Variant report

Variant	rs72999747
Chromosome Location	chr3:143270833-143270834
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	chr3:143264506..143266656-chr3:143269713..143272462,2	K562	blood:
2	chr3:143266899..143271350-chr3:143271454..143273544,4	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11922426	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34029020	1.00[AMR][1000 genomes]
rs59016370	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999717	0.91[AFR][1000 genomes]
rs72999725	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999726	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999743	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7626666	1.00[AMR][1000 genomes]
rs7642430	0.87[AFR][1000 genomes]
rs9755486	1.00[AMR][1000 genomes]
rs9755504	1.00[AMR][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	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv2757894	chr3:142992697-143285979	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759184	chr3:142992697-143285979	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143248400-143276800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr3:143255600-143276800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr3:143255800-143271800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:143256000-143305600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:143256600-143275000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr3:143256800-143277000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:143257200-143277800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:143258400-143271400	Weak transcription	Fetal Stomach	stomach
9	chr3:143262000-143279200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr3:143263200-143277000	Weak transcription	Gastric	stomach
11	chr3:143263800-143272200	Strong transcription	Primary T cells from cord blood	blood
12	chr3:143264000-143272000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:143265000-143277600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr3:143265600-143272200	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr3:143265800-143274200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr3:143267600-143277000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr3:143267800-143273000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr3:143268600-143271000	Weak transcription	Brain Angular Gyrus	brain
19	chr3:143269200-143271800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr3:143269400-143271200	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr3:143269600-143271000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr3:143269600-143271600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr3:143269800-143271000	Strong transcription	Brain Anterior Caudate	brain
24	chr3:143269800-143271000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr3:143269800-143277000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr3:143270000-143271000	Strong transcription	Liver	Liver
27	chr3:143270200-143271200	Enhancers	Dnd41	blood
28	chr3:143270400-143271000	Genic enhancers	Adipose Nuclei	Adipose
29	chr3:143270400-143277000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr3:143270600-143271400	Active TSS	Fetal Brain Male	brain
31	chr3:143270600-143271800	Weak transcription	Primary B cells from cord blood	blood
32	chr3:143270600-143272200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:143270600-143276200	Weak transcription	Fetal Muscle Leg	muscle
34	chr3:143270600-143304800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr3:143270800-143271000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:143270800-143271200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:143270800-143271600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr3:143270800-143271800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr3:143270800-143272200	Weak transcription	Brain Substantia Nigra	brain
40	chr3:143270800-143272600	Weak transcription	Spleen	Spleen
41	chr3:143270800-143272800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr3:143270800-143272800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr3:143270800-143273000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:143270800-143273400	Enhancers	Fetal Lung	lung
45	chr3:143270800-143273600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:143270800-143276800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr3:143270800-143276800	Weak transcription	Esophagus	oesophagus
48	chr3:143270800-143276800	Weak transcription	Ovary	ovary
49	chr3:143270800-143277000	Weak transcription	Brain Hippocampus Middle	brain

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