Variant report

Variant	rs73784511
Chromosome Location	chr5:127441035-127441036
allele	A/C/G/T
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	SPI1	chr5:127440965-127441278	GM12878	blood:	n/a	n/a
2	SPI1	chr5:127440990-127441298	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127435818..127437710-chr5:127440981..127443609,2	K562	blood:

Variant related genes	Relation type
KDELC1P1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10036170	1.00[AMR][1000 genomes]
rs10055519	1.00[AMR][1000 genomes]
rs10064377	1.00[AMR][1000 genomes]
rs10065431	1.00[AMR][1000 genomes]
rs10519975	1.00[AMR][1000 genomes]
rs17164277	1.00[AMR][1000 genomes]
rs17164360	1.00[AMR][1000 genomes]
rs6860829	1.00[AMR][1000 genomes]
rs6868281	1.00[AMR][1000 genomes]
rs6882728	1.00[AMR][1000 genomes]
rs73784516	1.00[AMR][1000 genomes]
rs9327470	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	nsv4993	chr5:127405214-127445622	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv1825644	chr5:127427533-127450581	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127421400-127450200	Weak transcription	Fetal Thymus	thymus
2	chr5:127421600-127466800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:127423600-127444800	Weak transcription	Fetal Stomach	stomach
4	chr5:127423600-127494000	Weak transcription	K562	blood
5	chr5:127425800-127445000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:127432400-127454600	Weak transcription	Fetal Kidney	kidney
7	chr5:127434400-127449000	Weak transcription	Dnd41	blood
8	chr5:127434600-127444000	Weak transcription	Fetal Intestine Large	intestine
9	chr5:127434800-127445400	Weak transcription	Primary T cells from cord blood	blood
10	chr5:127434800-127450600	Weak transcription	Fetal Intestine Small	intestine
11	chr5:127435000-127445800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:127435000-127447600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:127435000-127447600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:127435000-127448600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:127435000-127448600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:127435000-127449600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr5:127435200-127450400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:127435200-127450800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:127435600-127445600	Weak transcription	Primary B cells from cord blood	blood
20	chr5:127435600-127449400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:127436000-127443200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:127436800-127445000	Weak transcription	Left Ventricle	heart
23	chr5:127437000-127449800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr5:127437200-127449800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:127437400-127446000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:127437600-127445000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr5:127437600-127447600	Weak transcription	Brain Anterior Caudate	brain
28	chr5:127437600-127447600	Weak transcription	NH-A	brain
29	chr5:127437800-127442400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:127437800-127451600	Weak transcription	HMEC	breast
31	chr5:127438000-127450600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:127438400-127450200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr5:127439200-127445000	Weak transcription	Psoas Muscle	Psoas
34	chr5:127439400-127445200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr5:127439400-127447600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:127439400-127450400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr5:127440200-127445000	Weak transcription	Small Intestine	intestine
38	chr5:127440800-127441800	Enhancers	Brain Angular Gyrus	brain
39	chr5:127440800-127441800	Enhancers	Colon Smooth Muscle	Colon
40	chr5:127441000-127441200	Enhancers	Aorta	Aorta
41	chr5:127441000-127441200	Enhancers	Colonic Mucosa	Colon
42	chr5:127441000-127441200	Enhancers	Gastric	stomach
43	chr5:127441000-127441400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr5:127441000-127441400	Enhancers	Brain Substantia Nigra	brain
45	chr5:127441000-127441400	Enhancers	Duodenum Mucosa	Duodenum
46	chr5:127441000-127441400	Enhancers	Fetal Heart	heart
47	chr5:127441000-127441400	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr5:127441000-127441400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr5:127441000-127441400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr5:127441000-127441400	Enhancers	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links