Variant report

Variant	rs7604484
Chromosome Location	chr2:30491556-30491557
allele	G/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: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1001204	0.95[EUR][1000 genomes]
rs10171296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171305	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1039835	1.00[CHB][hapmap]
rs1039836	1.00[CHB][hapmap]
rs10495774	1.00[GIH][hapmap]
rs11127264	1.00[CHB][hapmap]
rs11678385	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs12467407	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs13386455	1.00[CEU][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes]
rs13389106	0.89[EUR][1000 genomes]
rs17009304	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17009315	0.90[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17321999	1.00[CEU][hapmap];0.88[TSI][hapmap];0.95[EUR][1000 genomes]
rs17322097	1.00[GIH][hapmap]
rs1962588	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs2089657	0.95[CEU][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs3817143	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952115	1.00[CEU][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes]
rs57667995	0.82[ASN][1000 genomes]
rs59693338	0.90[EUR][1000 genomes]
rs6548005	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs6708792	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs6732241	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6733372	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs72787716	0.88[EUR][1000 genomes]
rs72787719	0.91[EUR][1000 genomes]
rs72787721	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787722	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787724	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73925103	0.91[EUR][1000 genomes]
rs906865	0.95[CEU][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs906867	1.00[CEU][hapmap];0.81[TSI][hapmap];0.95[EUR][1000 genomes]
rs9309678	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9967884	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[MEX][hapmap];0.81[AMR][1000 genomes];0.82[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7604484	PLB1	cis	parietal	SCAN

Chromatin state (count:61 , 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	chr2:30487200-30491600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:30487200-30517800	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:30488000-30492000	Enhancers	Primary B cells from cord blood	blood
5	chr2:30488400-30491800	Enhancers	A549	lung
6	chr2:30488400-30494600	Enhancers	Fetal Thymus	thymus
7	chr2:30488800-30498400	Enhancers	Fetal Heart	heart
8	chr2:30489200-30491600	Enhancers	Thymus	Thymus
9	chr2:30489400-30495800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:30489400-30496000	Weak transcription	Aorta	Aorta
11	chr2:30489600-30491800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:30489600-30495600	Weak transcription	Colonic Mucosa	Colon
13	chr2:30489800-30491600	Weak transcription	Adipose Nuclei	Adipose
14	chr2:30489800-30491800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr2:30489800-30494600	Weak transcription	HSMMtube	muscle
16	chr2:30489800-30495800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:30490000-30491600	Weak transcription	Fetal Lung	lung
18	chr2:30490000-30491800	Enhancers	Primary T cells from cord blood	blood
19	chr2:30490000-30491800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:30490000-30491800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:30490000-30492800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr2:30490000-30494600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr2:30490000-30495600	Weak transcription	Small Intestine	intestine
24	chr2:30490000-30495800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:30490000-30495800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:30490200-30492000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr2:30490200-30492800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:30490200-30492800	Weak transcription	Placenta	Placenta
29	chr2:30490200-30493000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:30490200-30493200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:30490200-30493200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr2:30490200-30493800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:30490200-30493800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:30490200-30495400	Weak transcription	NH-A	brain
35	chr2:30490200-30495600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:30490400-30491800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:30490400-30491800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr2:30490400-30491800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:30490400-30492200	Weak transcription	Spleen	Spleen
40	chr2:30490400-30493800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:30490400-30495400	Weak transcription	Fetal Intestine Large	intestine
42	chr2:30490400-30495400	Weak transcription	HSMM	muscle
43	chr2:30490400-30496400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:30490600-30492000	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr2:30490800-30493000	Enhancers	Esophagus	oesophagus
46	chr2:30490800-30493800	Weak transcription	K562	blood
47	chr2:30491000-30491600	Enhancers	Right Ventricle	heart
48	chr2:30491000-30492000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr2:30491200-30491600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr2:30491200-30491600	Enhancers	Pancreas	Pancrea

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