Variant report

Variant	rs2294969
Chromosome Location	chr22:28492151-28492152
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28487019..28489734-chr22:28491482..28493153,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11912165	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2064360	1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28720063	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56695231	0.89[ASN][1000 genomes]
rs5752658	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs5752679	1.00[CHB][hapmap]
rs5752687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs5752690	0.89[ASN][1000 genomes]
rs5752693	0.93[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs5762408	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs5762446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs5762449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs5762474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5762478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5762492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762495	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5762498	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5762504	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5762506	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5762508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs5762532	0.82[YRI][hapmap]
rs5762540	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs59105820	0.81[AFR][1000 genomes]
rs9608667	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28466600-28503600	Weak transcription	Hela-S3	cervix
2	chr22:28472000-28494800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr22:28472000-28499000	Weak transcription	NHDF-Ad	bronchial
4	chr22:28472200-28498600	Weak transcription	Colon Smooth Muscle	Colon
5	chr22:28472400-28494200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr22:28472800-28495400	Weak transcription	Pancreas	Pancrea
7	chr22:28472800-28501000	Weak transcription	Gastric	stomach
8	chr22:28480200-28493600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:28480400-28494000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:28483600-28500000	Weak transcription	Spleen	Spleen
11	chr22:28485600-28494200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr22:28485600-28494600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr22:28485800-28501400	Strong transcription	Dnd41	blood
14	chr22:28485800-28508600	Weak transcription	Brain Substantia Nigra	brain
15	chr22:28486000-28492200	Weak transcription	Lung	lung
16	chr22:28486000-28507200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr22:28486200-28504400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:28486200-28504800	Weak transcription	Osteobl	bone
19	chr22:28486400-28494000	Weak transcription	Right Ventricle	heart
20	chr22:28486400-28508600	Weak transcription	Psoas Muscle	Psoas
21	chr22:28486600-28498400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr22:28486600-28499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr22:28486600-28499400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr22:28486800-28494800	Weak transcription	Brain Angular Gyrus	brain
25	chr22:28486800-28498600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:28487000-28496800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr22:28487400-28495200	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr22:28487400-28497000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr22:28487400-28501200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr22:28487600-28504400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr22:28487600-28517200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr22:28487800-28505000	Weak transcription	Colonic Mucosa	Colon
33	chr22:28488200-28499400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr22:28488800-28493600	Weak transcription	Brain Anterior Caudate	brain
35	chr22:28488800-28493600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr22:28488800-28501000	Weak transcription	Brain Hippocampus Middle	brain
37	chr22:28489000-28499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr22:28489000-28508200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr22:28489600-28500800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr22:28489800-28492600	Enhancers	Fetal Brain Male	brain
41	chr22:28489800-28508400	Weak transcription	Small Intestine	intestine
42	chr22:28490000-28492600	Strong transcription	Liver	Liver
43	chr22:28490000-28492800	Enhancers	Brain Germinal Matrix	brain
44	chr22:28490000-28494000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr22:28490200-28492200	Strong transcription	Placenta	Placenta
46	chr22:28490200-28496600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr22:28490400-28492200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr22:28490400-28492400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr22:28490400-28494000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr22:28490400-28494200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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