Variant report

Variant	rs72993308
Chromosome Location	chr3:143494563-143494564
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:143486190..143488488-chr3:143493219..143495749,2	MCF-7	breast:
2	chr3:143492598..143495313-chr3:143689451..143692753,3	MCF-7	breast:
3	chr3:143494312..143494922-chr3:143669977..143670492,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181744	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11915855	1.00[AMR][1000 genomes]
rs16853882	1.00[AMR][1000 genomes]
rs2069163	1.00[AMR][1000 genomes]
rs60313442	1.00[AMR][1000 genomes]
rs73005514	1.00[AMR][1000 genomes]
rs73005545	1.00[AMR][1000 genomes]
rs73007413	1.00[AMR][1000 genomes]
rs73007443	1.00[AMR][1000 genomes]
rs73009492	1.00[AMR][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	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv3418674	chr3:143457005-143558357	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143476600-143500400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:143491000-143495000	Weak transcription	Brain Substantia Nigra	brain
3	chr3:143492400-143513000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:143494000-143494600	Enhancers	Fetal Kidney	kidney
5	chr3:143494000-143494800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr3:143494200-143494600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr3:143494200-143494800	Enhancers	Rectal Smooth Muscle	rectum
8	chr3:143494400-143494600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:143494400-143494600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:143494400-143494600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:143494400-143494600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:143494400-143494600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:143494400-143494600	Active TSS	Brain Hippocampus Middle	brain
14	chr3:143494400-143494600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:143494400-143494600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr3:143494400-143494600	Enhancers	Fetal Muscle Leg	muscle
17	chr3:143494400-143494600	Flanking Active TSS	Dnd41	blood
18	chr3:143494400-143494600	Enhancers	NHLF	lung
19	chr3:143494400-143494800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:143494400-143494800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr3:143494400-143494800	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr3:143494400-143494800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:143494400-143494800	Enhancers	Primary T cells fromperipheralblood	blood
24	chr3:143494400-143494800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr3:143494400-143494800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr3:143494400-143494800	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr3:143494400-143494800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:143494400-143494800	Active TSS	Muscle Satellite Cultured Cells	--
29	chr3:143494400-143494800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:143494400-143494800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:143494400-143494800	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr3:143494400-143494800	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr3:143494400-143494800	Active TSS	Brain Anterior Caudate	brain
34	chr3:143494400-143494800	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr3:143494400-143494800	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr3:143494400-143494800	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr3:143494400-143494800	Active TSS	Fetal Brain Male	brain
38	chr3:143494400-143494800	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr3:143494400-143494800	Flanking Active TSS	Fetal Lung	lung
40	chr3:143494400-143494800	Active TSS	Ovary	ovary
41	chr3:143494400-143494800	Active TSS	Psoas Muscle	Psoas
42	chr3:143494400-143494800	Active TSS	Right Atrium	heart
43	chr3:143494400-143494800	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr3:143494400-143494800	Flanking Active TSS	GM12878-XiMat	blood
45	chr3:143494400-143494800	Enhancers	HSMM	muscle
46	chr3:143494400-143494800	Enhancers	HSMMtube	muscle
47	chr3:143494400-143494800	Enhancers	HUVEC	blood vessel
48	chr3:143494400-143494800	Active TSS	NH-A	brain
49	chr3:143494400-143494800	Enhancers	NHDF-Ad	bronchial
50	chr3:143494400-143494800	Enhancers	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links