Variant report

Variant	rs56015314
Chromosome Location	chr14:64192404-64192405
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:64191766..64194275-chr14:64221105..64222868,2	MCF-7	breast:
2	chr14:64189547..64192807-chr14:64193177..64196300,4	MCF-7	breast:
3	chr14:64191710..64193238-chr17:57914644..57916298,2	MCF-7	breast:
4	chr14:64106726..64110547-chr14:64191903..64196286,9	MCF-7	breast:
5	chr14:64008854..64011318-chr14:64190898..64192540,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000062716	Chromatin interaction
ENSG00000140006	Chromatin interaction
ENSG00000126821	Chromatin interaction
ENSG00000154001	Chromatin interaction
ENSG00000261242	Chromatin interaction

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10498511	0.82[EUR][1000 genomes]
rs11158497	0.86[EUR][1000 genomes]
rs11158502	0.84[EUR][1000 genomes]
rs11158503	0.91[EUR][1000 genomes]
rs11158504	0.95[EUR][1000 genomes]
rs11158506	0.91[EUR][1000 genomes]
rs11844499	0.91[EUR][1000 genomes]
rs11845405	0.91[EUR][1000 genomes]
rs11845471	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11845514	0.90[EUR][1000 genomes]
rs11845765	0.95[EUR][1000 genomes]
rs11846081	0.82[EUR][1000 genomes]
rs11847033	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11847188	0.82[EUR][1000 genomes]
rs11847332	0.82[EUR][1000 genomes]
rs11849082	0.95[EUR][1000 genomes]
rs11850575	0.92[AMR][1000 genomes]
rs11850853	1.00[AMR][1000 genomes]
rs12147764	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12147926	0.86[EUR][1000 genomes]
rs17101346	0.82[EUR][1000 genomes]
rs17101348	0.82[EUR][1000 genomes]
rs17101355	0.82[EUR][1000 genomes]
rs17101371	0.82[EUR][1000 genomes]
rs17101374	0.91[EUR][1000 genomes]
rs2031941	0.91[EUR][1000 genomes]
rs3742622	0.82[EUR][1000 genomes]
rs4346121	0.91[EUR][1000 genomes]
rs55665448	0.82[EUR][1000 genomes]
rs55683626	0.91[AMR][1000 genomes]
rs55706628	0.82[EUR][1000 genomes]
rs55758170	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55763522	0.86[EUR][1000 genomes]
rs55797516	0.82[EUR][1000 genomes]
rs55874427	0.82[EUR][1000 genomes]
rs55919053	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56021364	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56051693	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56060943	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56094435	0.82[EUR][1000 genomes]
rs56105514	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56113838	0.82[EUR][1000 genomes]
rs56169803	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56247501	0.82[EUR][1000 genomes]
rs56280069	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56301550	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56342043	0.82[EUR][1000 genomes]
rs56388534	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56858295	0.82[EUR][1000 genomes]
rs56973820	0.82[EUR][1000 genomes]
rs59420981	0.86[EUR][1000 genomes]
rs61692440	0.86[EUR][1000 genomes]
rs61984009	0.83[AMR][1000 genomes]
rs61984029	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61984031	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61984033	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61984036	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61984044	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61984045	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61984046	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61984048	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61984051	0.86[EUR][1000 genomes]
rs61984055	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61985669	0.82[EUR][1000 genomes]
rs61985670	0.82[EUR][1000 genomes]
rs61985671	0.82[EUR][1000 genomes]
rs61985672	0.82[EUR][1000 genomes]
rs61985677	0.82[EUR][1000 genomes]
rs61985680	0.82[EUR][1000 genomes]
rs61985681	0.82[EUR][1000 genomes]
rs61985682	0.82[EUR][1000 genomes]
rs61985687	0.82[EUR][1000 genomes]
rs61985689	0.82[EUR][1000 genomes]
rs61985690	0.82[EUR][1000 genomes]
rs61985691	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6573528	0.82[EUR][1000 genomes]
rs6573529	0.82[EUR][1000 genomes]
rs7141460	0.82[EUR][1000 genomes]
rs7142737	0.82[EUR][1000 genomes]
rs7148755	0.82[EUR][1000 genomes]
rs7149625	0.82[EUR][1000 genomes]
rs7154718	0.82[EUR][1000 genomes]
rs7154883	0.82[EUR][1000 genomes]
rs7155351	0.82[EUR][1000 genomes]
rs7156219	0.91[EUR][1000 genomes]
rs7156468	0.82[EUR][1000 genomes]
rs7157815	0.91[EUR][1000 genomes]
