Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:26460527..26461421-chr4:26721272..26722269,7	MCF-7	breast:
2	chr4:26460549..26461471-chr4:26721284..26722071,3	K562	blood:

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13119984	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13121359	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13130981	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13144195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17578817	0.82[AMR][1000 genomes]
rs2725299	0.84[AFR][1000 genomes]
rs2725328	0.81[ASN][1000 genomes]
rs2788853	0.89[AFR][1000 genomes]
rs2788858	0.81[ASN][1000 genomes]
rs2788860	0.85[ASN][1000 genomes]
rs33999169	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs946347	0.80[EUR][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	nsv878767	chr4:26451326-26463490	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
2	nsv10468	chr4:26453879-26462957	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
3	esv2757048	chr4:26456267-26461885	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
4	esv2759237	chr4:26456267-26461885	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13144054	CCKAR	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26458000-26466000	Enhancers	Fetal Stomach	stomach
2	chr4:26458600-26462000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:26458800-26461800	Enhancers	Fetal Thymus	thymus
4	chr4:26459000-26462000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:26459400-26462000	Enhancers	Rectal Smooth Muscle	rectum
6	chr4:26460200-26461600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:26460200-26464800	Weak transcription	HSMMtube	muscle
8	chr4:26460800-26462000	Enhancers	NH-A	brain
9	chr4:26461000-26461800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:26461000-26461800	Flanking Active TSS	Osteobl	bone
11	chr4:26461000-26462000	Enhancers	HSMM	muscle
12	chr4:26461200-26461600	Flanking Active TSS	Colon Smooth Muscle	Colon
13	chr4:26461200-26463600	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:26461400-26462000	Enhancers	Stomach Smooth Muscle	stomach
15	chr4:26461400-26462000	Enhancers	NHDF-Ad	bronchial
16	chr4:26461400-26462200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:26461400-26462600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:26461400-26462800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:26461400-26463000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:26461400-26465400	Weak transcription	HepG2	liver

Quick Search: