Variant report

Variant	rs73293337
Chromosome Location	chr12:12421624-12421625
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:12378227..12379810-chr12:12418939..12421766,2	K562	blood:
2	chr12:12400936..12406172-chr12:12417674..12422348,4	K562	blood:
3	chr12:12229163..12231212-chr12:12420011..12422255,2	K562	blood:
4	chr12:12419370..12422118-chr12:12510348..12512093,2	MCF-7	breast:
5	chr12:12393044..12397840-chr12:12419223..12421821,5	MCF-7	breast:
6	chr12:12420270..12422598-chr12:12424124..12428048,6	K562	blood:
7	chr12:12411626..12414518-chr12:12420226..12422396,2	K562	blood:
8	chr12:12420321..12422188-chr12:12434856..12437059,2	MCF-7	breast:
9	chr12:12420258..12422244-chr12:12868437..12870930,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000199551	Chromatin interaction
ENSG00000270857	Chromatin interaction
ENSG00000070018	Chromatin interaction
ENSG00000111276	Chromatin interaction
ENSG00000165714	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11054762	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11054765	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313063	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321230	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57125171	0.83[ASN][1000 genomes]
rs58389257	1.00[EUR][1000 genomes]
rs73275029	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73275034	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73275042	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74061124	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061127	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061140	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061143	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061150	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061155	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061157	1.00[ASN][1000 genomes]
rs74061158	1.00[EUR][1000 genomes];1.00[ASN][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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv3427115	chr12:12262415-12432411	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12420800-12425600	Weak transcription	HSMM	muscle
2	chr12:12421000-12421800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:12421000-12422200	Weak transcription	Placenta	Placenta
4	chr12:12421000-12423800	Weak transcription	Right Atrium	heart
5	chr12:12421000-12425200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:12421000-12425200	Weak transcription	NHDF-Ad	bronchial
7	chr12:12421000-12425200	Weak transcription	Osteobl	bone
8	chr12:12421000-12425600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:12421000-12425600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:12421000-12425600	Weak transcription	NHLF	lung
11	chr12:12421000-12425800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:12421000-12425800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:12421000-12425800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:12421000-12425800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:12421000-12425800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:12421000-12425800	Weak transcription	NH-A	brain
17	chr12:12421000-12426000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:12421000-12426000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr12:12421000-12436600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:12421200-12423600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:12421200-12423600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:12421200-12425600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:12421200-12425600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:12421200-12425600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:12421200-12425600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:12421200-12425800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:12421200-12425800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:12421200-12425800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:12421200-12425800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:12421200-12425800	Weak transcription	Fetal Kidney	kidney
31	chr12:12421200-12425800	Weak transcription	Fetal Lung	lung
32	chr12:12421200-12425800	Weak transcription	HMEC	breast
33	chr12:12421200-12426000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:12421200-12428800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:12421400-12423600	Weak transcription	A549	lung
36	chr12:12421400-12425600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:12421400-12425800	Weak transcription	Hela-S3	cervix
38	chr12:12421400-12426000	Weak transcription	HepG2	liver
39	chr12:12421400-12426400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:12421600-12426000	Weak transcription	H1 Cell Line	embryonic stem cell

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