Variant report

Variant	rs12530565
Chromosome Location	chr7:13056316-13056317
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:13056069..13058196-chr7:13060337..13062403,2	MCF-7	breast:
2	chr7:13056096..13059019-chr7:13091108..13093835,2	K562	blood:
3	chr7:13053595..13056376-chr7:13057496..13060584,3	K562	blood:
4	chr7:12755272..12756942-chr7:13055576..13058177,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10488243	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10950428	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10950431	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10950432	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10950433	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10950434	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11975327	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11983822	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12056050	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12056168	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12056220	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12112648	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12530643	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12530651	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12532653	0.82[ASN][1000 genomes]
rs12533128	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12534513	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12534537	0.88[ASN][1000 genomes]
rs12534546	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12536140	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12536193	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12537378	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12537712	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12539699	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12671480	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12672647	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17166605	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17166608	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17166610	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17166612	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17166614	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17166626	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17166643	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17166651	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17166653	0.82[EUR][1000 genomes]
rs17166658	0.88[EUR][1000 genomes]
rs17166671	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17166673	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17166674	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17166683	0.85[AMR][1000 genomes]
rs17166689	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17166711	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1861237	0.95[ASN][1000 genomes]
rs2005878	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2006291	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2110650	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2160193	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2215950	0.90[ASN][1000 genomes]
rs28639785	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34125302	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34404228	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34932308	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35023832	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35432593	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4636097	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4719347	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4721177	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55957561	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57459966	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59675898	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60020188	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs60345281	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60705466	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61232028	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61639094	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6460997	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6949649	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6950122	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6950438	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6950752	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6956549	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6969769	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6977552	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73259988	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73259991	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73261908	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73261911	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73261913	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73261923	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73261936	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73261954	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73261964	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73261983	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs736198	0.85[AMR][1000 genomes]
rs738052	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs763534	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7777911	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778632	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778887	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7787998	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7789174	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7789528	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7793289	0.84[AMR][1000 genomes]
rs7793405	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7793573	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7797104	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv464384	chr7:12907178-13077065	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv606238	chr7:12907178-13077065	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1029771	chr7:12927648-13153855	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv538736	chr7:12927648-13153855	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1026624	chr7:12963907-13123408	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv887642	chr7:12973609-13067198	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13049200-13057000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:13051600-13056400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:13055000-13059000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:13055200-13056800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:13055400-13061000	Weak transcription	Fetal Brain Male	brain
6	chr7:13055600-13057200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:13055800-13056600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:13055800-13056600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:13055800-13057000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:13055800-13057200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:13055800-13057200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:13055800-13057200	Flanking Active TSS	A549	lung
13	chr7:13055800-13057400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:13055800-13057400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:13055800-13057400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:13055800-13057800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr7:13055800-13057800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:13055800-13059800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:13056000-13056600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:13056000-13056600	Enhancers	Esophagus	oesophagus
21	chr7:13056000-13056600	Flanking Active TSS	HepG2	liver
22	chr7:13056000-13057000	Enhancers	HMEC	breast
23	chr7:13056000-13057200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:13056000-13057200	Enhancers	Fetal Intestine Small	intestine
25	chr7:13056000-13057800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:13056000-13058000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr7:13056000-13058800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:13056200-13056400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr7:13056200-13056400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr7:13056200-13056800	Enhancers	NH-A	brain
31	chr7:13056200-13057000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr7:13056200-13057000	Enhancers	NHEK	skin
33	chr7:13056200-13057600	Enhancers	NHDF-Ad	bronchial
34	chr7:13056200-13057800	Enhancers	Fetal Intestine Large	intestine
35	chr7:13056200-13057800	Enhancers	Rectal Mucosa Donor 31	rectum

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