Variant report

Variant	rs58651473
Chromosome Location	chr2:11633057-11633058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11631289..11634219-chr2:11636050..11638651,2	K562	blood:
2	chr2:11624861..11626975-chr2:11632564..11634549,2	K562	blood:
3	chr2:11632468..11634815-chr2:11657787..11660760,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10169987	1.00[EUR][1000 genomes]
rs10174895	1.00[EUR][1000 genomes]
rs10201673	1.00[EUR][1000 genomes]
rs10205078	1.00[EUR][1000 genomes]
rs10929750	1.00[EUR][1000 genomes]
rs12165170	1.00[EUR][1000 genomes]
rs13388093	1.00[EUR][1000 genomes]
rs2043542	1.00[EUR][1000 genomes]
rs4668729	1.00[EUR][1000 genomes]
rs4669736	1.00[EUR][1000 genomes]
rs4669737	1.00[EUR][1000 genomes]
rs4669739	1.00[EUR][1000 genomes]
rs4669740	1.00[EUR][1000 genomes]
rs6432209	1.00[EUR][1000 genomes]
rs6719003	1.00[EUR][1000 genomes]
rs6719009	1.00[EUR][1000 genomes]
rs6739168	1.00[EUR][1000 genomes]
rs6741736	1.00[EUR][1000 genomes]
rs6756327	1.00[EUR][1000 genomes]
rs7566661	1.00[EUR][1000 genomes]
rs7597865	1.00[EUR][1000 genomes]
rs875231	1.00[EUR][1000 genomes]
rs877164	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11623800-11636000	Weak transcription	Pancreas	Pancrea
2	chr2:11624000-11638600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:11625800-11634200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:11629000-11638600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:11629600-11633200	Genic enhancers	HepG2	liver
6	chr2:11630600-11635400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:11631600-11633200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:11631800-11633400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:11632000-11633200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:11632000-11633200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:11632000-11633200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:11632000-11633200	Enhancers	Fetal Stomach	stomach
13	chr2:11632200-11633200	Enhancers	Fetal Muscle Trunk	muscle
14	chr2:11632200-11633200	Enhancers	Right Ventricle	heart
15	chr2:11632200-11633400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:11632400-11633200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr2:11632400-11633400	Bivalent Enhancer	Placenta	Placenta
18	chr2:11632400-11636000	Weak transcription	Fetal Lung	lung
19	chr2:11632400-11638600	Weak transcription	Psoas Muscle	Psoas
20	chr2:11632600-11633200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:11632600-11633200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:11632600-11633200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:11632600-11633400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:11632600-11633600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:11632800-11633200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:11632800-11633200	Enhancers	Fetal Muscle Leg	muscle
27	chr2:11632800-11633200	Enhancers	Stomach Smooth Muscle	stomach
28	chr2:11633000-11633400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:11633000-11634200	Weak transcription	Ovary	ovary
30	chr2:11633000-11634400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr2:11633000-11635200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:11633000-11635600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:11633000-11635800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr2:11633000-11638400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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