Variant report

Variant	rs12312648
Chromosome Location	chr12:121564391-121564392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121564281..121567226-chr12:121569639..121571152,2	MCF-7	breast:
2	chr12:121563121..121566575-chr12:121568260..121572155,4	K562	blood:
3	chr12:121561171..121566774-chr12:121646455..121649214,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135124	Chromatin interaction
ENSG00000089041	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11065444	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180000	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1180001	0.95[ASN][1000 genomes]
rs1180002	0.95[ASN][1000 genomes]
rs1180003	0.95[ASN][1000 genomes]
rs1180004	0.95[ASN][1000 genomes]
rs1180006	0.90[ASN][1000 genomes]
rs1180007	0.88[ASN][1000 genomes]
rs1180010	0.97[ASN][1000 genomes]
rs1182936	0.95[ASN][1000 genomes]
rs1185890	0.95[ASN][1000 genomes]
rs1186228	0.92[ASN][1000 genomes]
rs12297280	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310654	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310981	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12312695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314721	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12830607	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1618331	0.97[ASN][1000 genomes]
rs1626124	0.97[ASN][1000 genomes]
rs1794892	0.95[ASN][1000 genomes]
rs1794895	0.95[ASN][1000 genomes]
rs1794896	0.95[ASN][1000 genomes]
rs1794899	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1794900	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1794902	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1796412	0.97[ASN][1000 genomes]
rs1796413	0.82[ASN][1000 genomes]
rs1796416	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1796417	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1796421	0.95[ASN][1000 genomes]
rs1796423	0.95[ASN][1000 genomes]
rs208278	1.00[ASN][1000 genomes]
rs208279	1.00[ASN][1000 genomes]
rs208282	1.00[ASN][1000 genomes]
rs208283	1.00[ASN][1000 genomes]
rs2263270	0.95[ASN][1000 genomes]
rs2461473	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2464842	0.85[ASN][1000 genomes]
rs2516210	0.95[ASN][1000 genomes]
rs2708091	0.95[ASN][1000 genomes]
rs35694882	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523581	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs552299	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57263663	0.90[AFR][1000 genomes]
rs589384	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs621255	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs637649	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs648316	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs651221	0.98[ASN][1000 genomes]
rs651606	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs651673	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs652121	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71454678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9805004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9971689	0.95[ASN][1000 genomes]
rs9971789	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9971861	0.95[ASN][1000 genomes]
rs9971870	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9971935	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9971953	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv430537	chr12:121487632-121579955	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv899563	chr12:121543011-121600529	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121555400-121565800	Weak transcription	Gastric	stomach
2	chr12:121561400-121565800	Enhancers	HepG2	liver
3	chr12:121561600-121566200	Weak transcription	Thymus	Thymus
4	chr12:121562200-121566000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:121562200-121566000	Weak transcription	K562	blood
6	chr12:121562200-121566600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:121562400-121565800	Weak transcription	Fetal Thymus	thymus
8	chr12:121562400-121566800	Enhancers	Primary hematopoietic stem cells	blood
9	chr12:121562400-121570600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:121562600-121565800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:121562600-121565800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:121562600-121566000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:121562600-121566400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:121562600-121566600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:121562600-121566600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:121562600-121566800	Weak transcription	A549	lung
17	chr12:121562800-121565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:121562800-121565400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:121562800-121565600	Weak transcription	Primary T cells from cord blood	blood
20	chr12:121562800-121566000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr12:121562800-121566000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:121562800-121566000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:121562800-121566000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr12:121562800-121566000	Weak transcription	HUVEC	blood vessel
25	chr12:121562800-121566200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:121562800-121566800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:121562800-121566800	Weak transcription	Fetal Heart	heart
28	chr12:121562800-121569200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:121562800-121570400	Weak transcription	Ovary	ovary
30	chr12:121563000-121565000	Weak transcription	Stomach Mucosa	stomach
31	chr12:121563000-121566800	Weak transcription	NHEK	skin
32	chr12:121563000-121569400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:121563200-121565800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr12:121563200-121565800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:121563200-121565800	Weak transcription	Left Ventricle	heart
36	chr12:121563400-121565800	Weak transcription	Placenta	Placenta
37	chr12:121563600-121566600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:121564000-121564400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:121564000-121565000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr12:121564000-121566000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:121564000-121566600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr12:121564000-121566600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:121564000-121567400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr12:121564000-121568600	Enhancers	Liver	Liver
45	chr12:121564200-121566000	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr12:121564200-121570600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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