Variant report

Variant	rs34920087
Chromosome Location	chr22:29533572-29533573
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29500096..29501834-chr22:29533331..29535067,2	K562	blood:
2	chr22:29195860..29197885-chr22:29533166..29536024,2	K562	blood:

Variant related genes	Relation type
ENSG00000226471	Chromatin interaction
ENSG00000100219	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12157998	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167060	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13056416	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17444498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17451053	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17523074	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17523307	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2007772	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33958791	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34898858	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34946378	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35612970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36020709	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67157227	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs713527	0.92[ASN][1000 genomes]
rs713728	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs878725	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs933244	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv3328609	chr22:29533405-29533725	Genic enhancers Strong transcription Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
3	chr22:29493200-29536400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:29508200-29537200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:29515600-29533800	Weak transcription	Brain Germinal Matrix	brain
6	chr22:29517200-29546200	Strong transcription	Dnd41	blood
7	chr22:29518400-29535800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:29519400-29533800	Weak transcription	Fetal Brain Female	brain
9	chr22:29520600-29534200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr22:29522400-29541600	Weak transcription	HMEC	breast
11	chr22:29522600-29533800	Weak transcription	Adipose Nuclei	Adipose
12	chr22:29522600-29538000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:29523000-29534600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr22:29523400-29548200	Weak transcription	Stomach Mucosa	stomach
15	chr22:29524400-29533800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr22:29525400-29536000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr22:29525800-29535800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr22:29525800-29544400	Weak transcription	NHLF	lung
19	chr22:29526000-29535600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr22:29526000-29536200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr22:29526200-29542800	Weak transcription	Fetal Heart	heart
22	chr22:29526200-29547000	Weak transcription	K562	blood
23	chr22:29526400-29535800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr22:29527600-29548000	Strong transcription	Fetal Intestine Small	intestine
25	chr22:29528000-29539000	Strong transcription	Ovary	ovary
26	chr22:29528200-29535600	Strong transcription	Fetal Lung	lung
27	chr22:29528600-29544400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr22:29529400-29547000	Strong transcription	Thymus	Thymus
29	chr22:29529800-29535800	Strong transcription	Fetal Thymus	thymus
30	chr22:29530000-29535600	Weak transcription	HepG2	liver
31	chr22:29530000-29541400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr22:29530400-29535800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr22:29530800-29546800	Genic enhancers	Fetal Muscle Leg	muscle
34	chr22:29531000-29536200	Weak transcription	Fetal Kidney	kidney
35	chr22:29531000-29540800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr22:29531000-29541000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr22:29531200-29539000	Strong transcription	Esophagus	oesophagus
38	chr22:29531600-29534600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr22:29531600-29537000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr22:29531600-29542800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr22:29531600-29548400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr22:29531800-29537000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr22:29532000-29533800	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr22:29532000-29534200	Weak transcription	Brain Substantia Nigra	brain
45	chr22:29532600-29533600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr22:29532600-29533800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
47	chr22:29532600-29534800	Strong transcription	Aorta	Aorta
48	chr22:29532600-29536200	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr22:29532600-29536400	Strong transcription	Brain Angular Gyrus	brain
50	chr22:29532600-29538600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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