Variant report

Variant	rs17839709
Chromosome Location	chr5:126188804-126188805
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126187172..126189769-chr5:126406554..126408895,2	K562	blood:
2	chr5:126188650..126191093-chr5:126200738..126202976,2	K562	blood:
3	chr5:126187035..126188826-chr5:126364717..126367008,2	K562	blood:
4	chr5:126183182..126187392-chr5:126188791..126191287,4	K562	blood:
5	chr5:126188650..126190173-chr5:126200115..126202238,2	K562	blood:
6	chr5:126187764..126191404-chr5:126191529..126194421,4	K562	blood:

Variant related genes	Relation type
ENSG00000173926	Chromatin interaction
ENSG00000164241	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12514978	0.86[AMR][1000 genomes]
rs12517303	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12520218	0.86[AMR][1000 genomes]
rs12522425	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs17839711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2230151	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs34364708	0.86[AMR][1000 genomes]
rs3805737	0.86[AMR][1000 genomes]
rs55637078	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs55784400	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55924928	0.85[AFR][1000 genomes]
rs56052550	0.85[AFR][1000 genomes]
rs58103919	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs58418743	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs61383192	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs72780210	0.84[AMR][1000 genomes]
rs72780212	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs72780215	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs72780216	0.90[AMR][1000 genomes]
rs72780217	0.86[AMR][1000 genomes]
rs72780218	0.86[AMR][1000 genomes]
rs72780220	0.86[AMR][1000 genomes]
rs72780222	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs72780284	0.90[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	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126148200-126193200	Weak transcription	Brain Angular Gyrus	brain
2	chr5:126158000-126204600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:126163800-126193200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:126175200-126189400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:126181800-126189200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr5:126182000-126190800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr5:126182400-126192600	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:126182600-126193000	Weak transcription	Right Ventricle	heart
9	chr5:126183600-126210400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:126183800-126193000	Weak transcription	Fetal Lung	lung
11	chr5:126183800-126193400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:126184400-126190800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:126184400-126193000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:126184400-126193200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:126184400-126193600	Weak transcription	Brain Germinal Matrix	brain
16	chr5:126184600-126193000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr5:126185400-126189400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr5:126185400-126190800	Weak transcription	Stomach Mucosa	stomach
19	chr5:126186200-126189000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:126186200-126189400	Enhancers	Fetal Brain Male	brain
21	chr5:126186400-126189000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr5:126186400-126189000	Enhancers	Fetal Muscle Leg	muscle
23	chr5:126186400-126189200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:126186400-126189400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:126186600-126189000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr5:126186600-126189000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr5:126186600-126189200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr5:126186600-126189200	Enhancers	Fetal Stomach	stomach
29	chr5:126186600-126189200	Enhancers	Fetal Thymus	thymus
30	chr5:126186600-126189400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:126186600-126189400	Enhancers	Right Atrium	heart
32	chr5:126186800-126189000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:126186800-126189800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:126187000-126189000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:126187000-126189200	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr5:126187200-126189200	Enhancers	Primary B cells from peripheral blood	blood
37	chr5:126187200-126189200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:126187400-126189000	Enhancers	HSMMtube	muscle
39	chr5:126187400-126189800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr5:126187400-126189800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:126187600-126192600	Weak transcription	Left Ventricle	heart
42	chr5:126187800-126189400	Enhancers	Primary B cells from cord blood	blood
43	chr5:126187800-126189400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr5:126187800-126190200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr5:126187800-126192800	Weak transcription	Fetal Heart	heart
46	chr5:126188000-126189000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
47	chr5:126188000-126189400	Enhancers	Fetal Brain Female	brain
48	chr5:126188000-126189800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr5:126188000-126193400	Weak transcription	Fetal Kidney	kidney
50	chr5:126188200-126189000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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