Variant report

Variant	rs5752687
Chromosome Location	chr22:28412368-28412369
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	chr22:28412014..28413767-chr22:28838312..28839974,2	K562	blood:

Variant related genes	Relation type
ENSG00000100154	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11912165	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2064360	1.00[CHB][hapmap]
rs2235574	0.80[EUR][1000 genomes]
rs2294969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs28720063	0.82[ASN][1000 genomes]
rs56695231	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5752658	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs5752679	1.00[CHB][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5752690	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs5762408	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs5762446	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs5762478	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs5762492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs5762495	0.80[ASN][1000 genomes]
rs5762498	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs5762506	0.82[ASN][1000 genomes]
rs5762508	1.00[CEU][hapmap];1.00[CHB][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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28381800-28412400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr22:28386200-28416000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:28389200-28413000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:28390000-28414600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr22:28390400-28416200	Weak transcription	Colonic Mucosa	Colon
6	chr22:28394800-28414000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr22:28395000-28416400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr22:28395600-28413000	Weak transcription	Pancreas	Pancrea
9	chr22:28396000-28422400	Weak transcription	Primary T cells from cord blood	blood
10	chr22:28397200-28423000	Weak transcription	HepG2	liver
11	chr22:28399400-28425800	Weak transcription	Liver	Liver
12	chr22:28405200-28414000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr22:28405400-28412400	Weak transcription	Brain Hippocampus Middle	brain
14	chr22:28405400-28415000	Weak transcription	HSMM	muscle
15	chr22:28405400-28416200	Weak transcription	NHDF-Ad	bronchial
16	chr22:28405400-28416200	Weak transcription	NHLF	lung
17	chr22:28405400-28416400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr22:28405400-28416400	Weak transcription	Fetal Kidney	kidney
19	chr22:28405600-28412400	Weak transcription	Brain Anterior Caudate	brain
20	chr22:28405600-28414800	Weak transcription	HSMMtube	muscle
21	chr22:28405800-28414000	Weak transcription	Psoas Muscle	Psoas
22	chr22:28405800-28416000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr22:28405800-28416200	Weak transcription	Left Ventricle	heart
24	chr22:28408000-28412600	Strong transcription	Stomach Smooth Muscle	stomach
25	chr22:28408800-28416200	Genic enhancers	Fetal Muscle Trunk	muscle
26	chr22:28409000-28428000	Genic enhancers	Fetal Muscle Leg	muscle
27	chr22:28409200-28412600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:28409200-28416200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr22:28409400-28412400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr22:28409400-28415800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr22:28409400-28430400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr22:28409600-28416000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr22:28409800-28412800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr22:28410000-28413200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:28410000-28414400	Enhancers	Fetal Brain Male	brain
36	chr22:28410000-28415000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr22:28410000-28416000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr22:28410200-28415200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr22:28410200-28415800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr22:28410200-28416000	Weak transcription	Brain Substantia Nigra	brain
41	chr22:28410200-28423000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr22:28410200-28423400	Weak transcription	Gastric	stomach
43	chr22:28410400-28412400	Weak transcription	Lung	lung
44	chr22:28410400-28413000	Enhancers	Brain Germinal Matrix	brain
45	chr22:28410400-28413400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr22:28410400-28415000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr22:28410400-28415800	Weak transcription	Brain Angular Gyrus	brain
48	chr22:28410400-28416200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr22:28410400-28424200	Weak transcription	Aorta	Aorta
50	chr22:28410800-28412800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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