Variant report

Variant	rs703841
Chromosome Location	chr12:57942305-57942306
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr12:57942218-57942527	K562	blood:	n/a	n/a
2	EP300	chr12:57942147-57942723	K562	blood:	n/a	n/a
3	CEBPB	chr12:57942224-57942478	K562	blood:	n/a	n/a
4	MAFK	chr12:57942263-57942809	K562	blood:	n/a	n/a
5	RCOR1	chr12:57942255-57942546	K562	blood:	n/a	n/a
6	MAZ	chr12:57942289-57942485	K562	blood:	n/a	n/a
7	RCOR1	chr12:57942173-57942575	K562	blood:	n/a	n/a
8	JUND	chr12:57942207-57942631	K562	blood:	n/a	n/a
9	CEBPB	chr12:57942174-57942554	K562	blood:	n/a	n/a
10	CEBPB	chr12:57942188-57942548	K562	blood:	n/a	n/a
11	ARID3A	chr12:57942063-57942305	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57940714..57942505-chr12:58117953..58120525,2	MCF-7	breast:
2	chr12:57938950..57942640-chr12:57942750..57946701,7	K562	blood:
3	chr12:57941183..57943777-chr12:57985208..57987088,2	K562	blood:
4	chr12:57940172..57943060-chr12:58144511..58146770,2	K562	blood:
5	chr12:57926877..57929356-chr12:57942157..57944626,2	MCF-7	breast:
6	chr12:57939429..57943777-chr12:57984797..57987088,3	K562	blood:
7	chr12:57940849..57942387-chr12:58138816..58140678,2	K562	blood:
8	chr12:57941453..57943242-chr12:58011783..58014588,2	MCF-7	breast:
9	chr12:57939918..57942387-chr12:58138816..58141058,2	K562	blood:
10	chr12:57940214..57942562-chr12:57943543..57945159,2	MCF-7	breast:

No data

Variant related genes	Relation type
KIF5A	TF binding region
DCTN2	TF binding region
ENSG00000255737	Chromatin interaction
ENSG00000155980	Chromatin interaction
ENSG00000135502	Chromatin interaction
ENSG00000175203	Chromatin interaction
ENSG00000257499	Chromatin interaction
ENSG00000224713	Chromatin interaction
ENSG00000135452	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000166908	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1148552	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1148556	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs11609196	1.00[MEX][hapmap]
rs11830874	1.00[GIH][hapmap]
rs1284185	1.00[MEX][hapmap]
rs2600003	0.85[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs2620678	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6581146	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.95[EUR][1000 genomes]
rs7973381	1.00[GIH][hapmap]

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	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
2	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking 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 miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv559033	chr12:57848639-57946477	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
8	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
9	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
10	nsv1053930	chr12:57921188-57969659	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57941000-57942400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:57941000-57942600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:57941000-57943200	Weak transcription	Gastric	stomach
4	chr12:57941200-57943000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:57941200-57943200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:57941200-57943800	Weak transcription	Pancreas	Pancrea
7	chr12:57941400-57943000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:57941400-57943000	Weak transcription	Brain Anterior Caudate	brain
9	chr12:57941400-57943000	Weak transcription	Brain Germinal Matrix	brain
10	chr12:57941400-57943000	Weak transcription	Fetal Brain Male	brain
11	chr12:57941400-57943000	Weak transcription	Fetal Brain Female	brain
12	chr12:57941400-57943200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:57941400-57943200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:57941400-57943200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:57941400-57943200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:57941400-57943200	Weak transcription	Brain Substantia Nigra	brain
17	chr12:57941400-57943400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:57941400-57943400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:57941400-57943400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:57941600-57942400	Enhancers	A549	lung
21	chr12:57941600-57942400	Enhancers	K562	blood
22	chr12:57941600-57943000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:57941600-57943000	Weak transcription	Brain Angular Gyrus	brain
24	chr12:57941600-57943000	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:57941600-57943200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:57941600-57943400	Weak transcription	Aorta	Aorta
27	chr12:57941600-57943400	Weak transcription	HMEC	breast
28	chr12:57941800-57943000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr12:57941800-57943200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr12:57941800-57943200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr12:57941800-57943200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:57941800-57943400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:57942200-57943200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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