Variant report

Variant	rs208281
Chromosome Location	chr12:121561937-121561938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121559257..121561994-chr12:121565943..121568175,2	K562	blood:
2	chr12:121561837..121563360-chr12:121583686..121585355,2	K562	blood:
3	chr12:121559081..121561979-chr12:121605012..121606674,2	MCF-7	breast:
4	chr12:121561171..121566774-chr12:121646455..121649214,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135124	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10735074	1.00[AMR][1000 genomes]
rs1169716	1.00[AMR][1000 genomes]
rs1169719	1.00[AMR][1000 genomes]
rs1169723	1.00[AMR][1000 genomes]
rs1169724	1.00[AMR][1000 genomes]
rs1169810	1.00[AMR][1000 genomes]
rs1180013	1.00[AMR][1000 genomes]
rs1180014	1.00[AMR][1000 genomes]
rs1180016	1.00[AMR][1000 genomes]
rs1186053	1.00[AMR][1000 genomes]
rs1630178	1.00[AMR][1000 genomes]
rs1653599	1.00[AMR][1000 genomes]
rs1653600	1.00[AMR][1000 genomes]
rs1653615	1.00[AMR][1000 genomes]
rs1718110	1.00[AMR][1000 genomes]
rs1718157	1.00[AMR][1000 genomes]
rs1794891	1.00[AMR][1000 genomes]
rs1794903	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1796418	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1975123	1.00[AMR][1000 genomes]
rs208285	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs208286	1.00[AMR][1000 genomes]
rs208297	1.00[AMR][1000 genomes]
rs2116500	1.00[AMR][1000 genomes]
rs2116501	1.00[AMR][1000 genomes]
rs2393848	1.00[AMR][1000 genomes]
rs2567983	1.00[AMR][1000 genomes]
rs2567998	1.00[AMR][1000 genomes]
rs2568004	1.00[AMR][1000 genomes]
rs2668248	1.00[AMR][1000 genomes]
rs2686365	1.00[AMR][1000 genomes]
rs2686366	1.00[AMR][1000 genomes]
rs2686381	1.00[AMR][1000 genomes]
rs2686383	1.00[AMR][1000 genomes]
rs2708094	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2948125	1.00[AMR][1000 genomes]
rs3861796	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs512239	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs566496	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs584133	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs657647	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs672632	1.00[AMR][1000 genomes]
rs680700	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs682104	0.89[AFR][1000 genomes];1.00[AMR][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121555400-121565800	Weak transcription	Gastric	stomach
2	chr12:121558600-121562200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:121559000-121563600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:121559600-121564000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:121560800-121562200	Enhancers	K562	blood
6	chr12:121560800-121562800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:121561000-121562800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:121561000-121563200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr12:121561000-121563400	Enhancers	Placenta	Placenta
10	chr12:121561200-121562200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:121561200-121562600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr12:121561200-121562600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr12:121561200-121562800	Enhancers	Primary T cells from cord blood	blood
14	chr12:121561200-121562800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr12:121561200-121562800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr12:121561200-121562800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr12:121561400-121562600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:121561400-121562800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr12:121561400-121563200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:121561400-121565800	Enhancers	HepG2	liver
21	chr12:121561600-121562200	Enhancers	Liver	Liver
22	chr12:121561600-121566200	Weak transcription	Thymus	Thymus
23	chr12:121561800-121562200	Weak transcription	Fetal Thymus	thymus
24	chr12:121561800-121562600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:121561800-121562600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr12:121561800-121562600	Enhancers	A549	lung
27	chr12:121561800-121562600	Enhancers	NH-A	brain
28	chr12:121561800-121562600	Enhancers	NHLF	lung
29	chr12:121561800-121562800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:121561800-121562800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:121561800-121562800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:121561800-121562800	Enhancers	Fetal Heart	heart
33	chr12:121561800-121562800	Enhancers	Hela-S3	cervix
34	chr12:121561800-121562800	Enhancers	HMEC	breast
35	chr12:121561800-121562800	Enhancers	HSMM	muscle
36	chr12:121561800-121562800	Enhancers	HUVEC	blood vessel
37	chr12:121561800-121563000	Enhancers	NHEK	skin

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