Variant report

Variant	rs2092498
Chromosome Location	chr22:28539837-28539838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28536612..28538610-chr22:28539278..28541623,2	K562	blood:
2	chr22:28539281..28541367-chr22:28542040..28544765,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10483144	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs16985901	0.90[AFR][1000 genomes]
rs16985904	0.82[AFR][1000 genomes]
rs16985919	0.96[AFR][1000 genomes]
rs16985921	0.96[AFR][1000 genomes]
rs16985986	0.89[AFR][1000 genomes]
rs16986023	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs16986030	1.00[AFR][1000 genomes]
rs16986041	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs16986116	0.93[AFR][1000 genomes]
rs16986128	0.93[AFR][1000 genomes]
rs16986168	0.87[AFR][1000 genomes]
rs16986172	0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs16986181	0.87[AFR][1000 genomes]
rs16986193	0.93[AFR][1000 genomes]
rs16986219	0.93[AFR][1000 genomes]
rs16986231	0.93[AFR][1000 genomes]
rs16986238	0.87[AFR][1000 genomes]
rs16986240	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs16986246	0.93[AFR][1000 genomes]
rs16986249	0.93[AFR][1000 genomes]
rs16986259	0.93[AFR][1000 genomes]
rs16986349	0.93[AFR][1000 genomes]
rs2103601	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs57133747	0.84[AFR][1000 genomes]
rs57301669	0.86[AFR][1000 genomes]
rs58534561	0.82[AFR][1000 genomes]
rs58713460	0.93[AFR][1000 genomes]
rs60811750	0.93[AFR][1000 genomes]
rs61317772	0.93[AFR][1000 genomes]
rs61739502	0.82[AFR][1000 genomes]
rs9625433	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28533600-28542800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr22:28533800-28559000	Weak transcription	Aorta	Aorta
3	chr22:28534200-28545200	Enhancers	Fetal Lung	lung
4	chr22:28534400-28544000	Enhancers	Fetal Brain Male	brain
5	chr22:28534600-28541000	Enhancers	Fetal Stomach	stomach
6	chr22:28535400-28541200	Enhancers	Colon Smooth Muscle	Colon
7	chr22:28535600-28540400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr22:28535800-28540200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr22:28535800-28540400	Enhancers	Fetal Heart	heart
10	chr22:28535800-28540800	Enhancers	Rectal Smooth Muscle	rectum
11	chr22:28536000-28542200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr22:28536000-28544400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr22:28536200-28542400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr22:28536200-28546600	Weak transcription	Left Ventricle	heart
15	chr22:28536200-28549600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr22:28536400-28542200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr22:28536800-28543800	Enhancers	Fetal Brain Female	brain
18	chr22:28537200-28541000	Enhancers	Fetal Kidney	kidney
19	chr22:28537200-28558800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr22:28537400-28542400	Weak transcription	Right Ventricle	heart
21	chr22:28538000-28542200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr22:28538200-28540200	Enhancers	Brain Anterior Caudate	brain
23	chr22:28538400-28540200	Enhancers	HSMM	muscle
24	chr22:28538400-28540600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr22:28538400-28540800	Weak transcription	Lung	lung
26	chr22:28538400-28540800	Enhancers	NHLF	lung
27	chr22:28538400-28543600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr22:28538400-28544800	Weak transcription	Dnd41	blood
29	chr22:28538600-28540600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr22:28538600-28540800	Enhancers	Adipose Nuclei	Adipose
31	chr22:28538800-28540000	Enhancers	Osteobl	bone
32	chr22:28538800-28540200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr22:28538800-28541000	Enhancers	Fetal Muscle Leg	muscle
34	chr22:28538800-28549800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr22:28539000-28540400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr22:28539000-28540800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr22:28539000-28541800	Weak transcription	Brain Substantia Nigra	brain
38	chr22:28539200-28540000	Weak transcription	Right Atrium	heart
39	chr22:28539200-28540000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr22:28539200-28540200	Weak transcription	Psoas Muscle	Psoas
41	chr22:28539200-28540400	Enhancers	NHDF-Ad	bronchial
42	chr22:28539200-28540800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr22:28539200-28540800	Enhancers	HSMMtube	muscle
44	chr22:28539200-28541000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr22:28539200-28541800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr22:28539200-28542400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr22:28539200-28547000	Weak transcription	Fetal Intestine Small	intestine
48	chr22:28539200-28558400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr22:28539400-28540200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr22:28539400-28542000	Weak transcription	Brain Cingulate Gyrus	brain

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