Variant report

Variant	rs9625554
Chromosome Location	chr22:29144938-29144939
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29137433..29139398-chr22:29143624..29147097,3	K562	blood:
2	chr22:29136760..29140497-chr22:29144206..29149800,9	MCF-7	breast:
3	chr22:29144367..29147213-chr22:29158314..29160831,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183765	Chromatin interaction
ENSG00000100209	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10222265	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10427858	0.81[AFR][1000 genomes]
rs11913747	1.00[AMR][1000 genomes]
rs12165475	0.83[YRI][hapmap]
rs12165715	1.00[CHB][hapmap]
rs12165893	1.00[CHB][hapmap]
rs12166245	1.00[CHB][hapmap]
rs12166716	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12167378	0.83[YRI][hapmap]
rs12168765	1.00[CHB][hapmap]
rs12169262	1.00[CHB][hapmap]
rs12169460	1.00[CHB][hapmap]
rs13057011	1.00[CHB][hapmap]
rs16986649	1.00[AMR][1000 genomes]
rs17882700	1.00[AMR][1000 genomes]
rs2206061	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs59060951	1.00[ASN][1000 genomes]
rs5997389	0.82[AFR][1000 genomes]
rs5997390	0.82[AFR][1000 genomes]
rs5997401	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs59974795	1.00[ASN][1000 genomes]
rs6005822	1.00[AMR][1000 genomes]
rs6005824	1.00[AMR][1000 genomes]
rs6005856	0.82[AFR][1000 genomes]
rs6005861	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs6005870	0.86[AFR][1000 genomes]
rs6005898	0.86[AFR][1000 genomes]
rs60116790	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61339566	1.00[AMR][1000 genomes]
rs7286816	1.00[ASN][1000 genomes]
rs7289534	1.00[CHB][hapmap]
rs7293232	1.00[CHB][hapmap]
rs73388803	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73388808	1.00[ASN][1000 genomes]
rs9620808	1.00[CHB][hapmap]
rs9620810	1.00[CHB][hapmap]
rs9620811	1.00[CHB][hapmap]
rs9620826	1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9620828	1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9620833	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9620839	1.00[YRI][hapmap]
rs9625512	1.00[CHB][hapmap]
rs9625513	1.00[CHB][hapmap]
rs9625514	1.00[CHB][hapmap]
rs9625520	1.00[CHB][hapmap]
rs9625521	1.00[CHB][hapmap]
rs9625523	1.00[CHB][hapmap]
rs9625524	1.00[CHB][hapmap]
rs9625544	0.82[YRI][hapmap]
rs9625548	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9625565	0.86[AFR][1000 genomes]
rs9625568	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9625572	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9625580	0.86[AFR][1000 genomes]
rs9625586	1.00[ASN][1000 genomes]
rs9625602	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9625603	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9625645	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv9895	chr22:29029961-29184277	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29139200-29146000	Weak transcription	Fetal Brain Male	brain
2	chr22:29139200-29153800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:29139400-29145000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr22:29139400-29145600	Strong transcription	HSMM	muscle
5	chr22:29139400-29149400	Strong transcription	Fetal Muscle Trunk	muscle
6	chr22:29139400-29156400	Weak transcription	Stomach Mucosa	stomach
7	chr22:29139600-29145800	Strong transcription	Fetal Thymus	thymus
8	chr22:29139600-29146400	Weak transcription	NHLF	lung
9	chr22:29139600-29146800	Strong transcription	Primary T cells from cord blood	blood
10	chr22:29139600-29148200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr22:29139600-29148600	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr22:29139600-29149600	Weak transcription	K562	blood
13	chr22:29139800-29145200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr22:29139800-29145200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr22:29139800-29145400	Strong transcription	Left Ventricle	heart
16	chr22:29139800-29145800	Strong transcription	Brain Inferior Temporal Lobe	brain
17	chr22:29139800-29145800	Strong transcription	Stomach Smooth Muscle	stomach
18	chr22:29139800-29146000	Strong transcription	Brain Anterior Caudate	brain
19	chr22:29139800-29146000	Strong transcription	Fetal Lung	lung
20	chr22:29139800-29146200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr22:29139800-29146600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr22:29139800-29146800	Strong transcription	Fetal Intestine Large	intestine
23	chr22:29139800-29147400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr22:29139800-29147400	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr22:29139800-29147600	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr22:29139800-29147800	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr22:29139800-29147800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr22:29139800-29147800	Strong transcription	Lung	lung
29	chr22:29139800-29148200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr22:29139800-29148200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr22:29139800-29148400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr22:29139800-29149000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr22:29139800-29149000	Strong transcription	Fetal Muscle Leg	muscle
34	chr22:29139800-29149200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr22:29139800-29149400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:29139800-29150600	Strong transcription	Fetal Stomach	stomach
37	chr22:29139800-29156000	Weak transcription	HMEC	breast
38	chr22:29140000-29145000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr22:29140000-29145600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr22:29140000-29145800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr22:29140000-29145800	Strong transcription	Ovary	ovary
42	chr22:29140000-29145800	Strong transcription	Osteobl	bone
43	chr22:29140000-29146000	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr22:29140000-29146000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr22:29140000-29146000	Strong transcription	Adipose Nuclei	Adipose
46	chr22:29140000-29146400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr22:29140000-29147200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
48	chr22:29140000-29147600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr22:29140000-29148200	Strong transcription	Placenta	Placenta
50	chr22:29140000-29148600	Weak transcription	Fetal Heart	heart

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