Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145838780..145841438-chr2:145864698..145867568,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10496974	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12988894	0.88[ASN][1000 genomes]
rs13002944	0.83[ASN][1000 genomes]
rs13014698	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13035660	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1509563	0.84[ASN][1000 genomes]
rs1509564	0.84[ASN][1000 genomes]
rs16824481	0.86[ASN][1000 genomes]
rs16824484	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1852681	0.86[ASN][1000 genomes]
rs1997287	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28409418	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28534561	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28837998	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35541381	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35690045	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4144811	0.84[ASN][1000 genomes]
rs67571782	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs68088326	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7426239	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[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	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv875262	chr2:145830053-145888369	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv875263	chr2:145830053-145892427	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv875264	chr2:145830053-145911634	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1004846	chr2:145852801-145919056	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145854600-145868000	Weak transcription	NH-A	brain
2	chr2:145854800-145868400	Weak transcription	HSMMtube	muscle
3	chr2:145857600-145881200	Weak transcription	Ovary	ovary
4	chr2:145861600-145866600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:145863400-145868000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:145863800-145869200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:145864200-145868000	Weak transcription	NHEK	skin
8	chr2:145864200-145868600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:145864600-145868000	Weak transcription	HMEC	breast
10	chr2:145864600-145868400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:145866000-145866800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:145866000-145867600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:145866000-145868800	Enhancers	NHDF-Ad	bronchial
14	chr2:145866200-145867800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:145866200-145868800	Enhancers	HSMM	muscle
16	chr2:145866400-145866800	Enhancers	HepG2	liver
17	chr2:145866400-145868000	Weak transcription	NHLF	lung

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