Variant report

Variant	rs12721361
Chromosome Location	chr12:48224132-48224133
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr12:48223989-48224171	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48165108..48167332-chr12:48223649..48225328,2	MCF-7	breast:
2	chr12:48098907..48100853-chr12:48223145..48224856,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257488	TF binding region
ENSG00000257433	Chromatin interaction
ENSG00000211584	Chromatin interaction
ENSG00000005175	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs61917746	1.00[ASN][1000 genomes]
rs73105873	1.00[AMR][1000 genomes]
rs73107964	1.00[ASN][1000 genomes]
rs73107974	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74086501	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
2	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
3	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
4	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	nsv899060	chr12:48180508-48231430	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv1048466	chr12:48195350-48262541	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv541488	chr12:48195350-48262541	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48214400-48226400	Enhancers	Primary T cells fromperipheralblood	blood
2	chr12:48215000-48224600	Enhancers	Primary T cells from cord blood	blood
3	chr12:48215000-48224800	Enhancers	Fetal Muscle Leg	muscle
4	chr12:48215200-48224800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:48215800-48224200	Enhancers	NHDF-Ad	bronchial
6	chr12:48217000-48226200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr12:48218200-48225800	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr12:48218400-48225800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:48218600-48224800	Enhancers	Thymus	Thymus
10	chr12:48218600-48226400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:48218800-48226400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:48218800-48229000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr12:48219000-48228800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:48220000-48226200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:48220800-48226800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr12:48221800-48224200	Enhancers	Spleen	Spleen
17	chr12:48221800-48224400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:48221800-48224400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr12:48221800-48224400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr12:48221800-48224600	Enhancers	Left Ventricle	heart
21	chr12:48221800-48226800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr12:48222000-48224200	Enhancers	HMEC	breast
23	chr12:48222000-48224400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:48222000-48224600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:48222000-48224600	Enhancers	Right Ventricle	heart
26	chr12:48222200-48224200	Enhancers	Psoas Muscle	Psoas
27	chr12:48222200-48224600	Enhancers	Esophagus	oesophagus
28	chr12:48222200-48229800	Enhancers	Primary B cells from cord blood	blood
29	chr12:48222400-48224200	Enhancers	Brain Anterior Caudate	brain
30	chr12:48223000-48225600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr12:48223200-48224200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:48223200-48224200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr12:48223200-48226400	Weak transcription	HSMM	muscle
34	chr12:48223200-48228200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:48223200-48228600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:48223200-48229200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:48223400-48224200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:48223400-48224200	Enhancers	Duodenum Mucosa	Duodenum
39	chr12:48223400-48224400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:48223400-48225200	Weak transcription	GM12878-XiMat	blood
41	chr12:48223400-48225800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr12:48223400-48225800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:48223400-48226000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:48223400-48226000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:48223400-48228000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:48223400-48229800	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr12:48223400-48232200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:48223400-48236800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:48223400-48237000	Weak transcription	Colonic Mucosa	Colon
50	chr12:48223600-48224200	Enhancers	Fetal Thymus	thymus

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