Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78466099..78472038-chr1:78511575..78517585,8	K562	blood:
2	chr1:78508048..78509852-chr1:78513498..78515009,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1001070	0.81[AMR][1000 genomes]
rs10747356	0.82[AFR][1000 genomes]
rs12404652	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12409081	1.00[ASN][1000 genomes]
rs1749912	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1780051	0.87[AFR][1000 genomes]
rs1984298	1.00[ASN][1000 genomes]
rs4245659	0.87[AFR][1000 genomes]
rs504388	0.82[AMR][1000 genomes]
rs599987	1.00[ASN][1000 genomes]
rs661038	0.82[AMR][1000 genomes]
rs664818	0.82[AMR][1000 genomes]
rs684579	0.80[AMR][1000 genomes]
rs693127	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7531525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78512600-78519800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:78513000-78515200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:78513000-78515600	Enhancers	Fetal Heart	heart
4	chr1:78513000-78521800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:78513200-78515000	Enhancers	Liver	Liver
6	chr1:78513200-78518600	Weak transcription	Adipose Nuclei	Adipose
7	chr1:78513200-78520600	Weak transcription	Pancreas	Pancrea
8	chr1:78513600-78515600	Weak transcription	Right Ventricle	heart
9	chr1:78513600-78515800	Weak transcription	Fetal Intestine Small	intestine
10	chr1:78513600-78517400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:78513600-78517600	Weak transcription	Psoas Muscle	Psoas
12	chr1:78513600-78521200	Weak transcription	Stomach Mucosa	stomach
13	chr1:78513800-78515000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:78513800-78515200	Enhancers	Fetal Intestine Large	intestine
15	chr1:78513800-78515400	Enhancers	HepG2	liver
16	chr1:78513800-78520000	Weak transcription	HSMM	muscle
17	chr1:78514200-78517600	Weak transcription	HUVEC	blood vessel
18	chr1:78514400-78519200	Weak transcription	Small Intestine	intestine
19	chr1:78514600-78515400	Enhancers	Duodenum Mucosa	Duodenum
20	chr1:78514600-78515800	Enhancers	Left Ventricle	heart
21	chr1:78514800-78515400	Enhancers	Skeletal Muscle Female	skeletal muscle

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