Variant report

Variant	rs10890305
Chromosome Location	chr1:44938354-44938355
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	chr1:44933228..44934904-chr1:44938243..44940696,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11211005	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11211006	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs781783	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1010785	chr1:44407804-44974324	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv534938	chr1:44407804-44974324	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv829715	chr1:44772309-44947790	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
6	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
7	nsv461395	chr1:44898998-45119965	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
8	nsv546144	chr1:44898998-45119965	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 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	chr1:44908800-44938400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:44937600-44938400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:44937800-44938400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:44937800-44938400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:44937800-44938800	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr1:44937800-44938800	Enhancers	Brain Substantia Nigra	brain
7	chr1:44937800-44939000	Enhancers	Primary B cells from peripheral blood	blood
8	chr1:44937800-44939400	Enhancers	Primary hematopoietic stem cells	blood
9	chr1:44937800-44939400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:44937800-44939600	Enhancers	Brain Cingulate Gyrus	brain
11	chr1:44938000-44938400	Enhancers	Colon Smooth Muscle	Colon
12	chr1:44938000-44938800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:44938000-44938800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:44938000-44938800	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr1:44938000-44938800	Enhancers	Fetal Lung	lung
16	chr1:44938000-44939000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr1:44938000-44939000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:44938000-44939000	Enhancers	Brain Angular Gyrus	brain
19	chr1:44938000-44939200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr1:44938000-44939400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:44938000-44939600	Enhancers	Brain Hippocampus Middle	brain
22	chr1:44938200-44938400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:44938200-44938400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:44938200-44938400	Enhancers	Adipose Nuclei	Adipose
25	chr1:44938200-44938400	Bivalent Enhancer	Brain Anterior Caudate	brain
26	chr1:44938200-44938600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:44938200-44938800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:44938200-44938800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr1:44938200-44938800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:44938200-44938800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:44938200-44938800	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr1:44938200-44939000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr1:44938200-44939000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:44938200-44939000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr1:44938200-44939000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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