Variant report

Variant	rs4759226
Chromosome Location	chr12:56719292-56719293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56718035..56719704-chr12:56720082..56722862,2	MCF-7	breast:
2	chr12:56705654..56712950-chr12:56716015..56720160,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135473	Chromatin interaction
ENSG00000144785	Chromatin interaction
ENSG00000257727	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10747761	1.00[JPT][hapmap]
rs12296387	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12309692	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17118317	1.00[JPT][hapmap]
rs4759016	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56710600-56726800	Weak transcription	NH-A	brain
2	chr12:56710800-56726400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:56710800-56726600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:56711000-56722400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr12:56711000-56722600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:56711000-56722800	Strong transcription	Fetal Muscle Leg	muscle
7	chr12:56711200-56722400	Strong transcription	Fetal Stomach	stomach
8	chr12:56711400-56721400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:56711400-56722600	Strong transcription	Liver	Liver
10	chr12:56711400-56726600	Weak transcription	Fetal Brain Male	brain
11	chr12:56711600-56721800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:56711600-56722600	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:56711600-56722800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:56711800-56722800	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:56712000-56722400	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:56712000-56722600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:56712000-56722600	Strong transcription	Stomach Smooth Muscle	stomach
18	chr12:56712000-56722800	Strong transcription	Fetal Intestine Large	intestine
19	chr12:56712000-56722800	Strong transcription	Placenta	Placenta
20	chr12:56712000-56724000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:56712200-56721400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:56712200-56722400	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr12:56712200-56722600	Strong transcription	Primary B cells from cord blood	blood
24	chr12:56712600-56722400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:56712600-56722600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr12:56712600-56722600	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr12:56712600-56722600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr12:56712600-56722600	Strong transcription	Thymus	Thymus
29	chr12:56712800-56720400	Strong transcription	Left Ventricle	heart
30	chr12:56712800-56721200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:56712800-56722400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:56712800-56722600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr12:56712800-56722600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:56712800-56722600	Strong transcription	Fetal Intestine Small	intestine
35	chr12:56713200-56722600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:56713200-56722600	Strong transcription	Fetal Lung	lung
37	chr12:56713400-56726600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:56715000-56722400	Strong transcription	Brain Germinal Matrix	brain
39	chr12:56715000-56722600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:56715000-56722600	Strong transcription	Ovary	ovary
41	chr12:56715400-56722600	Strong transcription	Fetal Thymus	thymus
42	chr12:56715600-56719600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:56715600-56720000	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr12:56715600-56722000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:56715600-56722000	Strong transcription	Colon Smooth Muscle	Colon
46	chr12:56715600-56722000	Strong transcription	GM12878-XiMat	blood
47	chr12:56715600-56722200	Strong transcription	Brain Hippocampus Middle	brain
48	chr12:56715600-56722200	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:56715600-56722400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr12:56715600-56722400	Strong transcription	Colonic Mucosa	Colon

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