Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175331977..175334128-chr1:175335183..175337534,2	K562	blood:
2	chr1:175335655..175338184-chr1:175339358..175341274,2	K562	blood:

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

rs_ID	r²[population]
rs10489312	1.00[CHB][hapmap]
rs10912966	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11800933	1.00[ASN][1000 genomes]
rs16848218	1.00[ASN][1000 genomes]
rs16848281	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17304735	1.00[ASN][1000 genomes]
rs17375910	1.00[ASN][1000 genomes]
rs17376706	1.00[ASN][1000 genomes]
rs17376819	1.00[ASN][1000 genomes]
rs35604600	1.00[ASN][1000 genomes]
rs61805066	1.00[ASN][1000 genomes]
rs61805071	1.00[ASN][1000 genomes]
rs61806379	1.00[ASN][1000 genomes]
rs61806380	1.00[ASN][1000 genomes]
rs61808381	1.00[ASN][1000 genomes]
rs6425350	1.00[ASN][1000 genomes]
rs6662518	1.00[ASN][1000 genomes]
rs6683510	1.00[ASN][1000 genomes]
rs742093	1.00[ASN][1000 genomes]
rs983058	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949473	chr1:175151666-175391741	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv831948	chr1:175229631-175407303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2754341	chr1:175333392-175341021	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175284200-175343000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:175288800-175343200	Weak transcription	Brain Angular Gyrus	brain
3	chr1:175288800-175343200	Weak transcription	Brain Substantia Nigra	brain
4	chr1:175319400-175340000	Weak transcription	Fetal Brain Female	brain
5	chr1:175321800-175336600	Weak transcription	Brain Germinal Matrix	brain
6	chr1:175331400-175343200	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:175332600-175336800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:175332600-175343000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:175333200-175343200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:175335000-175340200	Enhancers	Placenta	Placenta
11	chr1:175335400-175337200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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