Variant report

Variant	rs12713104
Chromosome Location	chr2:50753247-50753248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:50748617..50751233-chr2:50751871..50754542,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1006138	0.87[ASN][1000 genomes]
rs1014430	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10168080	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10176959	0.82[ASN][1000 genomes]
rs10183541	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10187846	0.81[ASN][1000 genomes]
rs10190305	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10191072	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1019318	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10199840	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10207057	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10210592	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10211193	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1030050	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13012186	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13034257	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1984957	0.88[ASN][1000 genomes]
rs2041868	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2041869	0.81[ASN][1000 genomes]
rs2058751	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2058752	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2066948	0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2111065	0.81[ASN][1000 genomes]
rs2111066	0.81[ASN][1000 genomes]
rs2111069	0.80[ASN][1000 genomes]
rs2160448	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2160449	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2216171	0.81[ASN][1000 genomes]
rs6545172	0.81[ASN][1000 genomes]
rs6545173	0.82[ASN][1000 genomes]
rs6545174	0.85[ASN][1000 genomes]
rs6545175	0.92[ASN][1000 genomes]
rs6545176	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6545177	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6545178	0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6713061	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6722389	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6732076	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6753552	0.85[ASN][1000 genomes]
rs7564428	0.87[ASN][1000 genomes]
rs7566514	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs759505	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs759506	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492164	chr2:50399251-51029090	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1000653	chr2:50417660-51083470	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv535693	chr2:50417660-51083470	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv948361	chr2:50611076-50785178	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv933786	chr2:50628354-50780185	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1010510	chr2:50649641-51011565	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv535694	chr2:50649641-51011565	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv532650	chr2:50675808-51136752	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv491644	chr2:50680795-50892906	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv498102	chr2:50680795-50937503	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv532651	chr2:50712339-50758351	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv532681	chr2:50715261-51172182	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv933959	chr2:50722885-50858529	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv915896	chr2:50725664-51057797	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv498101	chr2:50725729-50937503	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50752000-50754000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:50752000-50754200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:50752200-50753400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:50752400-50753400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:50752400-50753400	Enhancers	HMEC	breast
6	chr2:50752600-50753400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:50752600-50753400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:50752600-50753400	Enhancers	NHEK	skin
9	chr2:50752600-50753800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:50752600-50754000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:50752600-50754000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:50753200-50753400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:50753200-50756600	Weak transcription	Brain Germinal Matrix	brain

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