Variant report

Variant	rs73293430
Chromosome Location	chr12:50270421-50270422
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50270045..50272990-chr12:50279975..50282889,2	MCF-7	breast:
2	chr12:50261492..50264871-chr12:50267070..50272951,8	MCF-7	breast:
3	chr12:50269088..50271373-chr12:50274652..50276581,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs296740	1.00[EUR][1000 genomes]
rs297934	1.00[EUR][1000 genomes]
rs408045	1.00[AMR][1000 genomes]
rs60288211	1.00[EUR][1000 genomes]
rs61606159	1.00[EUR][1000 genomes]
rs73293448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74091013	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74091103	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong 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	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv3372497	chr12:50269585-50276583	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3401982	chr12:50270085-50275683	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3380248	chr12:50270185-50275783	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3378768	chr12:50270385-50275883	ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50262000-50270800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:50263600-50270800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:50263800-50271800	Weak transcription	Pancreas	Pancrea
4	chr12:50264600-50271600	Weak transcription	Fetal Brain Male	brain
5	chr12:50266200-50275400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:50266800-50271400	Weak transcription	Fetal Brain Female	brain
7	chr12:50267000-50275800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:50267000-50297000	Weak transcription	Right Atrium	heart
9	chr12:50268200-50276400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:50268600-50270800	Weak transcription	Brain Germinal Matrix	brain
11	chr12:50268600-50271400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:50268800-50271600	Weak transcription	Fetal Kidney	kidney
13	chr12:50269000-50274800	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr12:50269200-50271400	Weak transcription	Brain Anterior Caudate	brain
15	chr12:50269200-50271400	Weak transcription	K562	blood
16	chr12:50269200-50271600	Weak transcription	Brain Substantia Nigra	brain
17	chr12:50269200-50273200	Strong transcription	Brain Angular Gyrus	brain
18	chr12:50269200-50274600	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:50269400-50275400	Weak transcription	Fetal Stomach	stomach
20	chr12:50269800-50272000	Strong transcription	Brain Hippocampus Middle	brain
21	chr12:50270000-50276400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:50270400-50271200	Weak transcription	Brain Cingulate Gyrus	brain

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