Variant report

Variant	rs73216225
Chromosome Location	chr5:112040798-112040799
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr5:112039458-112041050	PBDE	blood:	n/a	chr5:112040796-112040813 chr5:112040807-112040814 chr5:112040805-112040814 chr5:112040807-112040814 chr5:112040889-112040906 chr5:112040805-112040815 chr5:112040895-112040911 chr5:112040807-112040814

No.	Distal block	Cell Line	Cell type
1	chr5:112036312..112038935-chr5:112040526..112042912,2	K562	blood:
2	chr5:112038977..112041357-chr5:112041472..112044593,6	K562	blood:
3	chr5:112025912..112028598-chr5:112039922..112042129,2	K562	blood:
4	chr5:112038553..112041521-chr5:112056606..112058817,2	K562	blood:

Variant related genes	Relation type
APC	TF binding region
ENSG00000134982	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1372220	0.82[EUR][1000 genomes]
rs17135067	0.86[EUR][1000 genomes]
rs17285372	1.00[EUR][1000 genomes]
rs17285666	1.00[EUR][1000 genomes]
rs17285827	1.00[EUR][1000 genomes]
rs17286230	1.00[EUR][1000 genomes]
rs17290064	0.86[EUR][1000 genomes]
rs17357294	1.00[EUR][1000 genomes]
rs17359859	0.86[EUR][1000 genomes]
rs17360045	0.86[EUR][1000 genomes]
rs17360289	0.80[EUR][1000 genomes]
rs17369211	0.93[EUR][1000 genomes]
rs17369487	0.93[EUR][1000 genomes]
rs55684649	0.86[EUR][1000 genomes]
rs55771959	0.86[EUR][1000 genomes]
rs55798475	0.93[EUR][1000 genomes]
rs56052440	1.00[EUR][1000 genomes]
rs56194248	0.86[EUR][1000 genomes]
rs56218335	0.86[EUR][1000 genomes]
rs56235416	1.00[EUR][1000 genomes]
rs56320268	0.86[EUR][1000 genomes]
rs56328836	0.86[EUR][1000 genomes]
rs56405915	0.83[AMR][1000 genomes]
rs57043077	0.86[EUR][1000 genomes]
rs57186392	0.90[AFR][1000 genomes]
rs58668778	0.88[AFR][1000 genomes]
rs58929329	0.90[AFR][1000 genomes]
rs60532731	0.91[AMR][1000 genomes]
rs6895431	0.88[AFR][1000 genomes]
rs73214398	0.98[AFR][1000 genomes]
rs73214399	0.90[AFR][1000 genomes]
rs73216208	0.86[AFR][1000 genomes]
rs73216212	0.90[AFR][1000 genomes]
rs73220038	0.86[EUR][1000 genomes]
rs73220063	0.80[EUR][1000 genomes]
rs73791429	0.86[AFR][1000 genomes]
rs7704566	1.00[EUR][1000 genomes]
rs7728137	0.90[AFR][1000 genomes]
rs7728636	0.81[AFR][1000 genomes]
rs7728766	0.86[EUR][1000 genomes]
rs7730944	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112033400-112042600	Weak transcription	Ovary	ovary
2	chr5:112039000-112041000	Enhancers	Right Atrium	heart
3	chr5:112039400-112040800	Enhancers	Fetal Heart	heart
4	chr5:112039400-112041000	Enhancers	Rectal Smooth Muscle	rectum
5	chr5:112039600-112042200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr5:112039600-112042800	Weak transcription	Esophagus	oesophagus
7	chr5:112039800-112042200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:112039800-112042200	Weak transcription	Brain Anterior Caudate	brain
9	chr5:112039800-112042600	Weak transcription	Fetal Stomach	stomach
10	chr5:112040000-112042200	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:112040000-112042400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:112040000-112042400	Weak transcription	Stomach Mucosa	stomach
13	chr5:112040200-112042200	Weak transcription	Dnd41	blood
14	chr5:112040200-112042800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:112040200-112042800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:112040200-112042800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:112040400-112042000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:112040400-112042200	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:112040400-112042200	Enhancers	K562	blood
20	chr5:112040400-112042400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:112040400-112042400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:112040400-112042400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:112040400-112042400	Weak transcription	A549	lung
24	chr5:112040400-112042400	Weak transcription	HMEC	breast
25	chr5:112040400-112042400	Weak transcription	HUVEC	blood vessel
26	chr5:112040400-112042600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:112040400-112042600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:112040400-112042600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:112040400-112042600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:112040400-112042600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:112040400-112042600	Weak transcription	HSMM	muscle
32	chr5:112040400-112042600	Weak transcription	NH-A	brain
33	chr5:112040400-112042600	Weak transcription	NHDF-Ad	bronchial
34	chr5:112040400-112042600	Weak transcription	NHEK	skin
35	chr5:112040400-112042600	Weak transcription	Osteobl	bone
36	chr5:112040400-112042800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:112040400-112042800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:112040400-112042800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:112040400-112042800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:112040400-112042800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr5:112040400-112042800	Weak transcription	Fetal Thymus	thymus
42	chr5:112040400-112042800	Weak transcription	Left Ventricle	heart
43	chr5:112040400-112042800	Weak transcription	HSMMtube	muscle
44	chr5:112040400-112042800	Weak transcription	NHLF	lung
45	chr5:112040600-112042200	Weak transcription	Psoas Muscle	Psoas
46	chr5:112040600-112042400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr5:112040600-112042600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:112040600-112042600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:112040600-112042600	Weak transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links