Variant report

Variant	rs72787724
Chromosome Location	chr2:30491746-30491747
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	chr2:30453227..30456003-chr2:30488280..30494141,6	K562	blood:
3	chr2:30490451..30492862-chr2:30496665..30498912,2	K562	blood:
4	chr2:30478238..30481655-chr2:30491461..30496252,4	K562	blood:
5	chr2:30478723..30481419-chr2:30491461..30494029,3	K562	blood:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction
ENSG00000256261	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	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171305	0.88[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	1.00[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]
rs72787721	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787722	0.84[AMR][1000 genomes];0.99[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	0.90[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:60 , 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	chr2:30487200-30517800	Enhancers	Primary B cells from peripheral blood	blood
3	chr2:30488000-30492000	Enhancers	Primary B cells from cord blood	blood
4	chr2:30488400-30491800	Enhancers	A549	lung
5	chr2:30488400-30494600	Enhancers	Fetal Thymus	thymus
6	chr2:30488800-30498400	Enhancers	Fetal Heart	heart
7	chr2:30489400-30495800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:30489400-30496000	Weak transcription	Aorta	Aorta
9	chr2:30489600-30491800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:30489600-30495600	Weak transcription	Colonic Mucosa	Colon
11	chr2:30489800-30491800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr2:30489800-30494600	Weak transcription	HSMMtube	muscle
13	chr2:30489800-30495800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:30490000-30491800	Enhancers	Primary T cells from cord blood	blood
15	chr2:30490000-30491800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:30490000-30491800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:30490000-30492800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr2:30490000-30494600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr2:30490000-30495600	Weak transcription	Small Intestine	intestine
20	chr2:30490000-30495800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:30490000-30495800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:30490200-30492000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr2:30490200-30492800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:30490200-30492800	Weak transcription	Placenta	Placenta
25	chr2:30490200-30493000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:30490200-30493200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr2:30490200-30493200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr2:30490200-30493800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:30490200-30493800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:30490200-30495400	Weak transcription	NH-A	brain
31	chr2:30490200-30495600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:30490400-30491800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:30490400-30491800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr2:30490400-30491800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:30490400-30492200	Weak transcription	Spleen	Spleen
36	chr2:30490400-30493800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:30490400-30495400	Weak transcription	Fetal Intestine Large	intestine
38	chr2:30490400-30495400	Weak transcription	HSMM	muscle
39	chr2:30490400-30496400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:30490600-30492000	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr2:30490800-30493000	Enhancers	Esophagus	oesophagus
42	chr2:30490800-30493800	Weak transcription	K562	blood
43	chr2:30491000-30492000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr2:30491200-30491800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:30491200-30491800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:30491200-30491800	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr2:30491200-30492400	Enhancers	Lung	lung
48	chr2:30491200-30493000	Enhancers	Left Ventricle	heart
49	chr2:30491200-30493000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr2:30491400-30491800	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links