Variant report

Variant	rs7154718
Chromosome Location	chr14:64143825-64143826
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:64137229..64140097-chr14:64143600..64145539,3	MCF-7	breast:
2	chr14:64137258..64140255-chr14:64142118..64144532,3	MCF-7	breast:
3	chr14:64142248..64146398-chr14:64192369..64195411,6	MCF-7	breast:
4	chr14:64143363..64144915-chr14:64179097..64181739,2	MCF-7	breast:
5	chr14:64132334..64134654-chr14:64140903..64143888,3	MCF-7	breast:
6	chr14:64140459..64142120-chr14:64142152..64143880,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126821	Chromatin interaction

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10498511	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158497	0.87[EUR][1000 genomes]
rs11158502	1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158503	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158504	0.87[EUR][1000 genomes]
rs11158506	1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844499	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11845405	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs11845471	1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs11845514	0.91[EUR][1000 genomes]
rs11845765	1.00[GIH][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs11846081	1.00[EUR][1000 genomes]
rs11847033	0.87[EUR][1000 genomes]
rs11847188	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847332	1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849082	0.87[EUR][1000 genomes]
rs11850853	1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs12147764	0.83[EUR][1000 genomes]
rs12147926	0.96[EUR][1000 genomes]
rs17101346	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101348	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17101355	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17101371	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101374	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2031940	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2031941	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742622	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4346121	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55665448	1.00[EUR][1000 genomes]
rs55706628	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55758170	0.91[EUR][1000 genomes]
rs55763522	0.96[EUR][1000 genomes]
rs55797516	1.00[EUR][1000 genomes]
rs55874427	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	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	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56280069	0.87[EUR][1000 genomes]
rs56301550	0.91[EUR][1000 genomes]
rs56342043	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56388534	0.87[EUR][1000 genomes]
rs56858295	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56973820	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	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985670	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985671	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985672	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985674	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985677	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61985680	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61985681	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61985682	1.00[EUR][1000 genomes]
rs61985687	1.00[EUR][1000 genomes]
rs61985689	1.00[EUR][1000 genomes]
rs61985690	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985691	0.91[EUR][1000 genomes]
rs6573528	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573529	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7141460	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7142737	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144490	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7145740	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs7148755	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7149625	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154057	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7154795	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7154883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155351	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156219	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7156468	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[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	1.00[EUR][1000 genomes]
rs73263671	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73263676	0.96[EUR][1000 genomes]
rs73265705	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	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs8003101	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003314	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006901	0.91[EUR][1000 genomes]
rs8010642	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012866	1.00[JPT][hapmap]
rs8013242	1.00[EUR][1000 genomes]
rs8017282	0.96[EUR][1000 genomes]
rs8017835	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8018034	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018194	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018382	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018872	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019280	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8020831	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs8020833	1.00[EUR][1000 genomes]
rs8020893	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9671362	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	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
6	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64109000-64183800	Weak transcription	Spleen	Spleen
2	chr14:64109800-64144800	Weak transcription	Fetal Intestine Small	intestine
3	chr14:64109800-64159200	Weak transcription	Fetal Stomach	stomach
4	chr14:64117600-64159200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:64118400-64160000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:64120400-64159600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr14:64120600-64144000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr14:64120600-64164200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:64122800-64160400	Weak transcription	Ovary	ovary
10	chr14:64126600-64163200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr14:64130400-64144800	Weak transcription	Thymus	Thymus
12	chr14:64130600-64163600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr14:64130800-64192600	Weak transcription	Right Ventricle	heart
14	chr14:64136800-64152000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr14:64137600-64180400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:64137800-64177000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr14:64138200-64144200	Weak transcription	HMEC	breast
18	chr14:64138400-64144800	Weak transcription	HSMM	muscle
19	chr14:64139000-64144800	Weak transcription	Lung	lung
20	chr14:64139600-64166400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr14:64139800-64144200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:64139800-64144200	Weak transcription	NHEK	skin
23	chr14:64139800-64153200	Weak transcription	Brain Germinal Matrix	brain
24	chr14:64139800-64178200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:64140000-64144800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:64140200-64165200	Weak transcription	Gastric	stomach
27	chr14:64140600-64159600	Weak transcription	NHDF-Ad	bronchial
28	chr14:64141000-64144000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:64141000-64156800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:64141000-64156800	Weak transcription	Pancreas	Pancrea
31	chr14:64141200-64168200	Weak transcription	Psoas Muscle	Psoas
32	chr14:64141400-64168200	Weak transcription	Aorta	Aorta
33	chr14:64141600-64144600	Weak transcription	Osteobl	bone
34	chr14:64141600-64152600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr14:64141800-64144800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr14:64141800-64167800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr14:64141800-64168200	Weak transcription	Small Intestine	intestine
38	chr14:64142000-64168200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr14:64142200-64158400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:64142200-64168800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr14:64142400-64144000	Weak transcription	HUVEC	blood vessel
42	chr14:64142400-64145200	Strong transcription	Liver	Liver
43	chr14:64142400-64164000	Weak transcription	Primary B cells from cord blood	blood
44	chr14:64142600-64144000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr14:64142600-64145000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr14:64142600-64145200	Strong transcription	Brain Anterior Caudate	brain
47	chr14:64142600-64147800	Weak transcription	GM12878-XiMat	blood
48	chr14:64142600-64152800	Weak transcription	HSMMtube	muscle
49	chr14:64142800-64144200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:64142800-64144200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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