Variant report

Variant	rs5997391
Chromosome Location	chr22:29145539-29145540
allele	C/T
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:
4	chr22:29140753..29143117-chr22:29145529..29147123,2	K562	blood:
5	chr22:29145305..29148162-chr22:29185055..29187826,2	K562	blood:
6	chr22:29145130..29148116-chr22:29224104..29225824,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100209	Chromatin interaction
ENSG00000183765	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11090546	0.85[ASN][1000 genomes]
rs12165893	0.86[MEX][hapmap]
rs12168849	0.83[ASN][1000 genomes]
rs1474961	0.86[MEX][hapmap]
rs2235432	0.81[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs2294431	0.87[ASN][1000 genomes]
rs5997393	0.98[ASN][1000 genomes]
rs5997394	0.98[ASN][1000 genomes]
rs6005856	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6005857	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005861	0.90[JPT][hapmap];0.86[MEX][hapmap]
rs6005866	0.87[ASN][1000 genomes]
rs6005868	0.81[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs6005877	0.87[ASN][1000 genomes]
rs7289534	0.86[MEX][hapmap]
rs7293232	0.86[MEX][hapmap]
rs9620811	0.86[MEX][hapmap]
rs9625520	0.86[MEX][hapmap]
rs9625524	0.86[MEX][hapmap]
rs9625551	0.90[JPT][hapmap]
rs9625562	0.88[ASN][1000 genomes]
rs9625573	0.86[ASN][1000 genomes]

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:121 , 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	chr22:29139400-29145600	Strong transcription	HSMM	muscle
4	chr22:29139400-29149400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr22:29139400-29156400	Weak transcription	Stomach Mucosa	stomach
6	chr22:29139600-29145800	Strong transcription	Fetal Thymus	thymus
7	chr22:29139600-29146400	Weak transcription	NHLF	lung
8	chr22:29139600-29146800	Strong transcription	Primary T cells from cord blood	blood
9	chr22:29139600-29148200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr22:29139600-29148600	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr22:29139600-29149600	Weak transcription	K562	blood
12	chr22:29139800-29145800	Strong transcription	Brain Inferior Temporal Lobe	brain
13	chr22:29139800-29145800	Strong transcription	Stomach Smooth Muscle	stomach
14	chr22:29139800-29146000	Strong transcription	Brain Anterior Caudate	brain
15	chr22:29139800-29146000	Strong transcription	Fetal Lung	lung
16	chr22:29139800-29146200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr22:29139800-29146600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr22:29139800-29146800	Strong transcription	Fetal Intestine Large	intestine
19	chr22:29139800-29147400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr22:29139800-29147400	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr22:29139800-29147600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr22:29139800-29147800	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr22:29139800-29147800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr22:29139800-29147800	Strong transcription	Lung	lung
25	chr22:29139800-29148200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr22:29139800-29148200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr22:29139800-29148400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr22:29139800-29149000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr22:29139800-29149000	Strong transcription	Fetal Muscle Leg	muscle
30	chr22:29139800-29149200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr22:29139800-29149400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:29139800-29150600	Strong transcription	Fetal Stomach	stomach
33	chr22:29139800-29156000	Weak transcription	HMEC	breast
34	chr22:29140000-29145600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr22:29140000-29145800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr22:29140000-29145800	Strong transcription	Ovary	ovary
37	chr22:29140000-29145800	Strong transcription	Osteobl	bone
38	chr22:29140000-29146000	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr22:29140000-29146000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr22:29140000-29146000	Strong transcription	Adipose Nuclei	Adipose
41	chr22:29140000-29146400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr22:29140000-29147200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
43	chr22:29140000-29147600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr22:29140000-29148200	Strong transcription	Placenta	Placenta
45	chr22:29140000-29148600	Weak transcription	Fetal Heart	heart
46	chr22:29140000-29149200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr22:29140000-29150000	Strong transcription	Fetal Intestine Small	intestine
48	chr22:29140200-29147000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr22:29140400-29145800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr22:29140600-29145600	Strong transcription	HSMMtube	muscle

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