Variant report

Variant	rs4722108
Chromosome Location	chr7:22230393-22230394
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	chr7:22225325..22228215-chr7:22229043..22231060,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10250341	1.00[CHB][hapmap]
rs10250355	1.00[CHB][hapmap]
rs10255486	1.00[CHB][hapmap]
rs10282106	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10950895	1.00[CHB][hapmap];0.84[MKK][hapmap]
rs11763898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11766435	0.89[CEU][hapmap]
rs11766861	0.89[CEU][hapmap]
rs12530484	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533150	1.00[CHB][hapmap]
rs12700363	0.89[CEU][hapmap]
rs12700364	0.89[CEU][hapmap]
rs1345251	0.88[LWK][hapmap];0.92[MKK][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1419765	0.89[CEU][hapmap]
rs17146362	1.00[ASW][hapmap]
rs17773555	0.86[CEU][hapmap]
rs17774699	1.00[ASW][hapmap]
rs2079478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813383	0.86[TSI][hapmap]
rs4291165	1.00[CHB][hapmap]
rs4496855	1.00[CHB][hapmap]
rs4590334	1.00[CHB][hapmap]
rs4640962	1.00[CHB][hapmap]
rs4722110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5014150	1.00[CHB][hapmap];0.92[AFR][1000 genomes]
rs6461640	1.00[CHB][hapmap];0.84[MKK][hapmap]
rs6461641	1.00[CHB][hapmap]
rs6944433	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948973	1.00[CHB][hapmap]
rs6949461	1.00[CHB][hapmap]
rs6960229	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965394	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971344	1.00[CHB][hapmap]
rs6980127	1.00[CHB][hapmap]
rs73683318	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7796738	1.00[CHB][hapmap]
rs7803094	0.89[CEU][hapmap]
rs7809342	1.00[CHB][hapmap];0.84[MKK][hapmap]
rs7810806	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9886139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv606405	chr7:22202485-22235825	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22184600-22240600	Weak transcription	Colonic Mucosa	Colon
2	chr7:22190000-22232800	Weak transcription	Aorta	Aorta
3	chr7:22193800-22232000	Weak transcription	Adipose Nuclei	Adipose
4	chr7:22194400-22232400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:22207000-22232000	Weak transcription	Fetal Stomach	stomach
6	chr7:22214400-22247400	Weak transcription	HUVEC	blood vessel
7	chr7:22214600-22232000	Weak transcription	Small Intestine	intestine
8	chr7:22214600-22232400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:22214800-22232600	Weak transcription	NHEK	skin
10	chr7:22215400-22232000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:22218800-22232000	Weak transcription	Thymus	Thymus
12	chr7:22219600-22234600	Weak transcription	Primary T cells from cord blood	blood
13	chr7:22221800-22232400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:22221800-22233200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:22222200-22235200	Weak transcription	GM12878-XiMat	blood
16	chr7:22223200-22232400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:22223200-22242600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:22223800-22234200	Weak transcription	HMEC	breast
19	chr7:22224000-22232600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:22224800-22232400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:22225200-22231200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:22225200-22232000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:22225200-22233000	Strong transcription	Fetal Thymus	thymus
24	chr7:22225400-22230400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:22225400-22253600	Weak transcription	Stomach Mucosa	stomach
26	chr7:22225600-22231200	Weak transcription	Fetal Kidney	kidney
27	chr7:22225800-22232000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:22225800-22246800	Strong transcription	Dnd41	blood
29	chr7:22226600-22232600	Strong transcription	Fetal Intestine Large	intestine
30	chr7:22227000-22236800	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr7:22227200-22231200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:22227200-22233400	Strong transcription	Lung	lung
33	chr7:22227400-22245600	Strong transcription	HepG2	liver
34	chr7:22227600-22231000	Weak transcription	Esophagus	oesophagus
35	chr7:22227600-22232400	Weak transcription	Spleen	Spleen
36	chr7:22228000-22233800	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr7:22228600-22230600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr7:22228800-22230400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr7:22228800-22230400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr7:22228800-22232600	Weak transcription	Ovary	ovary
41	chr7:22228800-22233800	Active TSS	Brain Angular Gyrus	brain
42	chr7:22228800-22233800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:22229000-22231200	Strong transcription	Fetal Intestine Small	intestine
44	chr7:22229200-22230400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:22229200-22232200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:22229200-22232800	Weak transcription	Right Ventricle	heart
47	chr7:22229200-22233600	Active TSS	Brain Hippocampus Middle	brain
48	chr7:22229200-22233800	Active TSS	Brain Cingulate Gyrus	brain
49	chr7:22229200-22233800	Active TSS	Brain Substantia Nigra	brain
50	chr7:22229600-22231400	Strong transcription	Left Ventricle	heart

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