Variant report

Variant	rs367795812
Chromosome Location	chr12:48212966-48212967
allele	A/C
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 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	chr12:48212890..48213816-chr17:5094659..5095485,2	Hela-S3	cervix:
6	chr12:48185713..48187235-chr12:48211636..48214598,2	K562	blood:
7	chr12:48166096..48168794-chr12:48212793..48215345,3	K562	blood:
8	chr12:48144391..48147829-chr12:48212557..48216683,4	MCF-7	breast:
9	chr12:48212786..48214418-chr16:73090637..73093148,2	MCF-7	breast:
10	chr12:48165941..48169073-chr12:48212869..48214658,5	MCF-7	breast:
11	chr12:48098678..48101690-chr12:48212441..48216325,5	MCF-7	breast:
12	chr12:48166096..48168794-chr12:48212793..48215345,4	K562	blood:
13	chr12:48135112..48136657-chr12:48212167..48214385,2	K562	blood:
14	chr12:46662257..46664463-chr12:48212247..48214266,2	MCF-7	breast:
15	chr12:48212892..48213761-chr5:148205735..148206239,2	NB4	blood:
16	chr12:48181077..48183243-chr12:48212679..48214821,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000211584	Chromatin interaction
ENSG00000111424	Chromatin interaction
ENSG00000111405	Chromatin interaction
ENSG00000140836	Chromatin interaction
ENSG00000261879	Chromatin interaction
ENSG00000257433	Chromatin interaction
ENSG00000111371	Chromatin interaction
ENSG00000180626	Chromatin interaction
ENSG00000079337	Chromatin interaction
ENSG00000061273	Chromatin interaction
ENSG00000005175	Chromatin interaction
ENSG00000169252	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	chr12:48210600-48213000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr12:48210600-48213000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr12:48210600-48213000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr12:48210600-48213000	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr12:48210600-48213000	Flanking Active TSS	Rectal Smooth Muscle	rectum
9	chr12:48210600-48213000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr12:48210600-48213000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr12:48210600-48213200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:48210600-48213400	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr12:48210600-48213400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:48210800-48213000	Flanking Active TSS	HMEC	breast
15	chr12:48210800-48213200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:48210800-48213200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:48210800-48213200	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr12:48211000-48213200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:48211200-48213000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:48211200-48213000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:48211200-48213200	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr12:48211200-48213200	Flanking Active TSS	Colonic Mucosa	Colon
23	chr12:48211400-48213000	Transcr. at gene 5' and 3'	NHLF	lung
24	chr12:48211400-48213200	Enhancers	Fetal Brain Male	brain
25	chr12:48211600-48213000	Flanking Active TSS	GM12878-XiMat	blood
26	chr12:48211600-48214400	Active TSS	Aorta	Aorta
27	chr12:48211600-48214600	Active TSS	Psoas Muscle	Psoas
28	chr12:48211800-48213000	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr12:48212000-48213000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr12:48212000-48213000	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr12:48212000-48213000	Flanking Active TSS	Placenta	Placenta
32	chr12:48212000-48214800	Active TSS	H9 Cell Line	embryonic stem cell
33	chr12:48212200-48213000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:48212200-48213000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:48212200-48213000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr12:48212200-48213000	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr12:48212200-48213000	Flanking Active TSS	Brain Angular Gyrus	brain
38	chr12:48212200-48213000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
39	chr12:48212200-48213000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
40	chr12:48212200-48213200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:48212200-48213200	Flanking Active TSS	Fetal Brain Female	brain
42	chr12:48212200-48214200	Active TSS	Fetal Kidney	kidney
43	chr12:48212200-48214200	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr12:48212200-48214400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:48212200-48214400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:48212200-48214400	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr12:48212200-48214400	Active TSS	Small Intestine	intestine
48	chr12:48212200-48214600	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr12:48212200-48214600	Active TSS	Esophagus	oesophagus
50	chr12:48212200-48214600	Active TSS	Right Atrium	heart

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