Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37750494..37753126-chr2:37755282..37758180,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10176881	0.90[ASN][1000 genomes]
rs10181174	0.89[ASN][1000 genomes]
rs11124590	0.91[ASN][1000 genomes]
rs11887848	0.82[ASN][1000 genomes]
rs11888402	0.90[ASN][1000 genomes]
rs11895388	0.91[ASN][1000 genomes]
rs12612951	0.82[ASN][1000 genomes]
rs13002383	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13432740	0.90[ASN][1000 genomes]
rs34752978	0.91[ASN][1000 genomes]
rs35422160	0.89[ASN][1000 genomes]
rs35574342	0.81[ASN][1000 genomes]
rs35745581	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35990829	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233923	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4404250	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4670208	0.82[ASN][1000 genomes]
rs4670724	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4670730	0.82[ASN][1000 genomes]
rs6712065	0.91[ASN][1000 genomes]
rs67348553	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72795708	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833814	chr2:37643132-37840247	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv456374	chr2:37669487-37868214	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv470453	chr2:37669487-37868214	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv581473	chr2:37669487-37868214	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37751600-37758600	Weak transcription	HMEC	breast
2	chr2:37751600-37763000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:37751800-37757000	Weak transcription	NHLF	lung
4	chr2:37751800-37757200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:37752400-37757200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:37752600-37756600	Weak transcription	NHDF-Ad	bronchial
7	chr2:37752600-37757000	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:37752600-37757200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:37752800-37757000	Weak transcription	Fetal Stomach	stomach
10	chr2:37752800-37757200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:37752800-37759400	Weak transcription	Fetal Heart	heart
12	chr2:37752800-37763000	Weak transcription	Psoas Muscle	Psoas
13	chr2:37754000-37758000	Enhancers	Colon Smooth Muscle	Colon
14	chr2:37754200-37756600	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:37754600-37757000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:37754800-37760200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr2:37755600-37757600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:37756000-37757000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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