Variant report

Variant	rs59554925
Chromosome Location	chr2:11548397-11548398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11545022..11549769-chr2:11549850..11555213,6	K562	blood:
2	chr2:11294562..11296677-chr2:11546990..11549892,2	K562	blood:

Variant related genes	Relation type
ENSG00000162976	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10183250	1.00[EUR][1000 genomes]
rs10803734	1.00[EUR][1000 genomes]
rs13420559	1.00[EUR][1000 genomes]
rs13421766	1.00[EUR][1000 genomes]
rs13424731	1.00[EUR][1000 genomes]
rs16857649	1.00[EUR][1000 genomes]
rs4668728	1.00[EUR][1000 genomes]
rs4669732	1.00[EUR][1000 genomes]
rs4669734	1.00[EUR][1000 genomes]
rs56239196	1.00[EUR][1000 genomes]
rs56252168	1.00[EUR][1000 genomes]
rs56273175	1.00[EUR][1000 genomes]
rs56834951	1.00[EUR][1000 genomes]
rs57251854	1.00[EUR][1000 genomes]
rs58477298	1.00[EUR][1000 genomes]
rs58819315	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60798771	1.00[EUR][1000 genomes]
rs61091666	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61358269	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6432204	1.00[EUR][1000 genomes]
rs6432205	1.00[EUR][1000 genomes]
rs6432206	1.00[EUR][1000 genomes]
rs6710070	1.00[EUR][1000 genomes]
rs6712902	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6739988	1.00[EUR][1000 genomes]
rs73180141	1.00[EUR][1000 genomes]
rs73915200	1.00[EUR][1000 genomes]
rs73915202	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73917203	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73917206	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73917207	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7559230	1.00[EUR][1000 genomes]
rs7565382	1.00[EUR][1000 genomes]
rs7585718	1.00[EUR][1000 genomes]
rs7598673	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7608777	1.00[EUR][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11543600-11548400	Enhancers	Fetal Muscle Leg	muscle
2	chr2:11544600-11551600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:11545000-11552000	Weak transcription	Lung	lung
4	chr2:11545200-11551800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:11545800-11548600	Enhancers	Ovary	ovary
6	chr2:11546000-11548400	Enhancers	Psoas Muscle	Psoas
7	chr2:11546200-11550400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:11546200-11551600	Weak transcription	HUVEC	blood vessel
9	chr2:11546200-11552000	Weak transcription	Right Ventricle	heart
10	chr2:11546600-11584200	Weak transcription	Pancreas	Pancrea
11	chr2:11547000-11549200	Weak transcription	Fetal Intestine Large	intestine
12	chr2:11547000-11551400	Weak transcription	Colonic Mucosa	Colon
13	chr2:11547000-11551400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:11547200-11548400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:11547200-11551400	Weak transcription	Fetal Kidney	kidney
16	chr2:11547400-11549000	Weak transcription	A549	lung
17	chr2:11547400-11549200	Weak transcription	Fetal Intestine Small	intestine
18	chr2:11547400-11549800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:11547400-11550200	Enhancers	NHDF-Ad	bronchial
20	chr2:11547400-11550800	Weak transcription	Right Atrium	heart
21	chr2:11547400-11551000	Weak transcription	Fetal Heart	heart
22	chr2:11547400-11551400	Weak transcription	Adipose Nuclei	Adipose
23	chr2:11547400-11551400	Weak transcription	Placenta	Placenta
24	chr2:11547400-11551400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:11547600-11549200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:11547600-11551200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:11547800-11548400	Enhancers	Small Intestine	intestine
28	chr2:11547800-11549000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:11547800-11550800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:11547800-11551400	Weak transcription	Left Ventricle	heart
31	chr2:11547800-11551400	Weak transcription	Stomach Mucosa	stomach
32	chr2:11547800-11551800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:11548000-11549000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:11548000-11549200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:11548000-11549200	Weak transcription	Hela-S3	cervix
36	chr2:11548000-11549200	Weak transcription	NHLF	lung
37	chr2:11548000-11549200	Weak transcription	Osteobl	bone
38	chr2:11548000-11549400	Weak transcription	K562	blood
39	chr2:11548000-11549600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:11548000-11550200	Weak transcription	Fetal Lung	lung
41	chr2:11548000-11550800	Weak transcription	HepG2	liver
42	chr2:11548000-11551400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr2:11548000-11551400	Weak transcription	Fetal Stomach	stomach
44	chr2:11548000-11551600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:11548000-11551800	Weak transcription	Aorta	Aorta
46	chr2:11548000-11551800	Weak transcription	Brain Anterior Caudate	brain
47	chr2:11548000-11551800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:11548000-11551800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:11548000-11551800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:11548000-11552000	Weak transcription	Brain Substantia Nigra	brain

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