Variant report

Variant	rs12830607
Chromosome Location	chr12:121562482-121562483
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121562465..121564050-chr12:121566966..121568974,2	MCF-7	breast:
2	chr12:121561837..121563360-chr12:121583686..121585355,2	K562	blood:
3	chr12:121561171..121566774-chr12:121646455..121649214,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135124	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs11065444	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1180000	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1180001	0.97[ASN][1000 genomes]
rs1180002	0.97[ASN][1000 genomes]
rs1180003	0.97[ASN][1000 genomes]
rs1180004	0.97[ASN][1000 genomes]
rs1180006	0.92[ASN][1000 genomes]
rs1180007	0.89[ASN][1000 genomes]
rs1180010	0.95[ASN][1000 genomes]
rs1182936	0.97[ASN][1000 genomes]
rs1185890	0.97[ASN][1000 genomes]
rs1186228	0.93[ASN][1000 genomes]
rs12297280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12310654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12310981	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12312648	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12312695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12312758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12314721	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12821512	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1618331	0.98[ASN][1000 genomes]
rs1626124	0.98[ASN][1000 genomes]
rs1653598	0.86[CHB][hapmap]
rs1718119	0.86[CHB][hapmap]
rs1718133	0.86[CHB][hapmap]
rs1718136	0.86[CHB][hapmap]
rs1794892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1794895	0.97[ASN][1000 genomes]
rs1794896	0.97[ASN][1000 genomes]
rs1794899	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1794900	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1794902	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1796412	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1796413	0.83[ASN][1000 genomes]
rs1796416	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1796417	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1796421	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1796423	0.97[ASN][1000 genomes]
rs208278	0.98[ASN][1000 genomes]
rs208279	0.98[ASN][1000 genomes]
rs208282	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs208283	0.98[ASN][1000 genomes]
rs208298	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs208305	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs208306	0.85[JPT][hapmap]
rs208307	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs208308	0.85[JPT][hapmap]
rs208311	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs2263270	0.97[ASN][1000 genomes]
rs2461473	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2464842	0.87[ASN][1000 genomes]
rs2516210	0.97[ASN][1000 genomes]
rs2567991	0.86[CHB][hapmap]
rs2708091	0.97[ASN][1000 genomes]
rs35694882	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs503720	0.85[JPT][hapmap]
rs504677	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs507085	0.85[JPT][hapmap]
rs523581	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552299	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589384	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs621255	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs637649	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs648316	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs651221	1.00[ASN][1000 genomes]
rs651606	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs651673	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652121	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71454678	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs891781	0.86[CHB][hapmap]
rs9805004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9971689	0.97[ASN][1000 genomes]
rs9971789	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9971861	0.97[ASN][1000 genomes]
rs9971870	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9971935	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9971953	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121555400-121565800	Weak transcription	Gastric	stomach
2	chr12:121559000-121563600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:121559600-121564000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:121560800-121562800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:121561000-121562800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:121561000-121563200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr12:121561000-121563400	Enhancers	Placenta	Placenta
8	chr12:121561200-121562600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:121561200-121562600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr12:121561200-121562800	Enhancers	Primary T cells from cord blood	blood
11	chr12:121561200-121562800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr12:121561200-121562800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr12:121561200-121562800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr12:121561400-121562600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:121561400-121562800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr12:121561400-121563200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:121561400-121565800	Enhancers	HepG2	liver
18	chr12:121561600-121566200	Weak transcription	Thymus	Thymus
19	chr12:121561800-121562600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:121561800-121562600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr12:121561800-121562600	Enhancers	A549	lung
22	chr12:121561800-121562600	Enhancers	NH-A	brain
23	chr12:121561800-121562600	Enhancers	NHLF	lung
24	chr12:121561800-121562800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:121561800-121562800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:121561800-121562800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:121561800-121562800	Enhancers	Fetal Heart	heart
28	chr12:121561800-121562800	Enhancers	Hela-S3	cervix
29	chr12:121561800-121562800	Enhancers	HMEC	breast
30	chr12:121561800-121562800	Enhancers	HSMM	muscle
31	chr12:121561800-121562800	Enhancers	HUVEC	blood vessel
32	chr12:121561800-121563000	Enhancers	NHEK	skin
33	chr12:121562000-121562600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:121562000-121562600	Enhancers	HSMMtube	muscle
35	chr12:121562000-121562600	Enhancers	NHDF-Ad	bronchial
36	chr12:121562000-121562800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr12:121562000-121562800	Enhancers	Osteobl	bone
38	chr12:121562000-121563000	Enhancers	Stomach Mucosa	stomach
39	chr12:121562200-121562600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr12:121562200-121562600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:121562200-121562600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:121562200-121562800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:121562200-121562800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:121562200-121562800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:121562200-121562800	Enhancers	Fetal Muscle Trunk	muscle
46	chr12:121562200-121562800	Enhancers	Ovary	ovary
47	chr12:121562200-121563000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:121562200-121564000	Weak transcription	Liver	Liver
49	chr12:121562200-121566000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr12:121562200-121566000	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links