Variant report

Variant	rs72881959
Chromosome Location	chr2:172643837-172643838
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172636565..172640348-chr2:172640968..172644401,3	MCF-7	breast:
2	chr2:172642743..172644911-chr2:172668781..172670774,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17499544	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17499593	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55681218	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs56049564	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62181740	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62181741	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62181743	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62182368	0.90[ASN][1000 genomes]
rs62182401	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62182404	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62182425	0.81[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172593200-172645000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:172603000-172688400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:172610200-172651400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:172621000-172648000	Weak transcription	HSMMtube	muscle
5	chr2:172633400-172646200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:172635400-172647600	Weak transcription	NHDF-Ad	bronchial
7	chr2:172635400-172654800	Weak transcription	A549	lung
8	chr2:172635600-172654600	Weak transcription	Liver	Liver
9	chr2:172636800-172654800	Weak transcription	Small Intestine	intestine
10	chr2:172638000-172650200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:172638200-172645000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:172638600-172644600	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:172638600-172645600	Strong transcription	Primary B cells from cord blood	blood
14	chr2:172638600-172648400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:172638600-172650600	Strong transcription	Stomach Smooth Muscle	stomach
16	chr2:172638800-172644800	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr2:172638800-172645400	Strong transcription	Adipose Nuclei	Adipose
18	chr2:172638800-172648400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:172638800-172650400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr2:172638800-172650800	Strong transcription	Primary T cells from cord blood	blood
21	chr2:172638800-172650800	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:172638800-172651000	Strong transcription	Dnd41	blood
23	chr2:172639000-172644400	Strong transcription	Fetal Brain Female	brain
24	chr2:172639200-172648400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:172639200-172650200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr2:172639200-172650800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:172639600-172645600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:172639600-172648400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:172639800-172650200	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr2:172639800-172650600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:172640000-172644400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:172640000-172644400	Strong transcription	Brain Substantia Nigra	brain
33	chr2:172640000-172644400	Strong transcription	Esophagus	oesophagus
34	chr2:172640000-172644400	Strong transcription	Osteobl	bone
35	chr2:172640000-172644600	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr2:172640000-172645000	Strong transcription	Fetal Muscle Leg	muscle
37	chr2:172640000-172645200	Strong transcription	Ovary	ovary
38	chr2:172640000-172645400	Strong transcription	Brain Germinal Matrix	brain
39	chr2:172640000-172646600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:172640000-172648400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:172640000-172648400	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr2:172640000-172650400	Strong transcription	Fetal Muscle Trunk	muscle
43	chr2:172640000-172650400	Strong transcription	Fetal Thymus	thymus
44	chr2:172640000-172651400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:172640200-172644200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:172640200-172644400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:172640200-172644400	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr2:172640200-172644400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:172640200-172645200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:172640200-172645200	Strong transcription	Sigmoid Colon	Sigmoid Colon

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