rs73263634	0.82[EUR][1000 genomes]
rs73263671	0.82[EUR][1000 genomes]
rs73263676	0.86[EUR][1000 genomes]
rs73265705	0.82[EUR][1000 genomes]
rs73265719	0.95[EUR][1000 genomes]
rs73265743	0.95[EUR][1000 genomes]
rs73267621	0.91[EUR][1000 genomes]
rs8003077	0.91[EUR][1000 genomes]
rs8003101	0.82[EUR][1000 genomes]
rs8003314	0.82[EUR][1000 genomes]
rs8006901	0.91[EUR][1000 genomes]
rs8010642	0.82[EUR][1000 genomes]
rs8013242	0.82[EUR][1000 genomes]
rs8017282	0.86[EUR][1000 genomes]
rs8017835	0.82[EUR][1000 genomes]
rs8018382	0.82[EUR][1000 genomes]
rs8018872	0.82[EUR][1000 genomes]
rs8019280	0.82[EUR][1000 genomes]
rs8020833	0.82[EUR][1000 genomes]
rs8020893	0.82[EUR][1000 genomes]
rs9671362	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1037824	chr14:64119493-64254025	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1044325	chr14:64142976-64201537	Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64130800-64192600	Weak transcription	Right Ventricle	heart
2	chr14:64145200-64192600	Weak transcription	HSMM	muscle
3	chr14:64180000-64192600	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:64181200-64192600	Weak transcription	K562	blood
5	chr14:64183000-64192600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr14:64185000-64192600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:64185000-64193400	Weak transcription	Left Ventricle	heart
8	chr14:64185800-64192600	Weak transcription	Colonic Mucosa	Colon
9	chr14:64186200-64193400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr14:64186400-64192800	Weak transcription	Fetal Muscle Leg	muscle
11	chr14:64187000-64193800	Weak transcription	Lung	lung
12	chr14:64187200-64193200	Weak transcription	Fetal Intestine Small	intestine
13	chr14:64187400-64192800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:64188200-64193200	Weak transcription	Fetal Thymus	thymus
15	chr14:64188200-64193800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:64188800-64193600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:64189600-64193800	Weak transcription	Esophagus	oesophagus
18	chr14:64190200-64192800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:64190600-64192600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr14:64190600-64194200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr14:64190800-64192800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:64191000-64193400	Weak transcription	Small Intestine	intestine
23	chr14:64191000-64193800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:64191200-64193800	Weak transcription	Spleen	Spleen
25	chr14:64191200-64195000	Active TSS	GM12878-XiMat	blood
26	chr14:64191200-64195200	Active TSS	Hela-S3	cervix
27	chr14:64191400-64193800	Weak transcription	Pancreas	Pancrea
28	chr14:64191800-64194000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:64192000-64192600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:64192000-64192800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:64192000-64192800	Flanking Active TSS	HepG2	liver
32	chr14:64192000-64193000	Enhancers	Primary hematopoietic stem cells	blood
33	chr14:64192000-64193800	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr14:64192000-64194200	Flanking Active TSS	Dnd41	blood
35	chr14:64192000-64195200	Active TSS	Rectal Smooth Muscle	rectum
36	chr14:64192200-64192600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:64192200-64192600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:64192200-64192600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr14:64192200-64192600	Weak transcription	Psoas Muscle	Psoas
40	chr14:64192200-64192800	Flanking Active TSS	Osteobl	bone
41	chr14:64192200-64193000	Active TSS	Primary B cells from peripheral blood	blood
42	chr14:64192200-64193400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:64192200-64193400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr14:64192200-64193600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr14:64192200-64193800	Active TSS	Primary T cells fromperipheralblood	blood
46	chr14:64192200-64193800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:64192200-64195000	Active TSS	Placenta	Placenta
48	chr14:64192200-64195200	Active TSS	NHDF-Ad	bronchial
49	chr14:64192200-64195200	Active TSS	NHLF	lung
50	chr14:64192200-64195600	Active TSS	Brain Inferior Temporal Lobe	brain

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