Variant report

Variant	rs7156468
Chromosome Location	chr14:64168837-64168838
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64108308..64110430-chr14:64168836..64171377,2	K562	blood:
2	chr14:64165066..64167025-chr14:64168024..64169735,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140006	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[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];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];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[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158504	0.87[EUR][1000 genomes]
rs11158506	1.00[JPT][hapmap];0.95[AMR][1000 genomes];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[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];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	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11847033	0.87[EUR][1000 genomes]
rs11847188	1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847332	1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[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];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101348	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101355	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101371	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101374	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2031940	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2031941	0.86[AMR][1000 genomes];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[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.95[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	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55706628	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55758170	0.91[EUR][1000 genomes]
rs55763522	0.96[EUR][1000 genomes]
rs55797516	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55874427	0.80[AFR][1000 genomes];0.95[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	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56105514	0.87[EUR][1000 genomes]
rs56113838	0.81[AMR][1000 genomes];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]
rs56342043	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56388534	0.87[EUR][1000 genomes]
rs56858295	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56973820	0.90[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	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985670	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985671	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985672	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985674	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985677	1.00[EUR][1000 genomes]
rs61985680	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61985681	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61985682	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61985687	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61985689	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61985690	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985691	0.91[EUR][1000 genomes]
rs6573528	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573529	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7141460	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7142737	1.00[CEU][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144490	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7145740	1.00[CEU][hapmap]
rs7148755	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]
rs7149625	1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154057	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7154718	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]
rs7154795	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7154883	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155351	1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156219	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7157815	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73263634	1.00[EUR][1000 genomes]
rs73263671	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73263676	0.96[EUR][1000 genomes]
rs73265705	0.95[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	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8003077	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8003101	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];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[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006901	0.91[EUR][1000 genomes]
rs8010642	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012866	1.00[JPT][hapmap]
rs8013242	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8017282	0.96[EUR][1000 genomes]
rs8017835	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8018034	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018194	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018382	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018872	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019280	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8020831	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs8020833	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8020893	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9671362	0.82[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	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
6	esv3432445	chr14:64162248-64191918	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64109000-64183800	Weak transcription	Spleen	Spleen
2	chr14:64130800-64192600	Weak transcription	Right Ventricle	heart
3	chr14:64137600-64180400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:64137800-64177000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:64139800-64178200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:64143200-64180600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:64143800-64172400	Weak transcription	A549	lung
8	chr14:64143800-64182200	Weak transcription	Fetal Lung	lung
9	chr14:64143800-64182200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr14:64145200-64169200	Weak transcription	Lung	lung
11	chr14:64145200-64182000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:64145200-64182200	Weak transcription	Thymus	Thymus
13	chr14:64145200-64184600	Weak transcription	Left Ventricle	heart
14	chr14:64145200-64192600	Weak transcription	HSMM	muscle
15	chr14:64145400-64169200	Weak transcription	Colonic Mucosa	Colon
16	chr14:64145800-64179800	Weak transcription	Hela-S3	cervix
17	chr14:64153200-64184000	Weak transcription	Liver	Liver
18	chr14:64153400-64174200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr14:64153400-64182200	Weak transcription	Adipose Nuclei	Adipose
20	chr14:64153400-64182200	Weak transcription	Dnd41	blood
21	chr14:64154200-64179800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:64154400-64173200	Weak transcription	NHEK	skin
23	chr14:64154600-64173400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:64154800-64184000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:64157600-64178200	Weak transcription	Fetal Muscle Leg	muscle
26	chr14:64159800-64169200	Weak transcription	Placenta	Placenta
27	chr14:64160800-64172200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:64161000-64178400	Weak transcription	Ovary	ovary
29	chr14:64161200-64178400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:64163000-64179800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:64163000-64180600	Weak transcription	Fetal Stomach	stomach
32	chr14:64164800-64173400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:64166200-64183600	Weak transcription	Brain Hippocampus Middle	brain
34	chr14:64167600-64169200	Enhancers	K562	blood
35	chr14:64167600-64169400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:64167800-64169400	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr14:64167800-64170200	Enhancers	Primary B cells from peripheral blood	blood
38	chr14:64168000-64169000	Enhancers	Primary B cells from cord blood	blood
39	chr14:64168000-64169800	Enhancers	Primary hematopoietic stem cells	blood
40	chr14:64168200-64169000	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr14:64168200-64169000	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr14:64168200-64169000	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr14:64168200-64169000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr14:64168200-64169000	Enhancers	Duodenum Mucosa	Duodenum
45	chr14:64168200-64169200	Enhancers	Primary T cells from cord blood	blood
46	chr14:64168200-64169200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr14:64168200-64169200	Enhancers	GM12878-XiMat	blood
48	chr14:64168200-64169400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr14:64168200-64169400	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr14:64168200-64169400	Enhancers	Fetal Intestine Large	intestine

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