Variant report

Variant	rs532993
Chromosome Location	chr12:57867726-57867727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57866650..57869717-chr12:57880833..57883787,3	MCF-7	breast:
2	chr12:57865716..57868147-chr12:57875960..57878891,2	K562	blood:
3	chr12:57856465..57858334-chr12:57867233..57870220,2	MCF-7	breast:
4	chr12:57864629..57868923-chr12:57913251..57916366,4	K562	blood:
5	chr12:57864629..57868317-chr12:57913861..57916135,3	K562	blood:

Variant related genes	Relation type
ENSG00000175197	Chromatin interaction
ENSG00000123329	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000111087	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1669300	1.00[LWK][hapmap]
rs474058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs511225	1.00[LWK][hapmap]
rs527226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs537161	1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs569092	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61935704	1.00[AMR][1000 genomes]
rs775247	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv899117	chr12:57811414-57926472	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	nsv469411	chr12:57844049-57921188	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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	89 gene(s)	inside rSNPs	diseases
10	nsv559032	chr12:57844049-57921188	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
11	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
12	nsv899119	chr12:57851182-57923451	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
13	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
14	nsv559035	chr12:57860972-57870648	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57857000-57868400	Weak transcription	Dnd41	blood
2	chr12:57857000-57869400	Weak transcription	Ovary	ovary
3	chr12:57859600-57870800	Weak transcription	A549	lung
4	chr12:57861000-57868000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:57861200-57868600	Strong transcription	Fetal Thymus	thymus
6	chr12:57861400-57868400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:57861400-57868600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:57861800-57869600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:57862600-57868200	Strong transcription	Thymus	Thymus
10	chr12:57862800-57868400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:57862800-57869400	Genic enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:57862800-57870400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
13	chr12:57863000-57869000	Genic enhancers	Monocytes-CD14+_RO01746	blood
14	chr12:57863200-57869400	Genic enhancers	Primary T cells fromperipheralblood	blood
15	chr12:57863400-57868800	Weak transcription	Lung	lung
16	chr12:57863400-57869000	Weak transcription	Pancreas	Pancrea
17	chr12:57863600-57868000	Weak transcription	K562	blood
18	chr12:57864000-57867800	Genic enhancers	Primary B cells from cord blood	blood
19	chr12:57864000-57869400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:57864200-57868000	Strong transcription	Primary hematopoietic stem cells	blood
21	chr12:57864200-57868600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr12:57864200-57869200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
23	chr12:57864600-57868600	Weak transcription	Liver	Liver
24	chr12:57864600-57869000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr12:57864600-57869200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr12:57864800-57868000	Strong transcription	GM12878-XiMat	blood
27	chr12:57864800-57869400	Weak transcription	Gastric	stomach
28	chr12:57864800-57869600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:57865200-57869400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr12:57865600-57869200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr12:57865600-57869600	Genic enhancers	Primary B cells from peripheral blood	blood
32	chr12:57865800-57867800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr12:57865800-57868600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:57866000-57869600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:57866200-57869400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:57866200-57869600	Genic enhancers	Primary T cells from cord blood	blood
37	chr12:57866600-57868200	Strong transcription	Spleen	Spleen
38	chr12:57866600-57869000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr12:57867600-57868000	Enhancers	Duodenum Mucosa	Duodenum

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