Variant report

Variant	rs7301001
Chromosome Location	chr12:46830841-46830842
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46761485..46763714-chr12:46828699..46831336,2	MCF-7	breast:
2	chr12:46763770..46766829-chr12:46827133..46832449,5	MCF-7	breast:
3	chr12:46747388..46749855-chr12:46827679..46831428,3	K562	blood:
4	chr12:46760616..46768014-chr12:46824033..46835241,16	K562	blood:

Variant related genes	Relation type
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10748448	0.84[AMR][1000 genomes]
rs10785627	0.89[AMR][1000 genomes]
rs10880966	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10880967	0.86[AMR][1000 genomes]
rs10880968	0.89[AMR][1000 genomes]
rs10880969	0.86[AMR][1000 genomes]
rs10880970	0.93[AMR][1000 genomes]
rs10880971	0.88[AMR][1000 genomes]
rs11183478	0.86[AMR][1000 genomes]
rs11183479	0.86[AMR][1000 genomes]
rs11183483	0.86[AMR][1000 genomes]
rs11183484	0.90[AMR][1000 genomes]
rs11183486	0.89[AMR][1000 genomes]
rs11183488	0.88[AMR][1000 genomes]
rs1125909	0.82[AMR][1000 genomes]
rs11534993	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12099669	0.82[AMR][1000 genomes]
rs12298616	0.88[AMR][1000 genomes]
rs12314541	0.84[AMR][1000 genomes]
rs12319162	0.90[AMR][1000 genomes]
rs12813763	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12814298	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12814341	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12822345	0.90[AMR][1000 genomes]
rs12824565	0.90[AMR][1000 genomes]
rs12827740	0.82[EUR][1000 genomes]
rs12832425	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12832777	0.90[AMR][1000 genomes]
rs1472179	0.84[AMR][1000 genomes]
rs1492895	0.83[AMR][1000 genomes]
rs2131371	0.82[AMR][1000 genomes]
rs2220727	0.80[AMR][1000 genomes]
rs2408497	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2408498	0.83[AMR][1000 genomes]
rs2897951	0.83[AMR][1000 genomes]
rs34472481	0.82[EUR][1000 genomes]
rs3936214	0.82[AMR][1000 genomes]
rs4072304	0.86[AMR][1000 genomes]
rs4076247	0.93[AMR][1000 genomes]
rs4076248	0.84[EUR][1000 genomes]
rs4076484	0.85[EUR][1000 genomes]
rs4258438	0.80[AMR][1000 genomes]
rs4427617	0.82[AMR][1000 genomes]
rs4768118	0.84[AMR][1000 genomes]
rs4768119	0.80[AMR][1000 genomes]
rs4768121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768122	0.90[AMR][1000 genomes]
rs4768709	0.80[AMR][1000 genomes]
rs4768710	0.83[AMR][1000 genomes]
rs4768711	0.82[AMR][1000 genomes]
rs4768712	0.86[AMR][1000 genomes]
rs4768713	0.86[AMR][1000 genomes]
rs4768714	0.86[AMR][1000 genomes]
rs4768716	0.90[AMR][1000 genomes]
rs4768717	0.93[AMR][1000 genomes]
rs4768718	0.93[AMR][1000 genomes]
rs4768719	0.85[AMR][1000 genomes]
rs6582641	0.80[AMR][1000 genomes]
rs6582645	0.80[AMR][1000 genomes]
rs6582646	0.82[AMR][1000 genomes]
rs6582656	0.81[AMR][1000 genomes]
rs7134289	0.90[AMR][1000 genomes]
rs7308910	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7311504	0.93[AMR][1000 genomes]
rs7312259	0.82[AMR][1000 genomes]
rs7485580	0.93[AMR][1000 genomes]
rs7485599	0.90[AMR][1000 genomes]
rs7486495	0.89[AMR][1000 genomes]
rs7486532	0.88[AMR][1000 genomes]
rs7486580	0.89[AMR][1000 genomes]
rs7487075	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7487877	0.88[AMR][1000 genomes]
rs7488450	0.86[AMR][1000 genomes]
rs7489242	0.86[AMR][1000 genomes]
rs7959731	0.90[AMR][1000 genomes]
rs7968897	0.84[AMR][1000 genomes]
rs7976280	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9669404	0.83[AMR][1000 genomes]
rs9971879	0.83[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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46821600-46848600	Weak transcription	Primary B cells from cord blood	blood
2	chr12:46822400-46833600	Enhancers	Hela-S3	cervix
3	chr12:46825400-46844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:46825600-46843800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:46826400-46832600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:46826400-46832600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:46826400-46836000	Weak transcription	NH-A	brain
8	chr12:46826400-46839200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:46826600-46836400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:46826800-46836000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:46828000-46831800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:46828000-46832600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:46828000-46833600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:46828000-46835800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:46828000-46856000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:46828200-46832600	Weak transcription	NHEK	skin
17	chr12:46828200-46833600	Weak transcription	HMEC	breast
18	chr12:46828800-46831400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:46829000-46832400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:46829200-46831600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:46830400-46831600	Enhancers	A549	lung
22	chr12:46830600-46831000	Enhancers	NHLF	lung
23	chr12:46830600-46831200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:46830600-46831200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr12:46830600-46831200	Enhancers	Left Ventricle	heart
26	chr12:46830600-46831200	Enhancers	Ovary	ovary
27	chr12:46830600-46831200	Enhancers	K562	blood
28	chr12:46830600-46834800	Enhancers	HUVEC	blood vessel
29	chr12:46830800-46832000	Weak transcription	Pancreas	Pancrea

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