Variant report

Variant	rs13353074
Chromosome Location	chr12:58024964-58024965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr12:58024876-58025184	K562	blood:	n/a	n/a
2	CTBP2	chr12:58024726-58027119	H1-hESC	embryonic stem cell:	n/a	n/a
3	NR2F2	chr12:58024849-58025227	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:58004618..58008024-chr12:58024930..58028098,5	MCF-7	breast:
2	chr12:57912525..57914628-chr12:58024523..58026539,2	MCF-7	breast:
3	chr12:57908910..57916122-chr12:58022622..58031573,17	K562	blood:
4	chr12:57983573..57987941-chr12:58024849..58028209,5	MCF-7	breast:
5	chr12:57916469..57918452-chr12:58024223..58025919,2	K562	blood:
6	chr12:57939451..57941325-chr12:58024374..58027583,3	K562	blood:
7	chr12:57908910..57916403-chr12:58022622..58028885,15	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DCTN2-2	chr12:58024911-58025147	NONHSAT028949

No data

Variant related genes	Relation type
B4GALNT1	TF binding region
ENSG00000240771	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000166908	Chromatin interaction
ENSG00000175203	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000175197	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11172327	1.00[AMR][1000 genomes]
rs11172341	1.00[AMR][1000 genomes]
rs12296818	0.90[AFR][1000 genomes]
rs12302696	1.00[AMR][1000 genomes]
rs17119958	1.00[AMR][1000 genomes]
rs7960103	0.83[AFR][1000 genomes]
rs7966948	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv541504	chr12:57958701-58062311	Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58017000-58025000	Weak transcription	K562	blood
2	chr12:58019400-58025200	Weak transcription	Hela-S3	cervix
3	chr12:58020600-58026200	Weak transcription	Aorta	Aorta
4	chr12:58020800-58025200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:58021400-58025600	Weak transcription	HMEC	breast
6	chr12:58022000-58025600	Weak transcription	Pancreas	Pancrea
7	chr12:58022600-58025600	Weak transcription	Gastric	stomach
8	chr12:58023000-58025600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:58023400-58025400	Enhancers	Brain Cingulate Gyrus	brain
10	chr12:58024000-58025000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr12:58024000-58025000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:58024000-58025800	Enhancers	Brain Substantia Nigra	brain
13	chr12:58024200-58025600	Weak transcription	Psoas Muscle	Psoas
14	chr12:58024400-58025000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:58024600-58025200	Bivalent Enhancer	Fetal Brain Male	brain
16	chr12:58024600-58025400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:58024600-58025400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
18	chr12:58024600-58025600	Flanking Active TSS	Fetal Brain Female	brain
19	chr12:58024800-58025000	Flanking Active TSS	Brain Angular Gyrus	brain
20	chr12:58024800-58025000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr12:58024800-58025000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:58024800-58025000	Bivalent Enhancer	Colon Smooth Muscle	Colon
23	chr12:58024800-58025200	Bivalent Enhancer	Brain Anterior Caudate	brain
24	chr12:58024800-58025200	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr12:58024800-58025200	Weak transcription	A549	lung
26	chr12:58024800-58025400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr12:58024800-58025400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:58024800-58025400	Bivalent Enhancer	Brain Hippocampus Middle	brain
29	chr12:58024800-58025600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:58024800-58025600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:58024800-58025800	Enhancers	HepG2	liver

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