Variant report

Variant	rs772917
Chromosome Location	chr12:56424853-56424854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56424088-56427723	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56421691..56428762-chr12:56433229..56437460,13	MCF-7	breast:
2	chr12:56387127..56392729-chr12:56419203..56425417,17	MCF-7	breast:
3	chr12:56423139..56424988-chr12:56433450..56436420,2	MCF-7	breast:
4	chr12:56415122..56418251-chr12:56424382..56426492,3	MCF-7	breast:
5	chr12:56400024..56405744-chr12:56418580..56425265,13	MCF-7	breast:
6	chr12:56422809..56425034-chr12:56509030..56512003,2	MCF-7	breast:
7	chr12:56424810..56427622-chr12:56435520..56438792,3	K562	blood:

No data

Variant related genes	Relation type
IKZF4	TF binding region
ENSG00000197728	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000123411	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000139531	Chromatin interaction
ENSG00000257449	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11171736	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1581007	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1619653	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1689507	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1689516	0.95[AFR][1000 genomes]
rs1701705	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1702870	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1702871	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1702875	0.90[AFR][1000 genomes]
rs2452822	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2452826	0.95[AFR][1000 genomes]
rs2456445	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2456446	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2456969	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs705706	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7309340	0.81[AFR][1000 genomes]
rs772924	0.92[AFR][1000 genomes]
rs772925	0.96[AFR][1000 genomes]
rs772926	0.96[AFR][1000 genomes]
rs773118	0.87[AFR][1000 genomes]
rs7977521	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs808896	0.92[AFR][1000 genomes]
rs808905	0.82[AFR][1000 genomes]
rs9645818	0.85[AFR][1000 genomes]
rs9738150	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv832427	chr12:56392545-56512774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv1067906	chr12:56424828-56445284	Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56402200-56434800	Weak transcription	Psoas Muscle	Psoas
2	chr12:56409400-56435000	Weak transcription	Stomach Mucosa	stomach
3	chr12:56415600-56426200	Weak transcription	Aorta	Aorta
4	chr12:56416000-56426000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:56416000-56434800	Weak transcription	Primary B cells from cord blood	blood
6	chr12:56416000-56434800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr12:56416000-56435000	Weak transcription	Right Atrium	heart
8	chr12:56416200-56425800	Weak transcription	Small Intestine	intestine
9	chr12:56416200-56426000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:56416200-56426000	Weak transcription	Colonic Mucosa	Colon
11	chr12:56416200-56434800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:56416400-56431000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:56416600-56431000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:56417400-56430800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:56417800-56430600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:56418000-56425400	Weak transcription	Fetal Brain Male	brain
17	chr12:56418000-56431000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:56418200-56427200	Strong transcription	K562	blood
19	chr12:56418200-56432600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:56418400-56432000	Strong transcription	Brain Germinal Matrix	brain
21	chr12:56418400-56432800	Strong transcription	Fetal Brain Female	brain
22	chr12:56418400-56433000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:56418600-56431400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:56418600-56433200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:56419000-56426000	Weak transcription	Pancreas	Pancrea
26	chr12:56419600-56425800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:56421000-56426000	Weak transcription	Esophagus	oesophagus
28	chr12:56421200-56426400	Weak transcription	Right Ventricle	heart
29	chr12:56421200-56430000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:56421600-56425800	Weak transcription	HSMMtube	muscle
31	chr12:56421600-56426200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:56421800-56425200	Weak transcription	Left Ventricle	heart
33	chr12:56421800-56426000	Weak transcription	Spleen	Spleen
34	chr12:56421800-56426200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:56421800-56426200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:56421800-56426800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:56421800-56428400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:56421800-56434600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr12:56422000-56425000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:56422000-56425800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:56422000-56425800	Weak transcription	Gastric	stomach
42	chr12:56422000-56425800	Weak transcription	Lung	lung
43	chr12:56422000-56425800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr12:56422000-56426000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:56422000-56426200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr12:56422600-56426200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr12:56422800-56425200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:56422800-56425400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr12:56422800-56425800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr12:56422800-56426000	Weak transcription	H9 Cell Line	embryonic stem cell

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