Variant report

Variant	rs73926619
Chromosome Location	chr2:40588166-40588167
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40586222..40589135-chr2:40597627..40599804,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55773267	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56281318	0.84[AFR][1000 genomes]
rs61377059	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72939995	0.85[AMR][1000 genomes]
rs72941959	0.87[AMR][1000 genomes]
rs72943169	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1010508	chr2:40526981-40590777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv535655	chr2:40526981-40590777	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv873915	chr2:40573350-40615520	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40552800-40590600	Weak transcription	Fetal Kidney	kidney
2	chr2:40574600-40590600	Weak transcription	Aorta	Aorta
3	chr2:40581200-40590400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:40581200-40591800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr2:40581600-40591600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:40584400-40588800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:40584800-40589000	Enhancers	Osteobl	bone
8	chr2:40585200-40590800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:40586200-40590800	Weak transcription	Brain Anterior Caudate	brain
10	chr2:40586400-40592000	Weak transcription	Left Ventricle	heart
11	chr2:40586800-40593800	Enhancers	Fetal Heart	heart
12	chr2:40587400-40588800	Enhancers	NHDF-Ad	bronchial
13	chr2:40587600-40588200	Enhancers	NH-A	brain
14	chr2:40587600-40588400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:40587600-40588400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:40587600-40588400	Enhancers	Colon Smooth Muscle	Colon
17	chr2:40587600-40588400	Enhancers	Rectal Smooth Muscle	rectum
18	chr2:40587600-40588400	Enhancers	Right Atrium	heart
19	chr2:40587600-40588600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:40587600-40588600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:40587600-40588600	Enhancers	HSMMtube	muscle
22	chr2:40587600-40588600	Enhancers	NHLF	lung
23	chr2:40587600-40588800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:40587600-40588800	Enhancers	HSMM	muscle
25	chr2:40587600-40590600	Enhancers	Hela-S3	cervix
26	chr2:40587600-40591000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:40587800-40588200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:40587800-40588400	Enhancers	Stomach Smooth Muscle	stomach
29	chr2:40587800-40588400	Enhancers	HMEC	breast
30	chr2:40588000-40588400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:40588000-40590200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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