Variant report

Variant	rs12483995
Chromosome Location	chr22:19922543-19922544
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr22:19922430-19923398	K562	blood:	n/a	n/a
2	CBX3	chr22:19922500-19923007	K562	blood:	n/a	n/a
3	SETDB1	chr22:19922192-19923898	K562	blood:	n/a	n/a
4	CBX3	chr22:19922408-19923886	K562	blood:	n/a	n/a
5	SETDB1	chr22:19922517-19923242	U2OS	brain:	n/a	n/a
6	TRIM28	chr22:19922463-19923525	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:19918524..19922699-chr22:19924383..19930624,8	MCF-7	breast:
2	chr22:19921445..19923259-chr22:19928695..19932006,3	MCF-7	breast:

Variant related genes	Relation type
TXNRD2	TF binding region
ENSG00000093010	Chromatin interaction
ENSG00000184470	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10483103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs165879	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17210001	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs174673	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs174683	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs174684	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs174685	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs174686	0.89[AMR][1000 genomes]
rs174687	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs174689	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2871046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2871047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1792516	chr22:19578312-20314496	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription 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	195 gene(s)	inside rSNPs	diseases
2	nsv914279	chr22:19638044-19954458	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer 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	56 gene(s)	inside rSNPs	diseases
3	esv1818018	chr22:19674772-20313261	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	193 gene(s)	inside rSNPs	diseases
4	nsv828938	chr22:19678592-20311988	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	192 gene(s)	inside rSNPs	diseases
5	nsv828939	chr22:19683555-20311988	Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	192 gene(s)	inside rSNPs	diseases
6	nsv1064992	chr22:19691720-20246906	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
7	esv1826873	chr22:19726464-20313261	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
8	nsv588237	chr22:19749525-20306993	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
9	nsv482455	chr22:19758291-19932709	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv1065963	chr22:19779317-20027562	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
11	nsv544580	chr22:19779317-20027562	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
12	nsv834130	chr22:19825446-19928090	Weak transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv949462	chr22:19840196-20214783	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	163 gene(s)	inside rSNPs	diseases
14	nsv1065367	chr22:19856610-20127323	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
15	nsv469641	chr22:19879185-20055258	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
16	nsv482484	chr22:19879185-20055258	Weak transcription Active TSS Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
17	nsv834131	chr22:19879186-20055258	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
18	nsv834132	chr22:19887966-20069970	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
19	nsv588238	chr22:19898886-19937638	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv914306	chr22:19900075-19983014	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
21	nsv588239	chr22:19907099-20309393	Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:19871000-19927600	Weak transcription	Hela-S3	cervix
2	chr22:19897600-19923200	Weak transcription	NHDF-Ad	bronchial
3	chr22:19901400-19928200	Weak transcription	Small Intestine	intestine
4	chr22:19902000-19928000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr22:19902400-19928000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr22:19902600-19928000	Weak transcription	Fetal Brain Male	brain
7	chr22:19904000-19928200	Weak transcription	Fetal Lung	lung
8	chr22:19906000-19927800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr22:19906200-19927800	Weak transcription	Colon Smooth Muscle	Colon
10	chr22:19906200-19928000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr22:19906200-19928000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr22:19906200-19928200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr22:19906400-19922800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr22:19906400-19928000	Weak transcription	Colonic Mucosa	Colon
15	chr22:19906400-19928000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr22:19906400-19928000	Weak transcription	HSMMtube	muscle
17	chr22:19906400-19928000	Weak transcription	Osteobl	bone
18	chr22:19906400-19928200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr22:19906400-19928200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr22:19906400-19928200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr22:19906600-19922800	Weak transcription	Brain Germinal Matrix	brain
22	chr22:19906600-19923200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr22:19906600-19923200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr22:19906600-19923200	Weak transcription	HUVEC	blood vessel
25	chr22:19906600-19924600	Weak transcription	HepG2	liver
26	chr22:19906600-19927800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr22:19906600-19927800	Weak transcription	Brain Angular Gyrus	brain
28	chr22:19906600-19928000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr22:19906600-19928200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr22:19906600-19928200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr22:19906800-19928200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr22:19907200-19923200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr22:19907200-19923200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr22:19907200-19923200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr22:19907200-19928400	Weak transcription	Thymus	Thymus
36	chr22:19907400-19928000	Weak transcription	NHLF	lung
37	chr22:19907400-19928200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr22:19907600-19923000	Weak transcription	Fetal Brain Female	brain
39	chr22:19907600-19927200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr22:19907800-19922800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr22:19907800-19923200	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr22:19912200-19922600	Weak transcription	Liver	Liver
43	chr22:19912200-19923000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr22:19912400-19928000	Weak transcription	Primary B cells from cord blood	blood
45	chr22:19917600-19928000	Weak transcription	HSMM	muscle
46	chr22:19918200-19928200	Weak transcription	Ovary	ovary
47	chr22:19918400-19923200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr22:19918400-19923200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr22:19918400-19928200	Weak transcription	Primary T cells from cord blood	blood
50	chr22:19918600-19922800	Weak transcription	Fetal Intestine Small	intestine

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