Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94373479..94375777-chr1:94457212..94459458,2	MCF-7	breast:
2	chr1:94458162..94461024-chr1:94475606..94477649,2	K562	blood:

Variant related genes	Relation type
ENSG00000198691	Chromatin interaction
ENSG00000023909	Chromatin interaction

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12028321	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12028322	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110714	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28695776	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs487906	1.00[CEU][hapmap]
rs565155	1.00[CEU][hapmap]

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	nsv516137	chr1:94404238-94504545	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94446200-94463400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:94452400-94463800	Enhancers	HMEC	breast
3	chr1:94452800-94462400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:94452800-94464000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:94455400-94459200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:94455800-94458600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:94456000-94458600	Weak transcription	HSMMtube	muscle
8	chr1:94456000-94458600	Weak transcription	NH-A	brain
9	chr1:94456000-94459000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:94456200-94458600	Weak transcription	HSMM	muscle
11	chr1:94456200-94458600	Weak transcription	Osteobl	bone
12	chr1:94457000-94461400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:94457600-94459200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr1:94457800-94458600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:94458000-94459800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:94458200-94458600	Flanking Active TSS	Liver	Liver
17	chr1:94458200-94459000	Flanking Active TSS	HepG2	liver
18	chr1:94458200-94459200	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr1:94458200-94462000	Enhancers	NHEK	skin
20	chr1:94458400-94458600	Flanking Active TSS	Duodenum Mucosa	Duodenum

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