-141000800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr3:140984600-140997600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:140984800-141006400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:140986200-140997600	Weak transcription	Brain Anterior Caudate	brain
18	chr3:140986200-140997600	Weak transcription	Brain Hippocampus Middle	brain
19	chr3:140986200-140997600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr3:140986200-140998000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:140986200-141000800	Weak transcription	Fetal Lung	lung
22	chr3:140986600-140994200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr3:140986600-140994400	Genic enhancers	Dnd41	blood
24	chr3:140986800-140997400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr3:140987200-140997400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:140987800-140997600	Weak transcription	HSMMtube	muscle
27	chr3:140988200-141022600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr3:140988400-141001800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:140990800-140998600	Weak transcription	Gastric	stomach
30	chr3:140991000-140996400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:140991000-140996800	Weak transcription	Fetal Intestine Large	intestine
32	chr3:140991000-140997400	Weak transcription	Right Atrium	heart
33	chr3:140991000-140997800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr3:140991000-140999600	Weak transcription	Pancreas	Pancrea
35	chr3:140991800-140994400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr3:140991800-140996800	Enhancers	Placenta	Placenta
37	chr3:140992000-140994400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr3:140992200-140997600	Weak transcription	Brain Angular Gyrus	brain
39	chr3:140992400-140994400	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr3:140992600-140995200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:140992800-140994200	Genic enhancers	Thymus	Thymus
42	chr3:140992800-140994400	Enhancers	Primary T cells fromperipheralblood	blood
43	chr3:140992800-140994400	Strong transcription	Fetal Intestine Small	intestine
44	chr3:140992800-140994600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr3:140992800-140994600	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr3:140992800-140994600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr3:140992800-140995600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:140992800-140995600	Enhancers	HMEC	breast
49	chr3:140992800-140995600	Enhancers	NHEK	skin
50	chr3:140993000-140994200	Enhancers	Primary T killer memory cells from peripheral blood	blood

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