Variant report

Variant	rs186162057
Chromosome Location	chr12:48212737-48212738
allele	A/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 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	chr12:48180097..48182896-chr12:48212671..48214919,5	MCF-7	breast:
4	chr12:48118580..48122371-chr12:48212442..48215354,3	MCF-7	breast:
5	chr12:48185713..48187235-chr12:48211636..48214598,2	K562	blood:
6	chr12:48144391..48147829-chr12:48212557..48216683,4	MCF-7	breast:
7	chr12:48098678..48101690-chr12:48212441..48216325,5	MCF-7	breast:
8	chr12:48135112..48136657-chr12:48212167..48214385,2	K562	blood:
9	chr12:46662257..46664463-chr12:48212247..48214266,2	MCF-7	breast:
10	chr12:48181077..48183243-chr12:48212679..48214821,2	K562	blood:

No data

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

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

Variant overlapped rSNPs/rCNVs (count:12 , 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
12	esv3357843	chr12:48212735-48214833	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	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	chr12:48210000-48213200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:48210200-48213000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:48210200-48213200	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr12:48210600-48212800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:48210600-48212800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
6	chr12:48210600-48212800	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr12:48210600-48212800	Flanking Active TSS	NH-A	brain
8	chr12:48210600-48213000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr12:48210600-48213000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr12:48210600-48213000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr12:48210600-48213000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr12:48210600-48213000	Flanking Active TSS	Rectal Smooth Muscle	rectum
13	chr12:48210600-48213000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr12:48210600-48213000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr12:48210600-48213200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:48210600-48213400	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr12:48210600-48213400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:48210800-48212800	Enhancers	Stomach Mucosa	stomach
19	chr12:48210800-48212800	Flanking Active TSS	Osteobl	bone
20	chr12:48210800-48213000	Flanking Active TSS	HMEC	breast
21	chr12:48210800-48213200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:48210800-48213200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:48210800-48213200	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr12:48211000-48213200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:48211200-48213000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:48211200-48213000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:48211200-48213200	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr12:48211200-48213200	Flanking Active TSS	Colonic Mucosa	Colon
29	chr12:48211400-48213000	Transcr. at gene 5' and 3'	NHLF	lung
30	chr12:48211400-48213200	Enhancers	Fetal Brain Male	brain
31	chr12:48211600-48213000	Flanking Active TSS	GM12878-XiMat	blood
32	chr12:48211600-48214400	Active TSS	Aorta	Aorta
33	chr12:48211600-48214600	Active TSS	Psoas Muscle	Psoas
34	chr12:48211800-48212800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr12:48211800-48212800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr12:48211800-48212800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:48211800-48212800	Transcr. at gene 5' and 3'	Right Ventricle	heart
38	chr12:48211800-48213000	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr12:48212000-48213000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr12:48212000-48213000	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr12:48212000-48213000	Flanking Active TSS	Placenta	Placenta
42	chr12:48212000-48214800	Active TSS	H9 Cell Line	embryonic stem cell
43	chr12:48212200-48212800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
44	chr12:48212200-48212800	Flanking Active TSS	Dnd41	blood
45	chr12:48212200-48213000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:48212200-48213000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:48212200-48213000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr12:48212200-48213000	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr12:48212200-48213000	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr12:48212200-48213000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links