Variant report

Variant	rs5752783
Chromosome Location	chr22:29140823-29140824
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29126583..29142031-chr22:29203252..29220632,67	MCF-7	breast:
2	chr22:29135038..29141691-chr22:29167545..29172967,16	MCF-7	breast:
3	chr22:29140753..29143117-chr22:29145529..29147123,2	K562	blood:
4	chr22:29139785..29141422-chr22:29182514..29184632,2	MCF-7	breast:
5	chr22:29133437..29141650-chr22:29203240..29216422,34	MCF-7	breast:
6	chr22:29134224..29141746-chr22:29191206..29200044,27	MCF-7	breast:
7	chr22:29127658..29141630-chr22:29187451..29201381,67	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159873	Chromatin interaction
ENSG00000226471	Chromatin interaction
ENSG00000272858	Chromatin interaction
ENSG00000100219	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs5752791	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs5762768	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5762776	0.81[AMR][1000 genomes]
rs5762777	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs5997397	0.86[ASN][1000 genomes]
rs6005862	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6005863	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6005864	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9608698	0.86[ASN][1000 genomes]
rs9613668	0.91[AFR][1000 genomes];0.88[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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29139000-29141600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr22:29139000-29143200	Weak transcription	Small Intestine	intestine
3	chr22:29139000-29143400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:29139200-29141800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr22:29139200-29144400	Weak transcription	Right Ventricle	heart
6	chr22:29139200-29146000	Weak transcription	Fetal Brain Male	brain
7	chr22:29139200-29153800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:29139400-29141800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr22:29139400-29142800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr22:29139400-29143400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr22:29139400-29144200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr22:29139400-29145000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr22:29139400-29145600	Strong transcription	HSMM	muscle
14	chr22:29139400-29149400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr22:29139400-29156400	Weak transcription	Stomach Mucosa	stomach
16	chr22:29139600-29141200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:29139600-29141400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr22:29139600-29141600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr22:29139600-29144000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr22:29139600-29144600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr22:29139600-29144600	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr22:29139600-29145800	Strong transcription	Fetal Thymus	thymus
23	chr22:29139600-29146400	Weak transcription	NHLF	lung
24	chr22:29139600-29146800	Strong transcription	Primary T cells from cord blood	blood
25	chr22:29139600-29148200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr22:29139600-29148600	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr22:29139600-29149600	Weak transcription	K562	blood
28	chr22:29139800-29141000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr22:29139800-29141000	Strong transcription	Brain Angular Gyrus	brain
30	chr22:29139800-29141000	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr22:29139800-29141000	Strong transcription	HUVEC	blood vessel
32	chr22:29139800-29141000	Strong transcription	NHDF-Ad	bronchial
33	chr22:29139800-29143000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr22:29139800-29143400	Weak transcription	NHEK	skin
35	chr22:29139800-29143600	Strong transcription	Thymus	Thymus
36	chr22:29139800-29143800	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr22:29139800-29144200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr22:29139800-29144200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr22:29139800-29144200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr22:29139800-29144400	Strong transcription	Brain Hippocampus Middle	brain
41	chr22:29139800-29144400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr22:29139800-29144600	Strong transcription	Primary B cells from peripheral blood	blood
43	chr22:29139800-29144600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr22:29139800-29144600	Strong transcription	Dnd41	blood
45	chr22:29139800-29144800	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr22:29139800-29145200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr22:29139800-29145200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr22:29139800-29145400	Strong transcription	Left Ventricle	heart
49	chr22:29139800-29145800	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr22:29139800-29145800	Strong transcription	Stomach Smooth Muscle	stomach

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