Variant report

Variant	rs73356345
Chromosome Location	chr12:83151427-83151428
allele	A/C
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	POLR2A	chr12:83151426-83151815	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:83079676..83081707-chr12:83150851..83153057,2	MCF-7	breast:
2	chr12:83149723..83152212-chr12:83167569..83170218,2	MCF-7	breast:

Variant related genes	Relation type
TMTC2	TF binding region
ENSG00000179104	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs61043208	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6539685	1.00[EUR][1000 genomes]
rs7296617	1.00[EUR][1000 genomes]
rs7972064	1.00[EUR][1000 genomes]
rs7972826	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv427917	chr12:82917031-83279712	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	esv2758315	chr12:83101045-83357621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv2759911	chr12:83101045-83357621	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv2755991	chr12:83105631-83248605	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv469491	chr12:83108395-83203742	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv559543	chr12:83108395-83203742	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv2754173	chr12:83125000-83245838	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv2754509	chr12:83133090-83203742	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv999149	chr12:83137872-83206342	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83141000-83154200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:83147000-83160400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:83148200-83152800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:83148600-83152800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:83148800-83152800	Enhancers	Brain Cingulate Gyrus	brain
6	chr12:83148800-83153200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:83148800-83154400	Enhancers	Brain Substantia Nigra	brain
8	chr12:83149000-83151600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr12:83149000-83151600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr12:83149200-83155800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:83149200-83159600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:83149400-83151600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:83149400-83152000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:83149400-83154400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:83149400-83157400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr12:83150000-83151800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:83150000-83151800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr12:83150000-83152400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr12:83150000-83152400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr12:83150000-83158000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:83150200-83151600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:83150200-83151600	Enhancers	Fetal Lung	lung
23	chr12:83150200-83151800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr12:83150400-83151600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:83150400-83151800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:83150400-83153600	Enhancers	Brain Hippocampus Middle	brain
27	chr12:83150400-83155000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:83150400-83155200	Weak transcription	Pancreas	Pancrea
29	chr12:83150600-83151600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr12:83150600-83151600	Enhancers	Liver	Liver
31	chr12:83150600-83152000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:83150600-83152200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:83150600-83152600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:83150600-83155000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr12:83150600-83174400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:83150800-83151800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:83150800-83155400	Enhancers	Brain Anterior Caudate	brain
38	chr12:83150800-83158400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:83151000-83152000	Weak transcription	Brain Angular Gyrus	brain
40	chr12:83151000-83152600	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:83151000-83155000	Weak transcription	Fetal Kidney	kidney
42	chr12:83151000-83156000	Weak transcription	Fetal Stomach	stomach
43	chr12:83151200-83151800	Enhancers	Fetal Heart	heart
44	chr12:83151200-83154800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:83151400-83151600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:83151400-83151600	Enhancers	Rectal Smooth Muscle	rectum
47	chr12:83151400-83151800	Enhancers	Adipose Nuclei	Adipose

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