Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:173299888..173302293-chr1:173313328..173315226,3	K562	blood:
2	chr1:173299256..173302223-chr1:173313691..173316429,3	K562	blood:
3	chr1:173306339..173310503-chr1:173312166..173315307,4	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10798270	1.00[EUR][1000 genomes]
rs1418192	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16845740	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1832846	0.85[AMR][1000 genomes]
rs1832847	1.00[EUR][1000 genomes]
rs2422342	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2422428	1.00[EUR][1000 genomes]
rs4916329	1.00[EUR][1000 genomes]
rs6669012	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6671598	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6678135	1.00[EUR][1000 genomes]
rs6681901	1.00[CEU][hapmap]
rs6689832	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6696532	1.00[EUR][1000 genomes]
rs6700353	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73039105	1.00[EUR][1000 genomes]
rs73039113	1.00[EUR][1000 genomes]
rs73039196	1.00[EUR][1000 genomes]
rs73041112	1.00[EUR][1000 genomes]
rs73041128	1.00[EUR][1000 genomes]
rs7529929	1.00[CEU][hapmap]
rs7544153	1.00[EUR][1000 genomes]
rs947503	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv523009	chr1:173305632-173324296	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 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	chr1:173299200-173316600	Weak transcription	Brain Angular Gyrus	brain
2	chr1:173299800-173316600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:173300600-173329200	Weak transcription	Primary T cells from cord blood	blood
4	chr1:173301400-173321200	Weak transcription	Ovary	ovary
5	chr1:173309200-173324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:173311400-173315000	Weak transcription	Gastric	stomach
7	chr1:173311400-173315200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:173311600-173315200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:173311800-173334000	Weak transcription	HSMMtube	muscle
10	chr1:173312000-173315000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:173312000-173315000	Weak transcription	HSMM	muscle
12	chr1:173314800-173315000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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