Variant report

Variant	rs11623039
Chromosome Location	chr14:72982561-72982562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:72982349..72984334-chr14:72990416..72992065,2	MCF-7	breast:
2	chr14:72980402..72983329-chr14:73011655..73014017,2	K562	blood:
3	chr14:72981876..72983755-chr14:73415545..73417261,2	K562	blood:
4	chr14:72970815..72972507-chr14:72982309..72984934,2	K562	blood:
5	chr14:72982096..72985745-chr14:73392472..73395058,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119599	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10131083	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10138138	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10147108	0.87[EUR][1000 genomes]
rs1017082	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1017083	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11158960	0.91[EUR][1000 genomes]
rs11620663	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11621407	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11621791	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11622246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11622509	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11623448	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11623449	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11626185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11628539	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11629448	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11844952	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17117164	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17180712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17180754	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1859475	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2023957	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2238171	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2238174	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2238175	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2238176	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2286072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28499014	0.95[EUR][1000 genomes]
rs28698186	0.94[EUR][1000 genomes]
rs28788858	0.86[EUR][1000 genomes]
rs3784043	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3784044	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs4346151	0.89[EUR][1000 genomes]
rs4419001	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4617784	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4617785	0.88[EUR][1000 genomes]
rs5008274	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56989014	0.95[EUR][1000 genomes]
rs57126808	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58049100	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59911600	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7144114	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7144560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7161138	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7161176	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7161290	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7161351	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73300706	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7493857	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs757654	0.92[EUR][1000 genomes]
rs8008812	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8009340	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs8009343	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8010440	1.00[CEU][hapmap];0.91[EUR][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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	esv1843592	chr14:72967991-73007547	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72979400-72995400	Weak transcription	Left Ventricle	heart
2	chr14:72979600-72984200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:72979800-72983600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:72980200-72983800	Weak transcription	Fetal Brain Male	brain
5	chr14:72980400-72983200	Weak transcription	Adipose Nuclei	Adipose
6	chr14:72980600-72983400	Weak transcription	Colonic Mucosa	Colon
7	chr14:72980600-72984000	Weak transcription	Spleen	Spleen
8	chr14:72980800-72983800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:72981000-72982800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:72981200-72982600	Weak transcription	NH-A	brain
11	chr14:72981200-72984000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:72981200-72986200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:72981400-72983000	Weak transcription	HSMM	muscle
14	chr14:72981400-72983200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:72981400-72983200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr14:72981400-72983400	Weak transcription	Ovary	ovary
17	chr14:72981400-72983600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr14:72981400-72983800	Weak transcription	HSMMtube	muscle
19	chr14:72981400-72985800	Weak transcription	Fetal Heart	heart
20	chr14:72981600-72982600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:72981600-72983400	Weak transcription	Fetal Thymus	thymus
22	chr14:72981800-72982800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:72981800-72982800	Weak transcription	Fetal Muscle Leg	muscle
24	chr14:72981800-72984400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:72982000-72982600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:72982000-72983000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:72982400-72982800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
28	chr14:72982400-72983600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:72982400-72984000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
30	chr14:72982400-72985000	Enhancers	GM12878-XiMat	blood

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