Variant report

Variant	rs9754503
Chromosome Location	chr22:30268425-30268426
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30208644..30211473-chr22:30268127..30270343,2	MCF-7	breast:
2	chr22:30267624..30270362-chr22:30273098..30276358,3	K562	blood:

Variant related genes	Relation type
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs58158427	1.00[AFR][1000 genomes]
rs6006287	1.00[AFR][1000 genomes]
rs7284772	1.00[AFR][1000 genomes]
rs7286610	1.00[AFR][1000 genomes]
rs7287472	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7287547	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7289121	1.00[AFR][1000 genomes]
rs7290334	1.00[AFR][1000 genomes]
rs7290601	1.00[AFR][1000 genomes]
rs7290936	1.00[AFR][1000 genomes]
rs7291270	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7291597	1.00[AFR][1000 genomes]
rs7291748	1.00[AFR][1000 genomes]
rs7291902	1.00[AFR][1000 genomes]
rs7292072	1.00[AFR][1000 genomes]
rs7293189	1.00[AFR][1000 genomes]
rs73162767	1.00[AFR][1000 genomes]
rs73396827	1.00[EUR][1000 genomes]
rs73398640	1.00[EUR][1000 genomes]
rs73400629	1.00[EUR][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:50 , 50 per page) page: 1

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	chr22:30266600-30268600	Enhancers	Primary T cells from cord blood	blood
6	chr22:30266800-30268600	Enhancers	Fetal Thymus	thymus
7	chr22:30266800-30268800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr22:30266800-30269400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr22:30266800-30270000	Enhancers	Psoas Muscle	Psoas
10	chr22:30267000-30268800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr22:30267000-30269000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr22:30267200-30269000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr22:30267400-30268600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr22:30267400-30268800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr22:30267400-30268800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr22:30267400-30268800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr22:30267400-30268800	Enhancers	GM12878-XiMat	blood
18	chr22:30267600-30268600	Enhancers	Brain Hippocampus Middle	brain
19	chr22:30267600-30268600	Flanking Bivalent TSS/Enh	HepG2	liver
20	chr22:30267600-30268800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr22:30267600-30268800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr22:30267600-30268800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr22:30267600-30269000	Enhancers	Adipose Nuclei	Adipose
24	chr22:30267600-30269200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr22:30267600-30269400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr22:30267600-30269400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr22:30267600-30269600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr22:30267600-30270200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr22:30267800-30268600	Enhancers	Brain Substantia Nigra	brain
30	chr22:30267800-30268800	Enhancers	Duodenum Mucosa	Duodenum
31	chr22:30267800-30268800	Enhancers	Left Ventricle	heart
32	chr22:30267800-30268800	Enhancers	Right Atrium	heart
33	chr22:30267800-30269000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr22:30267800-30269400	Enhancers	Primary hematopoietic stem cells	blood
35	chr22:30267800-30270000	Enhancers	Primary B cells from cord blood	blood
36	chr22:30268000-30268600	Enhancers	Brain Anterior Caudate	brain
37	chr22:30268000-30268800	Enhancers	H9 Cell Line	embryonic stem cell
38	chr22:30268000-30268800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr22:30268000-30269000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr22:30268000-30269200	Weak transcription	NHEK	skin
41	chr22:30268000-30269600	Enhancers	Pancreas	Pancrea
42	chr22:30268200-30268600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr22:30268200-30268600	Enhancers	Brain Angular Gyrus	brain
44	chr22:30268200-30268600	Enhancers	Colon Smooth Muscle	Colon
45	chr22:30268200-30268800	Enhancers	Right Ventricle	heart
46	chr22:30268200-30269000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr22:30268200-30269600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr22:30268200-30270200	Enhancers	Spleen	Spleen
49	chr22:30268400-30268800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr22:30268400-30269400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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