Variant report

Variant	rs72906407
Chromosome Location	chr2:54874645-54874646
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11888386	1.00[EUR][1000 genomes]
rs17046281	1.00[EUR][1000 genomes]
rs57381328	1.00[EUR][1000 genomes]
rs57623434	1.00[EUR][1000 genomes]
rs57749522	1.00[EUR][1000 genomes]
rs58833605	1.00[EUR][1000 genomes]
rs58920119	1.00[EUR][1000 genomes]
rs59039394	1.00[EUR][1000 genomes]
rs60282658	1.00[EUR][1000 genomes]
rs60410507	1.00[EUR][1000 genomes]
rs6705313	1.00[EUR][1000 genomes]
rs6714663	1.00[EUR][1000 genomes]
rs6740557	1.00[EUR][1000 genomes]
rs6743161	1.00[EUR][1000 genomes]
rs6751570	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72906405	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72906419	1.00[EUR][1000 genomes]
rs72906421	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72906425	1.00[EUR][1000 genomes]
rs72906426	1.00[EUR][1000 genomes]
rs72911566	1.00[EUR][1000 genomes]
rs72911570	1.00[EUR][1000 genomes]
rs72911573	1.00[EUR][1000 genomes]
rs72913540	1.00[EUR][1000 genomes]
rs72913543	1.00[EUR][1000 genomes]
rs72913547	1.00[EUR][1000 genomes]
rs72913549	1.00[EUR][1000 genomes]
rs72913551	1.00[EUR][1000 genomes]
rs72915537	1.00[EUR][1000 genomes]
rs72915543	1.00[EUR][1000 genomes]
rs72915544	1.00[EUR][1000 genomes]
rs72915554	1.00[EUR][1000 genomes]
rs72915563	1.00[EUR][1000 genomes]
rs72915572	1.00[EUR][1000 genomes]
rs72915587	1.00[EUR][1000 genomes]
rs72915590	1.00[EUR][1000 genomes]
rs72917518	1.00[EUR][1000 genomes]
rs72917541	1.00[EUR][1000 genomes]
rs72917550	1.00[EUR][1000 genomes]
rs72917571	1.00[EUR][1000 genomes]
rs72918782	1.00[EUR][1000 genomes]
rs72918788	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72920524	1.00[EUR][1000 genomes]
rs72920525	1.00[EUR][1000 genomes]
rs72920549	1.00[EUR][1000 genomes]
rs72920550	1.00[EUR][1000 genomes]
rs72920563	1.00[EUR][1000 genomes]
rs72920576	1.00[EUR][1000 genomes]
rs7572839	1.00[EUR][1000 genomes]
rs7580158	1.00[EUR][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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54838800-54893400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:54839400-54895000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:54841200-54897800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:54842600-54892000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:54846400-54895600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:54846400-54896600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:54846600-54898000	Strong transcription	Dnd41	blood
8	chr2:54846800-54895400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:54848600-54892400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:54857000-54883400	Strong transcription	Hela-S3	cervix
11	chr2:54861800-54898600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:54862200-54896600	Strong transcription	Primary hematopoietic stem cells	blood
13	chr2:54862400-54892800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:54862600-54892400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:54862600-54892400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:54862600-54893400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:54862600-54898400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr2:54863000-54892000	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr2:54863000-54892200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:54863000-54892400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:54863000-54895000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr2:54863000-54898600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:54863000-54899400	Strong transcription	Primary T cells from cord blood	blood
24	chr2:54863200-54886200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:54863600-54879400	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr2:54863600-54897000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:54863800-54897400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:54863800-54898600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:54864200-54885400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:54864200-54885400	Strong transcription	NH-A	brain
31	chr2:54864200-54893600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr2:54865200-54879400	Strong transcription	Thymus	Thymus
33	chr2:54865400-54892800	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:54865400-54898400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr2:54865800-54898200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:54866000-54892800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr2:54866200-54884800	Strong transcription	Adipose Nuclei	Adipose
38	chr2:54866400-54878400	Strong transcription	GM12878-XiMat	blood
39	chr2:54866400-54892400	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr2:54866400-54897200	Strong transcription	Primary B cells from cord blood	blood
41	chr2:54867200-54879600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:54867200-54884800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:54867200-54884800	Strong transcription	HSMM	muscle
44	chr2:54867200-54885000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:54867200-54892200	Strong transcription	HSMMtube	muscle
46	chr2:54867200-54892400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:54867200-54892400	Strong transcription	NHEK	skin
48	chr2:54867200-54892800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:54867200-54892800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:54867200-54897800	Strong transcription	Primary B cells from peripheral blood	blood

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