Variant report

Variant	rs62552126
Chromosome Location	chr9:71383812-71383813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:71382624..71385471-chr9:71389854..71391837,2	K562	blood:
2	chr9:71382779..71384863-chr9:71399277..71400843,2	MCF-7	breast:
3	chr9:71381625..71383814-chr9:71394879..71397265,2	K562	blood:

Variant related genes	Relation type
ENSG00000187866	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11142867	1.00[ASN][1000 genomes]
rs11143608	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143691	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143697	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143715	0.82[EUR][1000 genomes]
rs11143731	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143741	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144027	1.00[ASN][1000 genomes]
rs12000088	1.00[ASN][1000 genomes]
rs12339235	0.80[EUR][1000 genomes]
rs12552102	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12555728	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1412987	1.00[ASN][1000 genomes]
rs4623507	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62552125	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62552127	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62552128	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62552130	1.00[ASN][1000 genomes]
rs62552131	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717924	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs950786	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71371200-71384600	Weak transcription	Stomach Mucosa	stomach
2	chr9:71374000-71388800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr9:71378000-71388400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:71378400-71394200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:71378800-71393800	Weak transcription	Primary B cells from cord blood	blood
6	chr9:71378800-71393800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr9:71379000-71386000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr9:71379000-71389000	Weak transcription	K562	blood
9	chr9:71383000-71384000	Enhancers	Fetal Heart	heart
10	chr9:71383000-71384400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:71383000-71388800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:71383200-71385000	Enhancers	Brain Germinal Matrix	brain
13	chr9:71383200-71385400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr9:71383400-71384000	Weak transcription	Fetal Intestine Small	intestine
15	chr9:71383400-71385400	Weak transcription	Right Ventricle	heart
16	chr9:71383600-71384000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr9:71383600-71393800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr9:71383800-71384000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr9:71383800-71384200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr9:71383800-71393600	Weak transcription	Left Ventricle	heart

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