Variant report

Variant	rs180730186
Chromosome Location	chr12:48212583-48212584
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48165387..48167380-chr12:48211794..48213722,3	MCF-7	breast:
2	chr12:48211668..48213938-chr12:48298192..48300037,2	MCF-7	breast:
3	chr12:48118580..48122371-chr12:48212442..48215354,3	MCF-7	breast:
4	chr12:48185713..48187235-chr12:48211636..48214598,2	K562	blood:
5	chr12:48144391..48147829-chr12:48212557..48216683,4	MCF-7	breast:
6	chr12:48098678..48101690-chr12:48212441..48216325,5	MCF-7	breast:
7	chr12:48135112..48136657-chr12:48212167..48214385,2	K562	blood:
8	chr12:48186144..48189155-chr12:48210267..48212702,3	MCF-7	breast:
9	chr12:46662257..46664463-chr12:48212247..48214266,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000005175	Chromatin interaction
ENSG00000111405	Chromatin interaction
ENSG00000111371	Chromatin interaction
ENSG00000111424	Chromatin interaction
ENSG00000061273	Chromatin interaction
ENSG00000211584	Chromatin interaction
ENSG00000079337	Chromatin interaction
ENSG00000257433	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
5	nsv899059	chr12:48129344-48215180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	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
7	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
8	esv3693398	chr12:48186738-48215749	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	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
10	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
11	esv3404223	chr12:48212210-48215058	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	50 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48209800-48212600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
2	chr12:48210000-48212600	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr12:48210000-48212600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr12:48210000-48212600	Transcr. at gene 5' and 3'	Thymus	Thymus
5	chr12:48210000-48213200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:48210200-48212600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:48210200-48212600	Transcr. at gene 5' and 3'	Hela-S3	cervix
8	chr12:48210200-48213000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:48210200-48213200	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr12:48210400-48212600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:48210600-48212600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:48210600-48212600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr12:48210600-48212600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr12:48210600-48212600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr12:48210600-48212600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:48210600-48212600	Flanking Active TSS	Left Ventricle	heart
17	chr12:48210600-48212800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:48210600-48212800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr12:48210600-48212800	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr12:48210600-48212800	Flanking Active TSS	NH-A	brain
21	chr12:48210600-48213000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr12:48210600-48213000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr12:48210600-48213000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr12:48210600-48213000	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr12:48210600-48213000	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr12:48210600-48213000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr12:48210600-48213000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr12:48210600-48213200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:48210600-48213400	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr12:48210600-48213400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:48210800-48212600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:48210800-48212600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr12:48210800-48212800	Enhancers	Stomach Mucosa	stomach
34	chr12:48210800-48212800	Flanking Active TSS	Osteobl	bone
35	chr12:48210800-48213000	Flanking Active TSS	HMEC	breast
36	chr12:48210800-48213200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:48210800-48213200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:48210800-48213200	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr12:48211000-48213200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:48211200-48212600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
41	chr12:48211200-48212600	Transcr. at gene 5' and 3'	NHEK	skin
42	chr12:48211200-48213000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:48211200-48213000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:48211200-48213200	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr12:48211200-48213200	Flanking Active TSS	Colonic Mucosa	Colon
46	chr12:48211400-48212600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
47	chr12:48211400-48213000	Transcr. at gene 5' and 3'	NHLF	lung
48	chr12:48211400-48213200	Enhancers	Fetal Brain Male	brain
49	chr12:48211600-48213000	Flanking Active TSS	GM12878-XiMat	blood
50	chr12:48211600-48214400	Active TSS	Aorta	Aorta

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