Variant report

Variant	rs1148552
Chromosome Location	chr12:57942972-57942973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57938950..57942640-chr12:57942750..57946701,7	K562	blood:
2	chr12:57941183..57943777-chr12:57985208..57987088,2	K562	blood:
3	chr12:57940172..57943060-chr12:58144511..58146770,2	K562	blood:
4	chr12:57926877..57929356-chr12:57942157..57944626,2	MCF-7	breast:
5	chr12:57939429..57943777-chr12:57984797..57987088,3	K562	blood:
6	chr12:57941453..57943242-chr12:58011783..58014588,2	MCF-7	breast:
7	chr12:57942322..57945252-chr12:57983891..57986391,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175203	Chromatin interaction
ENSG00000135502	Chromatin interaction
ENSG00000224713	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000166908	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1148555	0.81[LWK][hapmap]
rs1148556	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11830874	1.00[GIH][hapmap]
rs1669296	0.88[LWK][hapmap];0.97[MKK][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs1669297	0.84[AFR][1000 genomes]
rs2600003	0.85[GIH][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs2620678	0.90[EUR][1000 genomes]
rs6581146	1.00[CEU][hapmap];0.85[GIH][hapmap];0.88[TSI][hapmap];0.95[EUR][1000 genomes]
rs697221	0.80[LWK][hapmap];0.97[MKK][hapmap]
rs703837	0.97[MKK][hapmap]
rs703838	0.84[AFR][1000 genomes]
rs703841	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs775236	0.84[AFR][1000 genomes]
rs775237	0.84[AFR][1000 genomes]
rs775241	0.97[MKK][hapmap]
rs7973381	1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
2	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv559033	chr12:57848639-57946477	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
8	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
9	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
10	nsv1053930	chr12:57921188-57969659	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57941000-57943200	Weak transcription	Gastric	stomach
2	chr12:57941200-57943000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:57941200-57943200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:57941200-57943800	Weak transcription	Pancreas	Pancrea
5	chr12:57941400-57943000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:57941400-57943000	Weak transcription	Brain Anterior Caudate	brain
7	chr12:57941400-57943000	Weak transcription	Brain Germinal Matrix	brain
8	chr12:57941400-57943000	Weak transcription	Fetal Brain Male	brain
9	chr12:57941400-57943000	Weak transcription	Fetal Brain Female	brain
10	chr12:57941400-57943200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:57941400-57943200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:57941400-57943200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:57941400-57943200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:57941400-57943200	Weak transcription	Brain Substantia Nigra	brain
15	chr12:57941400-57943400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:57941400-57943400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:57941400-57943400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:57941600-57943000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:57941600-57943000	Weak transcription	Brain Angular Gyrus	brain
20	chr12:57941600-57943000	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:57941600-57943200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:57941600-57943400	Weak transcription	Aorta	Aorta
23	chr12:57941600-57943400	Weak transcription	HMEC	breast
24	chr12:57941800-57943000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:57941800-57943200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr12:57941800-57943200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:57941800-57943200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:57941800-57943400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:57942200-57943200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr12:57942400-57943200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:57942400-57943400	Bivalent Enhancer	GM12878-XiMat	blood
32	chr12:57942400-57943600	Flanking Active TSS	K562	blood
33	chr12:57942600-57943000	Bivalent Enhancer	HepG2	liver
34	chr12:57942600-57943200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
35	chr12:57942600-57943400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:57942800-57943200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
37	chr12:57942800-57943200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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