Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:2337824..2339439-chr12:2339625..2341983,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1006737	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10744560	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10774034	0.86[ASN][1000 genomes]
rs10774035	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774036	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10848642	0.89[ASN][1000 genomes]
rs11062159	0.89[ASN][1000 genomes]
rs11062161	0.89[ASN][1000 genomes]
rs11062162	0.89[ASN][1000 genomes]
rs11062166	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11062170	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1108073	0.89[ASN][1000 genomes]
rs1108074	0.86[ASN][1000 genomes]
rs1108075	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1108221	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1108222	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12311439	0.83[EUR][1000 genomes]
rs12315711	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12424245	0.82[ASN][1000 genomes]
rs2159100	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2190771	0.89[ASN][1000 genomes]
rs3922316	0.89[ASN][1000 genomes]
rs4765904	0.89[ASN][1000 genomes]
rs4765905	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs758170	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs769087	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][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	nsv1040370	chr12:2021395-2671017	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv948400	chr12:2022411-2601363	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr12:2334600-2342600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:2336000-2348000	Weak transcription	NHLF	lung
3	chr12:2336400-2343000	Weak transcription	Aorta	Aorta
4	chr12:2336400-2343200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:2338400-2342800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:2339000-2350600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:2339400-2343400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:2339600-2349800	Weak transcription	Spleen	Spleen
9	chr12:2339800-2342000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:2339800-2343000	Weak transcription	Left Ventricle	heart
11	chr12:2339800-2343200	Weak transcription	Right Atrium	heart
12	chr12:2339800-2344600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:2340000-2342800	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:2340000-2343400	Weak transcription	Right Ventricle	heart
15	chr12:2340200-2343200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:2340800-2343000	Weak transcription	Fetal Heart	heart
17	chr12:2340800-2343600	Enhancers	Osteobl	bone
18	chr12:2341000-2343000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:2341000-2343800	Enhancers	NHDF-Ad	bronchial
20	chr12:2341000-2344200	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:2341200-2342000	Weak transcription	Muscle Satellite Cultured Cells	--

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