Variant report

Variant	rs73882455
Chromosome Location	chr22:29468010-29468011
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr22:29467234-29468090	HepG2	liver:	n/a	chr22:29467687-29467697
2	JUND	chr22:29467882-29468079	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr22:29467188-29468888	PBDE	blood:	n/a	n/a
4	GATA1	chr22:29467561-29468374	PBDE	blood:	n/a	n/a
5	MAZ	chr22:29467498-29468056	GM12878	blood:	n/a	chr22:29467687-29467697
6	MAX	chr22:29467141-29468028	HepG2	liver:	n/a	chr22:29467148-29467158 chr22:29467687-29467697
7	E2F4	chr22:29467374-29468061	MCF10A-Er-Src	breast:	n/a	chr22:29467536-29467548 chr22:29467605-29467614 chr22:29467607-29467617 chr22:29467540-29467550

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29279568..29281765-chr22:29467462..29470387,2	K562	blood:

Variant related genes	Relation type
KREMEN1	TF binding region
ENSG00000183579	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs132273	0.86[ASN][1000 genomes]
rs16987043	1.00[ASN][1000 genomes]
rs16987073	1.00[ASN][1000 genomes]
rs16987081	1.00[ASN][1000 genomes]
rs16987099	1.00[ASN][1000 genomes]
rs16987136	0.86[ASN][1000 genomes]
rs16987139	0.86[ASN][1000 genomes]
rs16987147	0.86[ASN][1000 genomes]
rs4429563	1.00[ASN][1000 genomes]
rs4508707	0.87[ASN][1000 genomes]
rs6519774	1.00[ASN][1000 genomes]
rs71327332	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73882457	0.84[AFR][1000 genomes]
rs73882458	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8141696	1.00[ASN][1000 genomes]
rs8141812	1.00[ASN][1000 genomes]
rs8142699	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524259	chr22:29467221-29482221	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29463800-29468400	Weak transcription	Dnd41	blood
2	chr22:29465800-29468400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr22:29466600-29468200	Enhancers	Esophagus	oesophagus
4	chr22:29466800-29468600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr22:29467000-29468800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr22:29467000-29470400	Enhancers	Fetal Heart	heart
7	chr22:29467200-29468200	Active TSS	Fetal Intestine Large	intestine
8	chr22:29467200-29468400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
9	chr22:29467200-29468400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr22:29467200-29468400	Weak transcription	K562	blood
11	chr22:29467200-29468600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr22:29467200-29468600	Weak transcription	Gastric	stomach
13	chr22:29467200-29468600	Enhancers	Left Ventricle	heart
14	chr22:29467200-29468800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr22:29467200-29468800	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr22:29467200-29469000	Bivalent Enhancer	Fetal Brain Male	brain
17	chr22:29467200-29470200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr22:29467200-29470400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr22:29467200-29470400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr22:29467200-29470600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr22:29467200-29471200	Active TSS	Ovary	ovary
22	chr22:29467400-29468200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:29467400-29468200	Active TSS	Brain Angular Gyrus	brain
24	chr22:29467400-29468200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr22:29467400-29468400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr22:29467400-29468800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
27	chr22:29467400-29468800	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr22:29467400-29468800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
29	chr22:29467400-29468800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
30	chr22:29467400-29469600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr22:29467400-29469600	Active TSS	Right Ventricle	heart
32	chr22:29467400-29470000	Active TSS	Aorta	Aorta
33	chr22:29467400-29470200	Active TSS	Psoas Muscle	Psoas
34	chr22:29467400-29470200	Active TSS	Right Atrium	heart
35	chr22:29467600-29468200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
36	chr22:29467600-29468800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr22:29467600-29468800	Flanking Active TSS	Liver	Liver
38	chr22:29467600-29468800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr22:29467600-29468800	Flanking Bivalent TSS/Enh	Thymus	Thymus
40	chr22:29467600-29470400	Active TSS	HSMM	muscle
41	chr22:29467800-29468200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr22:29467800-29468200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
43	chr22:29467800-29468200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
44	chr22:29467800-29468200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
45	chr22:29467800-29468200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
46	chr22:29467800-29468200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
47	chr22:29467800-29468200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr22:29467800-29468200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
49	chr22:29467800-29468200	Flanking Active TSS	HMEC	breast
50	chr22:29467800-29468200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel

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