Variant report

Variant	rs74085404
Chromosome Location	chr12:46882975-46882976
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46881119..46884848-chr12:46886427..46890898,4	K562	blood:
2	chr12:46764043..46767775-chr12:46879403..46882999,4	K562	blood:
3	chr12:46764837..46767775-chr12:46880829..46884380,3	K562	blood:
4	chr12:46759647..46768800-chr12:46881212..46889672,42	MCF-7	breast:
5	chr12:46871119..46873013-chr12:46881445..46883647,2	MCF-7	breast:
6	chr12:46872950..46875847-chr12:46879914..46883290,3	K562	blood:
7	chr12:46773608..46782926-chr12:46881237..46891957,39	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257261	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000257496	Chromatin interaction
ENSG00000258096	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11183500	1.00[EUR][1000 genomes]
rs11183510	1.00[EUR][1000 genomes]
rs11183512	1.00[EUR][1000 genomes]
rs11183513	1.00[EUR][1000 genomes]
rs11830080	1.00[AMR][1000 genomes]
rs11830086	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11834444	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11837634	1.00[AMR][1000 genomes]
rs12296783	1.00[EUR][1000 genomes]
rs12317179	1.00[EUR][1000 genomes]
rs12321960	1.00[EUR][1000 genomes]
rs17096996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2085682	1.00[AMR][1000 genomes]
rs2408578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34098443	1.00[EUR][1000 genomes]
rs3935048	1.00[EUR][1000 genomes]
rs55649919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55698768	1.00[AMR][1000 genomes]
rs56160202	1.00[AMR][1000 genomes]
rs59451063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60325164	1.00[AMR][1000 genomes]
rs60876255	1.00[EUR][1000 genomes]
rs61351787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136748	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74081912	1.00[AMR][1000 genomes]
rs74082237	1.00[AMR][1000 genomes]
rs74082263	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74082274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74082433	1.00[AMR][1000 genomes]
rs74082454	1.00[AMR][1000 genomes]
rs74083751	1.00[AMR][1000 genomes]
rs74083758	1.00[AMR][1000 genomes]
rs74085421	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085432	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085444	1.00[EUR][1000 genomes]
rs74085447	1.00[EUR][1000 genomes]
rs7975472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7980023	1.00[EUR][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	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46844600-46886000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:46868000-46883200	Weak transcription	Fetal Heart	heart
3	chr12:46868600-46883000	Weak transcription	Left Ventricle	heart
4	chr12:46868600-46883400	Weak transcription	Psoas Muscle	Psoas
5	chr12:46868600-46889200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:46868800-46883400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:46868800-46886000	Weak transcription	HSMMtube	muscle
8	chr12:46871200-46887800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:46873600-46886000	Weak transcription	HSMM	muscle
10	chr12:46874800-46883400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:46877800-46883200	Weak transcription	NHEK	skin
12	chr12:46878000-46883200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:46878000-46883400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:46878000-46883400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:46878000-46883400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:46878000-46885400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:46878000-46887400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:46878200-46883000	Weak transcription	Ovary	ovary
19	chr12:46878200-46883000	Weak transcription	HMEC	breast
20	chr12:46878200-46883200	Weak transcription	NHLF	lung
21	chr12:46878200-46883400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:46878200-46883400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:46878200-46883400	Weak transcription	Liver	Liver
24	chr12:46878200-46883400	Weak transcription	Right Atrium	heart
25	chr12:46878200-46886600	Enhancers	HepG2	liver
26	chr12:46878200-46887000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:46878400-46883800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:46878600-46886000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:46880000-46883000	Weak transcription	A549	lung
30	chr12:46880000-46886000	Weak transcription	Right Ventricle	heart
31	chr12:46880600-46888600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:46880800-46883000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:46881000-46885200	Weak transcription	Placenta	Placenta
34	chr12:46881200-46884000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:46881600-46883200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:46881600-46883400	Weak transcription	Adipose Nuclei	Adipose
37	chr12:46881800-46884400	Weak transcription	Osteobl	bone
38	chr12:46881800-46888000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:46882400-46888600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:46882600-46886400	Enhancers	Hela-S3	cervix
41	chr12:46882600-46889600	Weak transcription	Primary B cells from cord blood	blood
42	chr12:46882800-46894200	Weak transcription	Primary B cells from peripheral blood	blood

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