Variant report

Variant	rs55929619
Chromosome Location	chr2:40652731-40652732
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11681856	0.94[AMR][1000 genomes]
rs11683359	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11684372	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17466980	0.84[EUR][1000 genomes]
rs6705173	0.82[EUR][1000 genomes]
rs6742827	0.88[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	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	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
4	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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40623600-40655000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:40642800-40654600	Weak transcription	HSMM	muscle
3	chr2:40644200-40656000	Weak transcription	HMEC	breast
4	chr2:40644200-40656400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:40644200-40658600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:40646200-40655800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:40646400-40654200	Weak transcription	Fetal Brain Male	brain
8	chr2:40646400-40658200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:40646600-40670800	Weak transcription	Fetal Brain Female	brain
10	chr2:40646800-40657800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:40647600-40662200	Weak transcription	Brain Germinal Matrix	brain
12	chr2:40647800-40655600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:40647800-40658200	Weak transcription	Osteobl	bone
14	chr2:40648000-40658200	Weak transcription	Brain Anterior Caudate	brain
15	chr2:40648000-40667200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:40648200-40676400	Weak transcription	Fetal Kidney	kidney
17	chr2:40648400-40658200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:40649200-40658400	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:40649200-40658400	Weak transcription	NH-A	brain
20	chr2:40649400-40654600	Weak transcription	Left Ventricle	heart
21	chr2:40649400-40655600	Weak transcription	NHLF	lung
22	chr2:40649400-40655800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:40649400-40656000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:40649400-40656000	Weak transcription	Right Ventricle	heart
25	chr2:40649400-40657400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:40649400-40658200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:40649400-40658200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:40649400-40658400	Weak transcription	Aorta	Aorta
29	chr2:40649600-40655600	Weak transcription	Fetal Stomach	stomach
30	chr2:40649800-40654600	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:40649800-40655400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:40649800-40655400	Weak transcription	Dnd41	blood
33	chr2:40650000-40654200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:40651000-40654800	Enhancers	Fetal Heart	heart
35	chr2:40652600-40658000	Strong transcription	Monocytes-CD14+_RO01746	blood

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