Variant report

Variant	rs56342043
Chromosome Location	chr14:64116825-64116826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:64107266..64110897-chr14:64115697..64119030,4	MCF-7	breast:
2	chr14:64111783..64113527-chr14:64115707..64117319,2	MCF-7	breast:
3	chr14:64115324..64117786-chr14:64120688..64122709,2	MCF-7	breast:
4	chr14:64116599..64118702-chr14:64200894..64203487,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252749	Chromatin interaction
ENSG00000140006	Chromatin interaction
ENSG00000258778	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10498511	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158497	0.87[EUR][1000 genomes]
rs11158502	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158503	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158504	0.87[EUR][1000 genomes]
rs11158506	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844499	0.91[EUR][1000 genomes]
rs11845405	0.91[EUR][1000 genomes]
rs11845471	0.87[EUR][1000 genomes]
rs11845514	0.91[EUR][1000 genomes]
rs11845765	0.87[EUR][1000 genomes]
rs11846081	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11847033	0.87[EUR][1000 genomes]
rs11847188	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847332	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849082	0.87[EUR][1000 genomes]
rs11850853	0.87[EUR][1000 genomes]
rs12147764	0.83[EUR][1000 genomes]
rs12147926	0.96[EUR][1000 genomes]
rs17101346	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101348	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101355	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101371	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101374	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2031941	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742622	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4346121	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55665448	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55706628	1.00[EUR][1000 genomes]
rs55758170	0.91[EUR][1000 genomes]
rs55763522	0.96[EUR][1000 genomes]
rs55797516	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55874427	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55919053	0.87[EUR][1000 genomes]
rs56015314	0.82[EUR][1000 genomes]
rs56021364	0.91[EUR][1000 genomes]
rs56051693	0.87[EUR][1000 genomes]
rs56060943	0.91[EUR][1000 genomes]
rs56094435	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56105514	0.87[EUR][1000 genomes]
rs56113838	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56169803	0.91[EUR][1000 genomes]
rs56247501	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56280069	0.87[EUR][1000 genomes]
rs56301550	0.91[EUR][1000 genomes]
rs56388534	0.87[EUR][1000 genomes]
rs56858295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56973820	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59420981	0.87[EUR][1000 genomes]
rs61692440	0.96[EUR][1000 genomes]
rs61984029	0.87[EUR][1000 genomes]
rs61984031	0.91[EUR][1000 genomes]
rs61984033	0.91[EUR][1000 genomes]
rs61984036	0.91[EUR][1000 genomes]
rs61984044	0.87[EUR][1000 genomes]
rs61984045	0.91[EUR][1000 genomes]
rs61984046	0.91[EUR][1000 genomes]
rs61984048	0.91[EUR][1000 genomes]
rs61984051	0.96[EUR][1000 genomes]
rs61984055	0.91[EUR][1000 genomes]
rs61985669	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985670	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985671	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985672	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985674	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985677	1.00[EUR][1000 genomes]
rs61985680	1.00[EUR][1000 genomes]
rs61985681	1.00[EUR][1000 genomes]
rs61985682	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61985687	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61985689	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61985690	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985691	0.91[EUR][1000 genomes]
rs6573528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573529	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7141460	1.00[EUR][1000 genomes]
rs7142737	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144490	0.85[EUR][1000 genomes]
rs7148755	1.00[EUR][1000 genomes]
rs7149625	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154718	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154795	1.00[ASN][1000 genomes]
rs7154883	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155351	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156219	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7156468	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157815	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73263634	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263671	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73263676	0.96[EUR][1000 genomes]
rs73265705	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73265710	1.00[ASN][1000 genomes]
rs73265719	0.87[EUR][1000 genomes]
rs73265728	1.00[ASN][1000 genomes]
rs73265743	0.87[EUR][1000 genomes]
rs73267621	0.91[EUR][1000 genomes]
rs8003077	0.91[EUR][1000 genomes]
rs8003101	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003314	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006901	0.91[EUR][1000 genomes]
rs8010642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013242	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8017282	0.96[EUR][1000 genomes]
rs8017835	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8018034	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018194	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018382	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018872	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019280	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8020833	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8020893	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9671362	1.00[EUR][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	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv1048645	chr14:64057327-64283872	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64109000-64183800	Weak transcription	Spleen	Spleen
2	chr14:64109200-64121200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:64109200-64130400	Weak transcription	Lung	lung
4	chr14:64109800-64117000	Weak transcription	HSMMtube	muscle
5	chr14:64109800-64122600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr14:64109800-64125400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:64109800-64126200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr14:64109800-64126400	Weak transcription	Brain Hippocampus Middle	brain
9	chr14:64109800-64126600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:64109800-64126600	Weak transcription	Aorta	Aorta
11	chr14:64109800-64144800	Weak transcription	Fetal Intestine Small	intestine
12	chr14:64109800-64159200	Weak transcription	Fetal Stomach	stomach
13	chr14:64110000-64122400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr14:64110200-64124400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr14:64110200-64126400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:64110400-64126200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:64110400-64126200	Weak transcription	Pancreas	Pancrea
18	chr14:64110400-64126200	Weak transcription	HepG2	liver
19	chr14:64112600-64117000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr14:64114600-64117000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:64114800-64117000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:64114800-64118800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr14:64114800-64129600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:64115000-64117200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr14:64115200-64117200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr14:64115200-64122800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:64115600-64117000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr14:64116000-64117200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr14:64116000-64118800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:64116200-64118400	Enhancers	Fetal Thymus	thymus
31	chr14:64116400-64117000	Enhancers	Thymus	Thymus
32	chr14:64116400-64117600	Enhancers	Fetal Lung	lung
33	chr14:64116400-64118400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:64116600-64117000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:64116600-64117600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr14:64116600-64118400	Enhancers	Placenta	Placenta
37	chr14:64116800-64117000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:64116800-64117200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:64116800-64117200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr14:64116800-64117400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:64116800-64117400	Enhancers	Osteobl	bone
42	chr14:64116800-64117600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr14:64116800-64117600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:64116800-64117600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:64116800-64117600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:64116800-64117600	Enhancers	GM12878-XiMat	blood
47	chr14:64116800-64117800	Enhancers	Dnd41	blood
48	chr14:64116800-64118000	Flanking Active TSS	Primary T cells from cord blood	blood

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