Variant report

Variant	rs135640
Chromosome Location	chr22:28537992-28537993
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:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs134170	0.89[LWK][hapmap]
rs134174	0.95[CEU][hapmap];0.95[CHB][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs134185	0.93[LWK][hapmap];0.91[MKK][hapmap]
rs134187	0.86[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[LWK][hapmap];0.87[MKK][hapmap];0.89[TSI][hapmap];0.85[YRI][hapmap];0.84[ASN][1000 genomes]
rs1969681	0.92[ASN][1000 genomes]
rs5762481	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.85[MKK][hapmap];0.89[ASN][1000 genomes]
rs5762549	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs5762552	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs6005693	0.91[CEU][hapmap];0.86[JPT][hapmap];0.85[TSI][hapmap]
rs742547	0.90[CEU][hapmap];0.86[JPT][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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28513200-28538000	Weak transcription	Dnd41	blood
2	chr22:28533600-28542800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr22:28533800-28559000	Weak transcription	Aorta	Aorta
4	chr22:28534200-28545200	Enhancers	Fetal Lung	lung
5	chr22:28534400-28544000	Enhancers	Fetal Brain Male	brain
6	chr22:28534600-28538000	Enhancers	NHLF	lung
7	chr22:28534600-28541000	Enhancers	Fetal Stomach	stomach
8	chr22:28535000-28538000	Enhancers	HSMMtube	muscle
9	chr22:28535000-28538200	Enhancers	Adipose Nuclei	Adipose
10	chr22:28535400-28539400	Enhancers	HMEC	breast
11	chr22:28535400-28541200	Enhancers	Colon Smooth Muscle	Colon
12	chr22:28535600-28538000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr22:28535600-28538000	Enhancers	HSMM	muscle
14	chr22:28535600-28539200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr22:28535600-28540400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr22:28535800-28539000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:28535800-28539000	Enhancers	NHEK	skin
18	chr22:28535800-28540200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr22:28535800-28540400	Enhancers	Fetal Heart	heart
20	chr22:28535800-28540800	Enhancers	Rectal Smooth Muscle	rectum
21	chr22:28536000-28542200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr22:28536000-28544400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr22:28536200-28538000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr22:28536200-28538200	Weak transcription	Brain Anterior Caudate	brain
25	chr22:28536200-28538400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr22:28536200-28542400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr22:28536200-28546600	Weak transcription	Left Ventricle	heart
28	chr22:28536200-28549600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr22:28536400-28538000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr22:28536400-28538400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr22:28536400-28539000	Weak transcription	Right Atrium	heart
32	chr22:28536400-28542200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr22:28536600-28538800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr22:28536800-28543800	Enhancers	Fetal Brain Female	brain
35	chr22:28537000-28538200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr22:28537000-28538400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr22:28537000-28539800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:28537200-28538000	Enhancers	Brain Germinal Matrix	brain
39	chr22:28537200-28538600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr22:28537200-28541000	Enhancers	Fetal Kidney	kidney
41	chr22:28537200-28558800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr22:28537400-28538200	Weak transcription	Fetal Muscle Leg	muscle
43	chr22:28537400-28538400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr22:28537400-28538400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr22:28537400-28539000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr22:28537400-28539400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr22:28537400-28542400	Weak transcription	Right Ventricle	heart
48	chr22:28537600-28538000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr22:28537600-28538000	Weak transcription	Ovary	ovary
50	chr22:28537600-28538400	Weak transcription	Brain Hippocampus Middle	brain

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