Variant report

Variant	rs993995
Chromosome Location	chr10:22264582-22264583
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:22263916..22265967-chr10:22612361..22613889,2	K562	blood:
2	chr10:22263316..22265504-chr10:22603674..22605954,2	K562	blood:
3	chr10:22258910..22261897-chr10:22263811..22265897,2	K562	blood:
4	chr10:22253497..22257660-chr10:22263642..22266698,3	K562	blood:

Variant related genes	Relation type
ENSG00000148444	Chromatin interaction
ENSG00000269897	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1970468	0.88[AMR][1000 genomes]
rs2666751	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2666755	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2807972	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2807977	0.94[AMR][1000 genomes];1.00[ASN][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	esv1802317	chr10:21866085-22288132	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	esv1793816	chr10:22088054-22285371	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1048924	chr10:22177164-22296409	Enhancers Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv831808	chr10:22187850-22357814	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22256800-22269000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr10:22257000-22270600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr10:22258800-22267200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr10:22259800-22266400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:22260600-22273800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr10:22261800-22269200	Weak transcription	Colon Smooth Muscle	Colon
7	chr10:22262000-22267200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr10:22262000-22270000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr10:22262000-22274800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:22262600-22267400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr10:22264000-22265200	Enhancers	Brain Substantia Nigra	brain
12	chr10:22264000-22265400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr10:22264000-22265400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr10:22264200-22264600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr10:22264200-22264600	Enhancers	Liver	Liver
16	chr10:22264200-22264600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr10:22264200-22264800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:22264200-22265000	Enhancers	Brain Hippocampus Middle	brain
19	chr10:22264200-22265200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:22264200-22265400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr10:22264200-22265400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr10:22264200-22265400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr10:22264200-22265600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr10:22264200-22266600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr10:22264400-22264600	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr10:22264400-22264600	Enhancers	Brain Angular Gyrus	brain
27	chr10:22264400-22264600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr10:22264400-22264600	Enhancers	Gastric	stomach
29	chr10:22264400-22264600	Enhancers	Left Ventricle	heart
30	chr10:22264400-22264600	Enhancers	Pancreas	Pancrea
31	chr10:22264400-22264600	Enhancers	K562	blood
32	chr10:22264400-22264800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr10:22264400-22264800	Enhancers	Fetal Lung	lung
34	chr10:22264400-22264800	Enhancers	Rectal Smooth Muscle	rectum
35	chr10:22264400-22265000	Enhancers	NHDF-Ad	bronchial
36	chr10:22264400-22265200	Enhancers	Brain Anterior Caudate	brain
37	chr10:22264400-22265200	Enhancers	Brain Cingulate Gyrus	brain
38	chr10:22264400-22265400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr10:22264400-22265600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr10:22264400-22266200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr10:22264400-22269400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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