Variant report

Variant	rs71459333
Chromosome Location	chr12:56425552-56425553
allele	G/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	STAT3	chr12:56425424-56425624	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr12:56424088-56427723	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:56421691..56428762-chr12:56433229..56437460,13	MCF-7	breast:
2	chr12:56415122..56418251-chr12:56424382..56426492,3	MCF-7	breast:
3	chr12:56424810..56427622-chr12:56435520..56438792,3	K562	blood:

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12817671	1.00[AFR][1000 genomes]
rs12831884	1.00[AFR][1000 genomes]
rs3816804	1.00[AFR][1000 genomes]
rs71459332	1.00[AFR][1000 genomes]
rs71459335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][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	chr12:56418000-56431000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:56418200-56427200	Strong transcription	K562	blood
18	chr12:56418200-56432600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:56418400-56432000	Strong transcription	Brain Germinal Matrix	brain
20	chr12:56418400-56432800	Strong transcription	Fetal Brain Female	brain
21	chr12:56418400-56433000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:56418600-56431400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:56418600-56433200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:56419000-56426000	Weak transcription	Pancreas	Pancrea
25	chr12:56419600-56425800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:56421000-56426000	Weak transcription	Esophagus	oesophagus
27	chr12:56421200-56426400	Weak transcription	Right Ventricle	heart
28	chr12:56421200-56430000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:56421600-56425800	Weak transcription	HSMMtube	muscle
30	chr12:56421600-56426200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:56421800-56426000	Weak transcription	Spleen	Spleen
32	chr12:56421800-56426200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:56421800-56426200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:56421800-56426800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:56421800-56428400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:56421800-56434600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr12:56422000-56425800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr12:56422000-56425800	Weak transcription	Gastric	stomach
39	chr12:56422000-56425800	Weak transcription	Lung	lung
40	chr12:56422000-56425800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr12:56422000-56426000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr12:56422000-56426200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr12:56422600-56426200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:56422800-56425800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr12:56422800-56426000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr12:56422800-56426000	Weak transcription	Thymus	Thymus
47	chr12:56423000-56425800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:56423000-56425800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr12:56423000-56426000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:56423000-56426200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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