Variant report

Variant	rs56274114
Chromosome Location	chr22:30097062-30097063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30091841..30093848-chr22:30094919..30097302,3	MCF-7	breast:
2	chr22:30086550..30091376-chr22:30091742..30099600,10	MCF-7	breast:
3	chr22:30096975..30100180-chr22:30101896..30105574,4	K562	blood:
4	chr22:30096098..30098972-chr22:30384609..30387065,2	MCF-7	breast:
5	chr22:30096968..30098760-chr22:30102459..30104662,3	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12053771	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55646014	0.81[ASN][1000 genomes]
rs5752949	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5752951	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5752952	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763373	0.81[ASN][1000 genomes]
rs5763382	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763419	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763425	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763430	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv529737	chr22:30060946-30109561	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv914963	chr22:30075052-30133579	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv914964	chr22:30081715-30150549	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv914965	chr22:30086144-30112226	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv914966	chr22:30088442-30138548	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1816879	chr22:30096309-30126906	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30075400-30097400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:30079600-30097400	Weak transcription	Hela-S3	cervix
3	chr22:30080200-30098800	Weak transcription	GM12878-XiMat	blood
4	chr22:30086600-30098000	Weak transcription	Colon Smooth Muscle	Colon
5	chr22:30087000-30098400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:30089600-30098200	Weak transcription	Right Atrium	heart
7	chr22:30090800-30097400	Weak transcription	Primary B cells from cord blood	blood
8	chr22:30091600-30097200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr22:30092000-30097400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:30092600-30098200	Weak transcription	Liver	Liver
11	chr22:30092800-30097200	Weak transcription	Placenta	Placenta
12	chr22:30092800-30097200	Weak transcription	Left Ventricle	heart
13	chr22:30093000-30099400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr22:30093800-30099200	Weak transcription	Aorta	Aorta
15	chr22:30094400-30097400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr22:30094400-30098600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr22:30094400-30098600	Weak transcription	Ovary	ovary
18	chr22:30094600-30098200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr22:30094800-30097200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr22:30094800-30097800	Weak transcription	Brain Substantia Nigra	brain
21	chr22:30095000-30098600	Weak transcription	Spleen	Spleen
22	chr22:30095600-30098200	Enhancers	NH-A	brain
23	chr22:30095800-30097600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:30095800-30097600	Enhancers	Osteobl	bone
25	chr22:30095800-30101400	Enhancers	HSMMtube	muscle
26	chr22:30095800-30101600	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr22:30095800-30103000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr22:30096000-30097400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr22:30096000-30099200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr22:30096000-30103600	Enhancers	Fetal Brain Male	brain
31	chr22:30096200-30097800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr22:30096200-30098400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr22:30096200-30098400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr22:30096200-30098600	Bivalent Enhancer	Fetal Stomach	stomach
35	chr22:30096200-30103200	Enhancers	Fetal Brain Female	brain
36	chr22:30096400-30097200	Enhancers	Colonic Mucosa	Colon
37	chr22:30096400-30097600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr22:30096400-30097600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr22:30096400-30097800	Enhancers	Primary T cells fromperipheralblood	blood
40	chr22:30096400-30097800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr22:30096400-30098000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr22:30096400-30098000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr22:30096400-30098200	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr22:30096400-30098400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
45	chr22:30096400-30098600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
46	chr22:30096400-30098600	Enhancers	Fetal Lung	lung
47	chr22:30096400-30098800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
48	chr22:30096400-30098800	Enhancers	Brain Hippocampus Middle	brain
49	chr22:30096400-30099000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
50	chr22:30096400-30099000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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