Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:6966176..6966703-chr2:7237030..7237946,2	K562	blood:
2	chr2:7229093..7231064-chr2:7236083..7237840,2	K562	blood:
3	chr2:7236959..7238040-chr2:7251483..7252448,5	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1453124	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17624427	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2278885	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4668520	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4669132	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55821141	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6431849	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7585673	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[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	nsv915888	chr2:7197783-7461967	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv437276	chr2:7229170-7246387	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv437277	chr2:7229170-7246387	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7224600-7237400	Weak transcription	Dnd41	blood
2	chr2:7226400-7237600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:7232000-7237600	Weak transcription	Ovary	ovary
4	chr2:7233800-7237800	Weak transcription	Gastric	stomach
5	chr2:7234400-7237400	Weak transcription	Fetal Heart	heart
6	chr2:7234600-7237200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:7234600-7237600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:7234800-7237600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:7234800-7237600	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:7234800-7249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:7235000-7237600	Weak transcription	Primary T cells from cord blood	blood
12	chr2:7235200-7237600	Weak transcription	Fetal Lung	lung
13	chr2:7235400-7237600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:7235400-7237600	Weak transcription	Fetal Intestine Large	intestine
15	chr2:7235400-7237600	Weak transcription	Pancreas	Pancrea
16	chr2:7235600-7237400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:7235600-7237600	Weak transcription	Fetal Kidney	kidney
18	chr2:7235800-7237800	Weak transcription	Spleen	Spleen
19	chr2:7236800-7237800	Enhancers	NH-A	brain
20	chr2:7236800-7238000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:7237000-7237200	Bivalent Enhancer	Placenta	Placenta
22	chr2:7237000-7237400	Enhancers	Brain Angular Gyrus	brain

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