Variant report

Variant	rs11744961
Chromosome Location	chr5:70752768-70752769
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:70751568..70754307-chr5:70852249..70853965,2	K562	blood:
2	chr5:70742035..70743794-chr5:70750287..70752992,2	MCF-7	breast:
3	chr5:70752394..70753928-chr5:70756201..70758107,2	K562	blood:

Variant related genes	Relation type
ENSG00000250387	Chromatin interaction

Extended variants
information (count: 152 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:148)

rs_ID	r²[population]
rs10942466	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10942683	0.83[EUR][1000 genomes]
rs11740849	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11742923	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12109984	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12110291	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12514575	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12658383	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13153636	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13158264	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13165848	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13168805	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13175174	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13185319	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13185743	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1423358	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs149114	0.82[EUR][1000 genomes]
rs1559260	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs156753	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs156754	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs156755	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs157045	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs157046	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1693895	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1698063	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs172148	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17334377	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs175872	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs182190	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1833856	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs185733	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs188059	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1961760	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2059192	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2059193	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2059194	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2059195	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2315519	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2315534	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2432059	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2432060	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2454086	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2646639	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2652615	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs276590	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs276591	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs276592	0.83[EUR][1000 genomes]
rs276593	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs276594	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs276595	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs276597	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs276598	0.82[EUR][1000 genomes]
rs276599	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs276600	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs276601	0.83[EUR][1000 genomes]
rs277942	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs277944	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs277945	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs277948	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs277957	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs277958	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs277960	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs277961	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs277962	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs277963	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs277964	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs277965	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs277966	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs277967	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs277969	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs277979	0.96[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap]
rs277980	0.96[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap]
rs277996	0.96[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap]
rs278000	0.96[CEU][hapmap];0.95[CHB][hapmap]
rs279290	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs279291	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs279322	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs279337	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34029702	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34117302	0.84[ASN][1000 genomes]
rs35327154	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35420270	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35696325	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36036841	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3761965	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3761967	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs378585	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs384732	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3890749	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs392791	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs404692	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs418738	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4337836	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs439698	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs441691	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4421086	0.81[ASN][1000 genomes]
rs445771	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4512120	0.82[ASN][1000 genomes]
rs457908	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs458009	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs458370	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs459298	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs461215	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs462282	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs463871	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs464155	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs464594	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs464962	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs465073	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs466930	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs467381	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs467413	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs467851	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs467901	0.83[EUR][1000 genomes]
rs468028	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs468033	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs468158	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs468446	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs468564	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs468633	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs468658	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs468776	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs468832	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs469039	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs469142	0.86[EUR][1000 genomes]
rs469369	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs469379	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs469617	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4703986	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4704049	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4704096	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs560394	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62374360	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66528760	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6871754	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs715748	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7442961	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7443763	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7444320	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7447146	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7447545	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7448221	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7448990	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7702940	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7726336	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7732361	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7737101	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs986217	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv528571	chr5:70679626-70767269	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv882176	chr5:70738250-70860665	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv2754424	chr5:70749744-70885544	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11744961	BDP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70750800-70752800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:70750800-70752800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:70750800-70752800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:70750800-70753000	Active TSS	H1 Cell Line	embryonic stem cell
5	chr5:70750800-70753000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:70750800-70753000	Active TSS	Fetal Kidney	kidney
7	chr5:70750800-70753000	Active TSS	HSMM	muscle
8	chr5:70750800-70753200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:70750800-70753600	Active TSS	A549	lung
10	chr5:70750800-70754400	Active TSS	K562	blood
11	chr5:70751000-70752800	Active TSS	Fetal Muscle Trunk	muscle
12	chr5:70751000-70752800	Active TSS	Placenta	Placenta
13	chr5:70751000-70752800	Active TSS	Ovary	ovary
14	chr5:70751000-70752800	Active TSS	Thymus	Thymus
15	chr5:70751000-70752800	Active TSS	Hela-S3	cervix
16	chr5:70751000-70752800	Active TSS	NHEK	skin
17	chr5:70751000-70753000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:70751000-70753200	Active TSS	Right Ventricle	heart
19	chr5:70751000-70753200	Active TSS	GM12878-XiMat	blood
20	chr5:70751000-70753400	Active TSS	HMEC	breast
21	chr5:70751000-70753400	Active TSS	NHLF	lung
22	chr5:70751000-70753600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:70751000-70753600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:70751200-70752800	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr5:70751200-70752800	Active TSS	HSMMtube	muscle
26	chr5:70751200-70753000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:70751200-70753000	Active TSS	Fetal Muscle Leg	muscle
28	chr5:70751200-70753200	Active TSS	Psoas Muscle	Psoas
29	chr5:70751400-70752800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:70751400-70753000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:70751400-70753200	Active TSS	Muscle Satellite Cultured Cells	--
32	chr5:70751800-70752800	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr5:70751800-70752800	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr5:70751800-70753000	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr5:70752000-70752800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr5:70752000-70752800	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr5:70752000-70753000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr5:70752000-70753000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr5:70752000-70753000	Flanking Active TSS	Liver	Liver
40	chr5:70752000-70753000	Active TSS	Right Atrium	heart
41	chr5:70752000-70753400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:70752000-70753400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:70752200-70752800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:70752200-70753000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr5:70752200-70753000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:70752200-70753000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr5:70752200-70753000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr5:70752200-70753000	Flanking Active TSS	Osteobl	bone
49	chr5:70752200-70755000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:70752200-70755000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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