Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:210545087..210549192-chr1:210563139..210569683,17	K562	blood:
2	chr1:210557629..210560572-chr1:210562217..210564495,2	MCF-7	breast:
3	chr1:210554692..210557486-chr1:210561953..210564729,2	K562	blood:
4	chr1:210560782..210563745-chr1:210565066..210566906,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10489384	1.00[AMR][1000 genomes]
rs10489389	1.00[EUR][1000 genomes]
rs12088457	1.00[EUR][1000 genomes]
rs12088691	1.00[EUR][1000 genomes]
rs1342134	1.00[EUR][1000 genomes]
rs17015995	1.00[EUR][1000 genomes]
rs17015999	1.00[EUR][1000 genomes]
rs17016011	1.00[EUR][1000 genomes]
rs17276856	1.00[EUR][1000 genomes]
rs41354049	1.00[AMR][1000 genomes]
rs55684632	1.00[EUR][1000 genomes]
rs55934820	1.00[EUR][1000 genomes]
rs56017967	1.00[EUR][1000 genomes]
rs57841462	1.00[EUR][1000 genomes]
rs58060889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61384712	1.00[EUR][1000 genomes]
rs73071940	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73071956	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73071958	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73071959	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73071965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071973	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74156110	1.00[EUR][1000 genomes]
rs74156112	1.00[EUR][1000 genomes]
rs74156113	1.00[EUR][1000 genomes]
rs74156114	1.00[EUR][1000 genomes]
rs74156116	1.00[EUR][1000 genomes]
rs74156118	1.00[EUR][1000 genomes]
rs74156121	1.00[EUR][1000 genomes]
rs74156122	1.00[EUR][1000 genomes]
rs74156123	1.00[EUR][1000 genomes]
rs74156149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9970953	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210529600-210586000	Weak transcription	Pancreas	Pancrea
2	chr1:210538400-210565600	Weak transcription	Esophagus	oesophagus
3	chr1:210543200-210565200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:210546600-210566200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:210548600-210566400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:210551200-210566600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:210551400-210586000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:210559000-210584400	Weak transcription	Fetal Stomach	stomach
9	chr1:210559200-210565400	Weak transcription	HSMM	muscle
10	chr1:210560200-210566800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:210562400-210566400	Weak transcription	Left Ventricle	heart
12	chr1:210562600-210563400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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