Variant report

Variant	rs58191283
Chromosome Location	chr3:50186685-50186686
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50157890..50164898-chr3:50186493..50191745,15	MCF-7	breast:
2	chr3:50180386..50182514-chr3:50184277..50186852,2	MCF-7	breast:
3	chr3:50177059..50182253-chr3:50182281..50187344,5	K562	blood:
4	chr3:50177059..50182253-chr3:50182281..50187344,7	K562	blood:
5	chr3:50179614..50181665-chr3:50184380..50186772,2	MCF-7	breast:
6	chr3:50171724..50175454-chr3:50183857..50186951,3	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1005678	0.85[ASN][1000 genomes]
rs11130248	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12054052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12054403	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12485286	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12485390	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12485909	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12487392	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12488235	0.91[AMR][1000 genomes]
rs12488302	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12490809	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12490837	0.82[EUR][1000 genomes]
rs12491177	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12492683	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12492880	0.91[AMR][1000 genomes]
rs12493693	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12494414	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12495261	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12496815	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12497018	1.00[AFR][1000 genomes]
rs12498048	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12632110	0.87[ASN][1000 genomes]
rs12721544	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2006199	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2021734	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2071203	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2071204	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2071205	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2071801	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2071804	0.82[EUR][1000 genomes]
rs2072053	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2072054	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2073497	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2073500	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2229647	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2233476	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2236943	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2236946	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2236949	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2269430	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2269432	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2269568	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2282750	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2285043	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2285044	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2624838	0.89[ASN][1000 genomes]
rs2624839	0.83[ASN][1000 genomes]
rs3213621	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35455589	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35587949	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3774736	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3774739	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3774741	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3774748	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3774752	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3774754	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3774755	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4141407	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4688679	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4688682	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4688683	0.84[AMR][1000 genomes]
rs4688722	1.00[AFR][1000 genomes]
rs4688724	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4688725	0.82[EUR][1000 genomes]
rs4688728	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4688732	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4688733	0.82[EUR][1000 genomes]
rs4688734	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4688736	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4688738	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4688741	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4688742	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4688743	0.87[AMR][1000 genomes]
rs4688744	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4688746	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4688747	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57944420	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57978992	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58137261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58181992	0.82[EUR][1000 genomes]
rs60276643	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72932959	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72932987	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7645537	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9311449	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9681992	0.84[AMR][1000 genomes]
rs9882618	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834690	chr3:50101835-50267584	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv515986	chr3:50104307-50267584	Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv432418	chr3:50114496-50224196	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1001775	chr3:50129479-50311666	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv876768	chr3:50144951-50267584	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
7	nsv1013949	chr3:50151712-50339163	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv590250	chr3:50153356-50332697	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv876769	chr3:50155468-50408398	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
10	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
11	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
12	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
13	nsv590251	chr3:50158774-50337422	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
14	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
15	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
16	nsv523560	chr3:50172397-50339163	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
17	nsv460529	chr3:50178011-50324672	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
18	nsv460530	chr3:50178011-50324672	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
19	nsv590252	chr3:50178011-50324672	Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50177200-50191800	Weak transcription	Right Ventricle	heart
2	chr3:50177600-50191000	Weak transcription	Lung	lung
3	chr3:50177800-50187200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:50178600-50187400	Weak transcription	Spleen	Spleen
5	chr3:50183000-50187400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:50183600-50192000	Enhancers	Esophagus	oesophagus
7	chr3:50183800-50189800	Enhancers	Fetal Stomach	stomach
8	chr3:50184000-50187400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:50184000-50187600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:50184000-50187600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:50184200-50187400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:50184400-50187600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:50184600-50187400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:50185000-50187200	Enhancers	HepG2	liver
15	chr3:50185000-50189600	Enhancers	Fetal Lung	lung
16	chr3:50185200-50187600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:50185200-50188200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:50185600-50187200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:50185600-50187200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:50185600-50187400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:50185600-50187600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:50185600-50187600	Weak transcription	NHEK	skin
23	chr3:50185800-50187200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:50185800-50187400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr3:50185800-50187400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr3:50185800-50187400	Weak transcription	Placenta	Placenta
27	chr3:50185800-50187600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:50186000-50187400	Weak transcription	Fetal Muscle Leg	muscle
29	chr3:50186200-50187400	Weak transcription	Fetal Thymus	thymus
30	chr3:50186200-50187600	Weak transcription	Fetal Kidney	kidney
31	chr3:50186200-50188400	Weak transcription	Fetal Brain Male	brain
32	chr3:50186200-50191600	Weak transcription	Fetal Brain Female	brain
33	chr3:50186400-50187600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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