Variant report

Variant	rs17101348
Chromosome Location	chr14:64127231-64127232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:64125310..64128270-chr14:64131430..64133973,2	MCF-7	breast:
2	chr14:64106873..64108789-chr14:64125128..64133226,8	MCF-7	breast:
3	chr14:64125019..64128228-chr14:64138838..64141958,3	MCF-7	breast:
4	chr14:64119675..64121951-chr14:64126247..64127896,3	MCF-7	breast:
5	chr14:64106820..64110683-chr14:64124053..64129332,13	MCF-7	breast:
6	chr14:64125690..64127275-chr14:64129139..64131039,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140006	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10498511	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11158497	0.87[EUR][1000 genomes]
rs11158502	1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs11158503	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11158504	0.87[EUR][1000 genomes]
rs11158506	1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][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];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	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11847033	0.87[EUR][1000 genomes]
rs11847188	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs11847332	1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][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];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101355	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101371	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs17101374	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031940	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2031941	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3742622	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4346121	0.91[EUR][1000 genomes]
rs55665448	0.83[AFR][1000 genomes];0.90[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	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55874427	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56105514	0.87[EUR][1000 genomes]
rs56113838	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56169803	0.91[EUR][1000 genomes]
rs56247501	1.00[EUR][1000 genomes]
rs56280069	0.87[EUR][1000 genomes]
rs56301550	0.91[EUR][1000 genomes]
rs56342043	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56388534	0.87[EUR][1000 genomes]
rs56858295	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56973820	0.95[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	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61985670	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61985671	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61985672	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61985674	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61985677	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985680	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985681	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61985687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61985689	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61985690	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61985691	0.91[EUR][1000 genomes]
rs6573528	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6573529	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141460	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142737	1.00[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7144490	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7145740	1.00[CEU][hapmap]
rs7148755	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149625	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7154057	1.00[JPT][hapmap]
rs7154718	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7154795	1.00[JPT][hapmap]
rs7154883	1.00[EUR][1000 genomes]
rs7155351	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7156219	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156468	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]
rs7157815	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73263634	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263671	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263676	0.96[EUR][1000 genomes]
rs73265705	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73265719	0.87[EUR][1000 genomes]
rs73265743	0.87[EUR][1000 genomes]
rs73267621	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8003077	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8003101	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8003314	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8006901	0.91[EUR][1000 genomes]
rs8010642	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8012866	1.00[JPT][hapmap]
rs8013242	1.00[AFR][1000 genomes];1.00[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];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8018034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8018194	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8018382	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8018872	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8019280	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8020831	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs8020833	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8020893	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9671362	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64109000-64183800	Weak transcription	Spleen	Spleen
2	chr14:64109200-64130400	Weak transcription	Lung	lung
3	chr14:64109800-64144800	Weak transcription	Fetal Intestine Small	intestine
4	chr14:64109800-64159200	Weak transcription	Fetal Stomach	stomach
5	chr14:64114800-64129600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:64117600-64159200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:64118400-64129600	Weak transcription	Thymus	Thymus
8	chr14:64118400-64160000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:64118800-64130200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:64119400-64129600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:64119600-64142600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr14:64119600-64143200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr14:64120000-64130400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:64120400-64159600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr14:64120600-64144000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr14:64120600-64164200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:64120800-64139000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:64122600-64129400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:64122800-64160400	Weak transcription	Ovary	ovary
20	chr14:64123400-64128200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr14:64123800-64130400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:64124200-64143600	Weak transcription	Primary T cells from cord blood	blood
23	chr14:64126200-64127400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:64126200-64127600	Enhancers	Pancreas	Pancrea
25	chr14:64126400-64129600	Weak transcription	Placenta	Placenta
26	chr14:64126600-64127400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:64126600-64163200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr14:64126800-64127400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:64126800-64130200	Weak transcription	HepG2	liver
30	chr14:64127000-64127400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:64127000-64127600	Enhancers	Brain Hippocampus Middle	brain
32	chr14:64127200-64127600	Enhancers	Brain Substantia Nigra	brain

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