Variant report

Variant	rs9530920
Chromosome Location	chr13:79997389-79997390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:79993539..79995234-chr13:79996702..79999289,2	K562	blood:
2	chr13:79993043..79995234-chr13:79996646..79999289,3	K562	blood:
3	chr13:79988351..79993028-chr13:79994530..79998422,6	K562	blood:
4	chr13:79997230..79999952-chr13:80054679..80057459,3	K562	blood:
5	chr13:79996856..79999790-chr13:80053945..80056536,3	MCF-7	breast:
6	chr13:79989405..79991608-chr13:79994530..79997565,3	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDFIP2-2	chr13:79996862-79998466	XLOC_010445
2	lnc-NDFIP2-2	chr13:79996122-79997389	XLOC_010445
3	lnc-NDFIP2-2	chr13:79996122-79999377	XLOC_010445
4	lnc-NDFIP2-2	chr13:79996862-79998468	NONHSAT034478
5	lnc-NDFIP2-2	chr13:79996862-79998463	ENSG00000227354.2

No data

Variant related genes	Relation type
ENSG00000102471	Chromatin interaction
ENSG00000232132	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs11620233	0.83[ASN][1000 genomes]
rs12877507	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1324868	0.95[ASN][1000 genomes]
rs1590465	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1616547	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1619669	0.92[ASN][1000 genomes]
rs1624537	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1748761	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1748762	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1748763	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1748769	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1749982	0.92[ASN][1000 genomes]
rs1853830	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1886494	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1980764	0.91[ASN][1000 genomes]
rs2031815	0.95[ASN][1000 genomes]
rs2095477	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2147568	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2182009	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2265377	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2265378	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2265381	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2265382	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2296287	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2477395	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2477397	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2484345	1.00[ASN][1000 genomes]
rs2763809	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2763810	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2765078	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2876740	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs314689	0.89[ASN][1000 genomes]
rs314690	0.93[ASN][1000 genomes]
rs314692	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314693	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314694	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314695	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35476664	0.91[ASN][1000 genomes]
rs3742120	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3742122	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3764150	0.88[ASN][1000 genomes]
rs4146473	0.85[ASN][1000 genomes]
rs416660	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs418150	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4605023	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57821487	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs586219	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs643778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563100	0.94[ASN][1000 genomes]
rs6563104	0.95[ASN][1000 genomes]
rs7321186	0.95[ASN][1000 genomes]
rs7322901	0.95[ASN][1000 genomes]
rs7323246	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7328494	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7329331	0.95[ASN][1000 genomes]
rs7330479	0.95[ASN][1000 genomes]
rs7331525	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7331766	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7331867	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7331872	0.95[ASN][1000 genomes]
rs7336186	0.95[ASN][1000 genomes]
rs7336581	0.95[ASN][1000 genomes]
rs7336939	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7336979	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7338678	0.95[ASN][1000 genomes]
rs7981500	0.95[ASN][1000 genomes]
rs7986306	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7987193	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7990321	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8001281	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8001308	0.91[ASN][1000 genomes]
rs8001392	0.85[ASN][1000 genomes]
rs8001622	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8001795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8002838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912639	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9318638	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9318640	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9318641	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9530913	0.95[ASN][1000 genomes]
rs9530914	0.96[ASN][1000 genomes]
rs9530915	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9530917	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9545097	0.96[ASN][1000 genomes]
rs9545101	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9545104	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545106	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545108	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9545109	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9545113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9545114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565496	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9565497	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9565500	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9574416	0.95[ASN][1000 genomes]
rs9574418	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9574419	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9574420	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9574422	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9593396	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9601226	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9601227	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9530920	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79980800-80007200	Weak transcription	Spleen	Spleen
2	chr13:79981000-79997400	Weak transcription	Lung	lung
3	chr13:79981000-79997600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:79981000-79998000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr13:79981000-79998000	Weak transcription	Ovary	ovary
6	chr13:79981000-80007200	Weak transcription	Aorta	Aorta
7	chr13:79981200-79997600	Weak transcription	Fetal Muscle Leg	muscle
8	chr13:79981200-80010200	Weak transcription	Right Ventricle	heart
9	chr13:79981400-79997800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr13:79981400-80000200	Weak transcription	Psoas Muscle	Psoas
11	chr13:79981600-79997600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr13:79981600-79997600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr13:79981600-79998000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr13:79981600-79998200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr13:79981600-79998200	Weak transcription	Brain Hippocampus Middle	brain
16	chr13:79981800-80001600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr13:79982200-79997600	Weak transcription	NHEK	skin
18	chr13:79982200-79998000	Weak transcription	Brain Anterior Caudate	brain
19	chr13:79982400-79997600	Weak transcription	Fetal Lung	lung
20	chr13:79982600-80006400	Weak transcription	Gastric	stomach
21	chr13:79982800-79997600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr13:79982800-79998400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr13:79982800-79998600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:79983000-79998600	Weak transcription	Dnd41	blood
25	chr13:79983600-80003400	Weak transcription	GM12878-XiMat	blood
26	chr13:79984200-79997600	Weak transcription	Liver	Liver
27	chr13:79987800-80001400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr13:79988000-79998200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:79988400-79998000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr13:79988600-79997800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr13:79989400-79998200	Weak transcription	Primary T cells from cord blood	blood
32	chr13:79989400-79998200	Weak transcription	Left Ventricle	heart
33	chr13:79989600-79998200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr13:79996600-79997800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:79996600-79998200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr13:79996600-79999200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr13:79997200-79998200	Enhancers	Osteobl	bone

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