Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173354554..173358698-chr1:173361290..173364638,4	K562	blood:
2	chr1:173355446..173357414-chr18:5294754..5296618,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198081	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]
rs6689832	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6696532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73039105	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73039113	1.00[EUR][1000 genomes]
rs73039196	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73041112	0.91[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	0.82[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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173345600-173368000	Weak transcription	Primary T cells from cord blood	blood
2	chr1:173346800-173363800	Weak transcription	Aorta	Aorta
3	chr1:173347200-173375000	Weak transcription	Spleen	Spleen
4	chr1:173348600-173389400	Weak transcription	Right Ventricle	heart
5	chr1:173353200-173361000	Weak transcription	HSMM	muscle
6	chr1:173353800-173362000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:173354000-173379800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:173354800-173363800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:173354800-173376000	Weak transcription	Primary B cells from cord blood	blood
10	chr1:173355400-173356000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:173355400-173379800	Weak transcription	Pancreas	Pancrea

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