Variant report

Variant	rs61658243
Chromosome Location	chr12:56422690-56422691
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:56422662-56422985	IMR90	lung:	n/a	n/a
2	GATA3	chr12:56422618-56423274	MCF-7	breast:	n/a	n/a
3	ZNF217	chr12:56422655-56423306	MCF-7	breast:	n/a	n/a
4	CEBPB	chr12:56422563-56423122	MCF-7	breast:	n/a	n/a
5	NR2F2	chr12:56422667-56423351	MCF-7	breast:	n/a	n/a
6	GATA3	chr12:56422646-56423295	T-47D	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56421691..56428762-chr12:56433229..56437460,13	MCF-7	breast:
2	chr12:56414513..56416676-chr12:56421694..56423557,2	K562	blood:
3	chr12:56387127..56392729-chr12:56419203..56425417,17	MCF-7	breast:
4	chr12:56421656..56424800-chr12:56509383..56513294,3	MCF-7	breast:
5	chr12:56400024..56405744-chr12:56418580..56425265,13	MCF-7	breast:
6	chr12:56387922..56391678-chr12:56420770..56424828,6	MCF-7	breast:
7	chr12:56390476..56392959-chr12:56421317..56423015,2	K562	blood:
8	chr12:56417571..56419530-chr12:56422251..56424332,2	K562	blood:
9	chr12:56422020..56423685-chr12:56426127..56428274,2	K562	blood:

No data

Variant related genes	Relation type
IKZF4	TF binding region
ENSG00000197728	Chromatin interaction
ENSG00000139531	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000123411	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000257449	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55954216	1.00[AMR][1000 genomes]
rs59977939	1.00[AMR][1000 genomes]
rs7302270	1.00[AMR][1000 genomes]
rs772469	1.00[AMR][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	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

No data

Chromatin state (count:120 , 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	chr12:56402400-56423000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:56406000-56422800	Weak transcription	HSMM	muscle
4	chr12:56409400-56435000	Weak transcription	Stomach Mucosa	stomach
5	chr12:56415600-56426200	Weak transcription	Aorta	Aorta
6	chr12:56416000-56422800	Weak transcription	NH-A	brain
7	chr12:56416000-56426000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:56416000-56434800	Weak transcription	Primary B cells from cord blood	blood
9	chr12:56416000-56434800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr12:56416000-56435000	Weak transcription	Right Atrium	heart
11	chr12:56416200-56425800	Weak transcription	Small Intestine	intestine
12	chr12:56416200-56426000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:56416200-56426000	Weak transcription	Colonic Mucosa	Colon
14	chr12:56416200-56434800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:56416400-56431000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:56416600-56422800	Weak transcription	HepG2	liver
17	chr12:56416600-56431000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr12:56417400-56430800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:56417800-56423200	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr12:56417800-56430600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:56418000-56423600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:56418000-56425400	Weak transcription	Fetal Brain Male	brain
23	chr12:56418000-56431000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:56418200-56423400	Strong transcription	Brain Anterior Caudate	brain
25	chr12:56418200-56423800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:56418200-56423800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:56418200-56427200	Strong transcription	K562	blood
28	chr12:56418200-56432600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:56418400-56422800	Strong transcription	Fetal Intestine Small	intestine
30	chr12:56418400-56423000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:56418400-56423000	Strong transcription	Brain Cingulate Gyrus	brain
32	chr12:56418400-56423200	Strong transcription	Ovary	ovary
33	chr12:56418400-56423600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:56418400-56423800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:56418400-56424000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:56418400-56424000	Strong transcription	Dnd41	blood
37	chr12:56418400-56424200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:56418400-56432000	Strong transcription	Brain Germinal Matrix	brain
39	chr12:56418400-56432800	Strong transcription	Fetal Brain Female	brain
40	chr12:56418400-56433000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:56418600-56423000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:56418600-56423200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:56418600-56423200	Strong transcription	Colon Smooth Muscle	Colon
44	chr12:56418600-56423200	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:56418600-56423800	Strong transcription	Brain Hippocampus Middle	brain
46	chr12:56418600-56431400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:56418600-56433200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr12:56418800-56423400	Strong transcription	Brain Angular Gyrus	brain
49	chr12:56418800-56423400	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:56418800-56424200	Strong transcription	HUES48 Cell Line	embryonic stem cell

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