Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173331890..173333872-chr1:173351008..173353546,2	K562	blood:

Variant related genes	Relation type
ENSG00000231615	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10798270	1.00[EUR][1000 genomes]
rs1418192	1.00[CEU][hapmap]
rs1418193	1.00[EUR][1000 genomes]
rs16845740	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1832847	1.00[EUR][1000 genomes]
rs2422342	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2422428	1.00[EUR][1000 genomes]
rs4916329	1.00[EUR][1000 genomes]
rs6669012	1.00[EUR][1000 genomes]
rs6671598	1.00[EUR][1000 genomes]
rs6678135	1.00[EUR][1000 genomes]
rs6681901	1.00[CEU][hapmap]
rs6696532	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6700353	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73039105	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73039113	1.00[EUR][1000 genomes]
rs73039196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73041112	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73041128	1.00[EUR][1000 genomes]
rs7529929	1.00[CEU][hapmap]
rs7544153	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs947503	1.00[CEU][hapmap];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	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173330400-173355400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:173345600-173368000	Weak transcription	Primary T cells from cord blood	blood
3	chr1:173346800-173363800	Weak transcription	Aorta	Aorta
4	chr1:173347200-173375000	Weak transcription	Spleen	Spleen
5	chr1:173348600-173389400	Weak transcription	Right Ventricle	heart
6	chr1:173352200-173353000	Enhancers	NH-A	brain
7	chr1:173352200-173353200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:173352200-173353200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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