Variant report

Variant	rs7965618
Chromosome Location	chr12:46828330-46828331
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46822440..46824303-chr12:46827711..46830028,2	K562	blood:
2	chr12:46761984..46768014-chr12:46824742..46829089,8	K562	blood:
3	chr12:46763770..46766829-chr12:46827133..46832449,5	MCF-7	breast:
4	chr12:46747388..46749855-chr12:46827679..46831428,3	K562	blood:
5	chr12:46760616..46768014-chr12:46824033..46835241,16	K562	blood:
6	chr12:46826312..46828736-chr12:46847839..46850473,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11183454	1.00[AMR][1000 genomes]
rs11183467	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11183482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11183487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1125908	1.00[AMR][1000 genomes]
rs11830080	1.00[EUR][1000 genomes]
rs11834905	1.00[AMR][1000 genomes]
rs11837634	1.00[EUR][1000 genomes]
rs12299499	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12317255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12320438	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12321512	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12321642	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12322378	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13377959	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17096884	1.00[AMR][1000 genomes]
rs17096896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17096922	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2085682	1.00[EUR][1000 genomes]
rs34280632	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35875247	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36010856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3742061	1.00[AMR][1000 genomes]
rs56036156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56160202	1.00[EUR][1000 genomes]
rs56196954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56314009	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57425661	1.00[AMR][1000 genomes]
rs58460251	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58890669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59608605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60565802	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60878594	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61406609	1.00[AMR][1000 genomes]
rs73282591	1.00[AMR][1000 genomes]
rs73290315	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082237	1.00[EUR][1000 genomes]
rs74082254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74082263	1.00[EUR][1000 genomes]
rs74082274	1.00[EUR][1000 genomes]
rs74083758	1.00[EUR][1000 genomes]
rs7488027	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7954314	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7967889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7977319	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs923788	1.00[AMR][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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46820000-46830600	Weak transcription	Ovary	ovary
2	chr12:46821600-46848600	Weak transcription	Primary B cells from cord blood	blood
3	chr12:46822400-46833600	Enhancers	Hela-S3	cervix
4	chr12:46824600-46828600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:46825400-46830600	Weak transcription	Left Ventricle	heart
6	chr12:46825400-46844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:46825600-46843800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:46826200-46828600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:46826400-46828600	Weak transcription	Fetal Lung	lung
10	chr12:46826400-46828800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:46826400-46829200	Weak transcription	HepG2	liver
12	chr12:46826400-46830600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:46826400-46832600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:46826400-46832600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:46826400-46836000	Weak transcription	NH-A	brain
16	chr12:46826400-46839200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:46826600-46828400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:46826600-46830600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:46826600-46836400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:46826800-46836000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:46828000-46830600	Weak transcription	NHLF	lung
22	chr12:46828000-46831800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:46828000-46832600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:46828000-46833600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:46828000-46835800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:46828000-46856000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:46828200-46828600	Weak transcription	A549	lung
28	chr12:46828200-46828800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:46828200-46829000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:46828200-46830600	Weak transcription	HUVEC	blood vessel
31	chr12:46828200-46830600	Weak transcription	K562	blood
32	chr12:46828200-46832600	Weak transcription	NHEK	skin
33	chr12:46828200-46833600	Weak transcription	HMEC	breast

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