Variant report

Variant	rs72982516
Chromosome Location	chr3:140982705-140982706
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	chr3:140975090..140977469-chr3:140982354..140984207,2	K562	blood:
2	chr3:140981939..140984087-chr3:140988677..140991086,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241400	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs16851210	1.00[EUR][1000 genomes]
rs16851215	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16851264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16851277	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs34601454	0.87[AFR][1000 genomes]
rs61539616	1.00[EUR][1000 genomes]
rs61618039	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61710141	1.00[EUR][1000 genomes]
rs6773280	1.00[EUR][1000 genomes]
rs6779202	1.00[EUR][1000 genomes]
rs72982504	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72982505	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72982506	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72982513	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72982515	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72982519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72982581	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72982585	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72982588	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72982591	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72994972	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73869568	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140955400-140985800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr3:140957400-141001000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:140959200-140998400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:140961200-140985800	Weak transcription	Adipose Nuclei	Adipose
5	chr3:140961200-141012600	Weak transcription	Aorta	Aorta
6	chr3:140961400-140983200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr3:140962000-140985800	Weak transcription	Brain Anterior Caudate	brain
8	chr3:140963400-140982800	Weak transcription	Brain Germinal Matrix	brain
9	chr3:140966000-140990200	Weak transcription	Psoas Muscle	Psoas
10	chr3:140968200-140990000	Weak transcription	Gastric	stomach
11	chr3:140968400-140982800	Weak transcription	Fetal Lung	lung
12	chr3:140974800-140985800	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:140974800-140987400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:140974800-140991400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:140975000-140984800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:140975000-140985800	Weak transcription	Right Atrium	heart
17	chr3:140975000-140993400	Weak transcription	Lung	lung
18	chr3:140975000-140993400	Weak transcription	Spleen	Spleen
19	chr3:140975200-140984400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr3:140975200-140984800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr3:140975200-140985000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr3:140975200-140991800	Weak transcription	Placenta	Placenta
23	chr3:140975400-140983400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr3:140975400-140990200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr3:140975800-140983600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr3:140975800-140993200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:140976000-140983600	Weak transcription	Fetal Brain Female	brain
28	chr3:140976400-140987200	Weak transcription	Fetal Brain Male	brain
29	chr3:140976600-140985800	Weak transcription	Fetal Heart	heart
30	chr3:140977200-140985200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr3:140977800-140983200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr3:140977800-140990000	Weak transcription	Liver	Liver
33	chr3:140978000-140985600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr3:140978000-140998000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr3:140978200-140993600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:140978800-140986200	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr3:140978800-140988000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr3:140978800-140993000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr3:140979000-141000800	Weak transcription	Fetal Kidney	kidney
40	chr3:140979000-141013200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr3:140979400-140986600	Weak transcription	Colon Smooth Muscle	Colon
42	chr3:140979600-140984800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:140979600-140985400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:140979800-140982800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr3:140979800-140992800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:140980000-140984400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:140980000-140985400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:140980000-140985800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr3:140980200-140983400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:140980200-140985800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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