Variant report

Variant	rs55863868
Chromosome Location	chr2:172888509-172888510
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	chr2:172866012..172868252-chr2:172888365..172889925,2	K562	blood:
2	chr2:172888478..172891307-chr2:172961439..172963560,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1008152	0.94[AMR][1000 genomes]
rs17428174	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500114	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55791993	0.84[AMR][1000 genomes]
rs56218609	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62183804	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183808	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183809	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183811	0.86[AMR][1000 genomes]
rs62183817	0.83[AMR][1000 genomes]
rs62183851	0.83[AMR][1000 genomes]
rs62183852	0.94[AMR][1000 genomes]
rs62183853	0.83[AMR][1000 genomes]
rs6704590	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737876	0.94[AMR][1000 genomes]
rs6749895	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761111	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72892835	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72892859	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs788161	0.84[AMR][1000 genomes]
rs788168	0.85[AMR][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	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1012188	chr2:172855923-172928891	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172865600-172897400	Weak transcription	Primary T cells from cord blood	blood
2	chr2:172878600-172898200	Weak transcription	Primary B cells from cord blood	blood
3	chr2:172886800-172889600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:172886800-172892800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:172887000-172893200	Weak transcription	Fetal Heart	heart
6	chr2:172887200-172892600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:172887200-172892600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:172887200-172892600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:172887200-172892800	Weak transcription	Brain Germinal Matrix	brain
10	chr2:172887200-172894000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:172887200-172894600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:172887200-172896600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:172887400-172888600	Enhancers	NHDF-Ad	bronchial
14	chr2:172887400-172888600	Enhancers	Osteobl	bone
15	chr2:172887400-172892600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:172887400-172892600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:172887400-172892800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:172887400-172892800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:172887400-172892800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:172887400-172902800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:172887600-172888600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:172887600-172892400	Weak transcription	HepG2	liver
23	chr2:172887600-172892600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:172887600-172892600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:172887600-172892800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:172887600-172892800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:172888000-172888600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:172888000-172890000	Enhancers	K562	blood
29	chr2:172888400-172888600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:172888400-172888600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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