Variant report

Variant	rs71397504
Chromosome Location	chr15:50991144-50991145
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:50990590..50993548-chr15:51161055..51163401,2	MCF-7	breast:
2	chr15:50988961..50992057-chr15:50996668..50999166,3	MCF-7	breast:

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10519284	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1052459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635825	0.86[ASN][1000 genomes]
rs11854486	0.88[ASN][1000 genomes]
rs11854949	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11858096	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11858301	0.86[ASN][1000 genomes]
rs12898588	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12899074	0.84[ASN][1000 genomes]
rs12899181	0.86[ASN][1000 genomes]
rs12899321	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12899517	0.86[ASN][1000 genomes]
rs12899580	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12899581	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12899700	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12899943	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12900933	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12901275	0.81[ASN][1000 genomes]
rs12901621	0.84[ASN][1000 genomes]
rs12902399	0.85[EUR][1000 genomes]
rs12903573	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12904103	1.00[AFR][1000 genomes]
rs12904263	1.00[AFR][1000 genomes]
rs12904353	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12904617	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12904729	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12905120	0.81[ASN][1000 genomes]
rs12905474	0.81[ASN][1000 genomes]
rs12905720	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12906219	0.88[ASN][1000 genomes]
rs12906675	0.81[ASN][1000 genomes]
rs12906820	0.81[ASN][1000 genomes]
rs12907202	0.81[ASN][1000 genomes]
rs12907387	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12907472	0.81[ASN][1000 genomes]
rs12907922	0.81[ASN][1000 genomes]
rs12908546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12909927	0.94[ASN][1000 genomes]
rs12910276	0.94[ASN][1000 genomes]
rs12910613	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12911654	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12911753	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12912793	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12912835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12912841	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12912921	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12913081	0.88[ASN][1000 genomes]
rs12913464	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12913494	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12913657	1.00[ASN][1000 genomes]
rs12913733	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12915001	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12915606	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12916113	0.88[ASN][1000 genomes]
rs12916122	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12916510	0.88[ASN][1000 genomes]
rs12917462	0.85[EUR][1000 genomes]
rs16973487	0.81[ASN][1000 genomes]
rs28641162	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2928138	1.00[AFR][1000 genomes]
rs34885055	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35148930	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35178604	0.81[ASN][1000 genomes]
rs35314460	0.81[ASN][1000 genomes]
rs35597009	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35725584	0.94[ASN][1000 genomes]
rs35753060	0.84[ASN][1000 genomes]
rs35849698	0.81[ASN][1000 genomes]
rs36071575	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs480328	1.00[AFR][1000 genomes]
rs485324	1.00[AFR][1000 genomes]
rs514449	1.00[AFR][1000 genomes]
rs515637	1.00[AFR][1000 genomes]
rs531366	1.00[AFR][1000 genomes]
rs543821	1.00[AFR][1000 genomes]
rs555569	1.00[AFR][1000 genomes]
rs600724	0.81[ASN][1000 genomes]
rs602908	1.00[AFR][1000 genomes]
rs615835	1.00[AFR][1000 genomes]
rs625022	0.81[ASN][1000 genomes]
rs646856	1.00[AFR][1000 genomes]
rs6493449	0.81[ASN][1000 genomes]
rs67588397	0.86[ASN][1000 genomes]
rs687549	1.00[AFR][1000 genomes]
rs71395001	0.83[ASN][1000 genomes]
rs71395002	0.94[ASN][1000 genomes]
rs71397503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71397507	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7165492	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165684	0.81[ASN][1000 genomes]
rs7167290	1.00[AFR][1000 genomes]
rs7170445	0.86[ASN][1000 genomes]
rs7173321	0.81[ASN][1000 genomes]
rs7179565	0.84[ASN][1000 genomes]
rs7179641	0.84[ASN][1000 genomes]
rs8029941	0.86[ASN][1000 genomes]
rs8037161	0.81[ASN][1000 genomes]
rs8037587	0.90[ASN][1000 genomes]
rs8042919	1.00[AFR][1000 genomes]
rs9920018	0.86[ASN][1000 genomes]
rs9920083	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv948579	chr15:50645530-51045564	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv1053966	chr15:50715572-51133186	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv542383	chr15:50715572-51133186	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv1043805	chr15:50715572-51208891	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv542384	chr15:50715572-51208891	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
7	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv1051990	chr15:50745814-51133186	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
9	nsv1054970	chr15:50761410-51036625	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv457134	chr15:50770868-51184583	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
11	nsv471242	chr15:50770868-51184583	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
12	nsv569396	chr15:50770868-51184583	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
13	nsv457135	chr15:50770868-51189707	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
14	nsv569397	chr15:50770868-51189707	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
15	nsv1048621	chr15:50775451-51115535	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv1047039	chr15:50782070-51187804	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
17	nsv542385	chr15:50782070-51187804	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
18	nsv457136	chr15:50789125-51294995	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
19	nsv569398	chr15:50789125-51294995	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
20	nsv1036081	chr15:50818569-51097229	Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
21	nsv1055112	chr15:50822035-51133186	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
22	nsv1042372	chr15:50846461-51208891	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
23	nsv542386	chr15:50846461-51208891	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
24	nsv569399	chr15:50874964-51562198	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
25	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
26	nsv1051400	chr15:50890333-51046283	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
27	nsv904212	chr15:50979738-51132170	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50979800-51014000	Weak transcription	Right Ventricle	heart
2	chr15:50980000-50998600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr15:50980200-50991600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr15:50980200-50996200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr15:50980200-51006600	Weak transcription	Fetal Stomach	stomach
6	chr15:50980400-50999200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr15:50980400-50999400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr15:50980400-51003800	Weak transcription	Fetal Intestine Small	intestine
9	chr15:50980400-51013600	Weak transcription	Fetal Lung	lung
10	chr15:50981400-50996600	Weak transcription	Placenta	Placenta
11	chr15:50985000-50999800	Weak transcription	Primary B cells from cord blood	blood
12	chr15:50985000-51009000	Weak transcription	Primary T cells from cord blood	blood
13	chr15:50987200-50999800	Weak transcription	GM12878-XiMat	blood
14	chr15:50987400-50999200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:50987400-50999800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:50987600-50997200	Weak transcription	Fetal Muscle Leg	muscle
17	chr15:50988000-51056800	Weak transcription	Esophagus	oesophagus
18	chr15:50988200-50993200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:50988200-51021600	Weak transcription	Pancreas	Pancrea
20	chr15:50988400-50998600	Weak transcription	Brain Germinal Matrix	brain
21	chr15:50988400-51010800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr15:50989600-50993400	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr15:50989800-50998600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:50989800-51011000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr15:50990000-50994600	Weak transcription	NHDF-Ad	bronchial
26	chr15:50990000-51008800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr15:50990000-51013600	Weak transcription	A549	lung
28	chr15:50990000-51015400	Weak transcription	NH-A	brain
29	chr15:50990000-51038800	Weak transcription	NHLF	lung
30	chr15:50990200-50995000	Weak transcription	Osteobl	bone
31	chr15:50990200-50998200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:50990200-51021600	Weak transcription	Psoas Muscle	Psoas
33	chr15:50990600-50999600	Weak transcription	Adipose Nuclei	Adipose
34	chr15:50990800-50994800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr15:50990800-50996800	Weak transcription	Liver	Liver
36	chr15:50990800-50999600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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