Variant report

Variant	rs73394881
Chromosome Location	chr22:30267851-30267852
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	chr22:30267624..30270362-chr22:30273098..30276358,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs2051858	0.89[AFR][1000 genomes]
rs2051859	0.89[AFR][1000 genomes]
rs2107672	0.96[AFR][1000 genomes]
rs2107673	0.89[AFR][1000 genomes]
rs2158535	0.89[AFR][1000 genomes]
rs56822704	0.87[AFR][1000 genomes]
rs57349783	0.89[AFR][1000 genomes]
rs58564057	0.89[AFR][1000 genomes]
rs6006286	0.85[AFR][1000 genomes]
rs60093195	0.89[AFR][1000 genomes]
rs60098050	0.96[AFR][1000 genomes]
rs60573683	1.00[AFR][1000 genomes]
rs60751132	0.86[AFR][1000 genomes]
rs7291683	0.89[AFR][1000 genomes]
rs73394864	0.80[AFR][1000 genomes]
rs73394865	0.83[AFR][1000 genomes]
rs73394884	1.00[AFR][1000 genomes]
rs73394885	1.00[AFR][1000 genomes]
rs73394887	0.90[AFR][1000 genomes]
rs73394892	0.94[AFR][1000 genomes]
rs73394897	0.96[AFR][1000 genomes]
rs73396810	0.96[AFR][1000 genomes]
rs73396811	0.96[AFR][1000 genomes]
rs73396818	0.89[AFR][1000 genomes]
rs73396822	0.89[AFR][1000 genomes]
rs73396823	0.89[AFR][1000 genomes]
rs73396826	0.89[AFR][1000 genomes]
rs73396827	0.89[AFR][1000 genomes]
rs73396828	0.89[AFR][1000 genomes]
rs73396830	0.89[AFR][1000 genomes]
rs73396831	0.88[AFR][1000 genomes]
rs73396841	0.89[AFR][1000 genomes]
rs73396843	0.96[AFR][1000 genomes]
rs73396848	0.87[AFR][1000 genomes]
rs73396856	0.96[AFR][1000 genomes]
rs73396863	0.89[AFR][1000 genomes]
rs73396872	0.87[AFR][1000 genomes]
rs73396885	0.96[AFR][1000 genomes]
rs73396896	0.96[AFR][1000 genomes]
rs73396902	0.93[AFR][1000 genomes]
rs73398629	0.89[AFR][1000 genomes]
rs73398630	0.87[AFR][1000 genomes]
rs73398647	0.83[AFR][1000 genomes]
rs73398654	0.92[AFR][1000 genomes]
rs73398659	0.92[AFR][1000 genomes]
rs73398662	0.92[AFR][1000 genomes]
rs73398664	0.92[AFR][1000 genomes]
rs73398683	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv1851082	chr22:30253256-30294744	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30265800-30268800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr22:30265800-30268800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr22:30265800-30269200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr22:30265800-30270200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr22:30266600-30268000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr22:30266600-30268600	Enhancers	Primary T cells from cord blood	blood
7	chr22:30266800-30268000	Enhancers	NHEK	skin
8	chr22:30266800-30268600	Enhancers	Fetal Thymus	thymus
9	chr22:30266800-30268800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr22:30266800-30269400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr22:30266800-30270000	Enhancers	Psoas Muscle	Psoas
12	chr22:30267000-30268800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr22:30267000-30269000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr22:30267200-30268000	Enhancers	Fetal Brain Male	brain
15	chr22:30267200-30268000	Weak transcription	Pancreas	Pancrea
16	chr22:30267200-30268200	Weak transcription	Spleen	Spleen
17	chr22:30267200-30268400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr22:30267200-30268400	Enhancers	Fetal Muscle Leg	muscle
19	chr22:30267200-30269000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr22:30267400-30268200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr22:30267400-30268400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr22:30267400-30268400	Enhancers	Fetal Kidney	kidney
23	chr22:30267400-30268600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr22:30267400-30268800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr22:30267400-30268800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr22:30267400-30268800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr22:30267400-30268800	Enhancers	GM12878-XiMat	blood
28	chr22:30267600-30268200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:30267600-30268200	Enhancers	Fetal Intestine Large	intestine
30	chr22:30267600-30268400	Enhancers	Fetal Lung	lung
31	chr22:30267600-30268400	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr22:30267600-30268600	Enhancers	Brain Hippocampus Middle	brain
33	chr22:30267600-30268600	Flanking Bivalent TSS/Enh	HepG2	liver
34	chr22:30267600-30268800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr22:30267600-30268800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr22:30267600-30268800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr22:30267600-30269000	Enhancers	Adipose Nuclei	Adipose
38	chr22:30267600-30269200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr22:30267600-30269400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr22:30267600-30269400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr22:30267600-30269600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr22:30267600-30270200	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr22:30267800-30268200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr22:30267800-30268200	Enhancers	Fetal Intestine Small	intestine
45	chr22:30267800-30268400	Enhancers	Ovary	ovary
46	chr22:30267800-30268600	Enhancers	Brain Substantia Nigra	brain
47	chr22:30267800-30268800	Enhancers	Duodenum Mucosa	Duodenum
48	chr22:30267800-30268800	Enhancers	Left Ventricle	heart
49	chr22:30267800-30268800	Enhancers	Right Atrium	heart
50	chr22:30267800-30269000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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