Variant report

Variant	rs72787721
Chromosome Location	chr2:30489411-30489412
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30452974..30456196-chr2:30487344..30491801,6	K562	blood:
2	chr2:30486455..30489826-chr2:30493226..30495888,3	K562	blood:
3	chr2:30453227..30456003-chr2:30488280..30494141,6	K562	blood:
4	chr2:30483037..30484827-chr2:30488803..30490387,2	K562	blood:
5	chr2:30474584..30477299-chr2:30489169..30490893,2	K562	blood:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1001204	0.94[EUR][1000 genomes]
rs10171296	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171305	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678385	0.82[ASN][1000 genomes]
rs13386455	0.95[EUR][1000 genomes]
rs13389106	0.90[EUR][1000 genomes]
rs17009304	0.95[EUR][1000 genomes]
rs17009315	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17321999	0.95[EUR][1000 genomes]
rs1962588	0.89[EUR][1000 genomes]
rs2089657	0.90[EUR][1000 genomes]
rs3817143	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952115	0.95[EUR][1000 genomes]
rs57667995	0.82[ASN][1000 genomes]
rs59693338	0.91[EUR][1000 genomes]
rs6548005	0.95[EUR][1000 genomes]
rs6708792	0.91[EUR][1000 genomes]
rs6732241	0.95[EUR][1000 genomes]
rs72787716	0.89[EUR][1000 genomes]
rs72787719	0.92[EUR][1000 genomes]
rs72787722	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787724	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73925103	0.92[EUR][1000 genomes]
rs7604484	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs906865	0.90[EUR][1000 genomes]
rs906867	0.94[EUR][1000 genomes]
rs9309678	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9558	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9967884	0.81[EUR][1000 genomes];0.90[ASN][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv2662	chr2:30462905-30495134	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30476600-30496000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:30481400-30489800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:30482000-30489600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:30482400-30491400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:30487000-30490600	Enhancers	Fetal Intestine Small	intestine
6	chr2:30487200-30491600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:30487200-30517800	Enhancers	Primary B cells from peripheral blood	blood
8	chr2:30487600-30489600	Weak transcription	Fetal Lung	lung
9	chr2:30487800-30489600	Weak transcription	Fetal Intestine Large	intestine
10	chr2:30488000-30492000	Enhancers	Primary B cells from cord blood	blood
11	chr2:30488200-30490000	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr2:30488200-30490000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr2:30488400-30489600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:30488400-30489600	Enhancers	NHLF	lung
15	chr2:30488400-30489800	Enhancers	Right Atrium	heart
16	chr2:30488400-30489800	Enhancers	HSMM	muscle
17	chr2:30488400-30490000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr2:30488400-30490000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:30488400-30490000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:30488400-30490200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:30488400-30490200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr2:30488400-30490200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:30488400-30490200	Enhancers	Left Ventricle	heart
24	chr2:30488400-30490200	Enhancers	Lung	lung
25	chr2:30488400-30490200	Enhancers	NH-A	brain
26	chr2:30488400-30490400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:30488400-30490400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:30488400-30490400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:30488400-30490600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr2:30488400-30491200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr2:30488400-30491800	Enhancers	A549	lung
32	chr2:30488400-30494600	Enhancers	Fetal Thymus	thymus
33	chr2:30488600-30490400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:30488800-30489800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr2:30488800-30489800	Enhancers	HUVEC	blood vessel
36	chr2:30488800-30489800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr2:30488800-30490200	Enhancers	Primary hematopoietic stem cells	blood
38	chr2:30488800-30490400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr2:30488800-30498400	Enhancers	Fetal Heart	heart
40	chr2:30489000-30489600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:30489000-30489600	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr2:30489000-30489600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:30489000-30489600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:30489000-30489600	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr2:30489000-30489600	Enhancers	Pancreas	Pancrea
46	chr2:30489000-30489600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr2:30489000-30489600	Flanking Active TSS	Hela-S3	cervix
48	chr2:30489000-30489800	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr2:30489000-30489800	Enhancers	Fetal Muscle Trunk	muscle
50	chr2:30489000-30489800	Enhancers	Rectal Mucosa Donor 31	rectum

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