Variant report

Variant	rs2973597
Chromosome Location	chr5:126162420-126162421
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126161556..126164449-chr5:126182643..126185474,2	K562	blood:
2	chr5:126161734..126163742-chr5:126364230..126367196,3	K562	blood:
3	chr5:126159319..126160839-chr5:126161011..126162528,2	K562	blood:

Variant related genes	Relation type
ENSG00000173926	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1051644	0.81[ASN][1000 genomes]
rs2973598	0.84[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	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126130400-126165800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:126136000-126175200	Strong transcription	Dnd41	blood
3	chr5:126137600-126166600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:126139800-126175400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:126140000-126175200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:126140000-126175400	Strong transcription	Fetal Thymus	thymus
7	chr5:126140200-126162600	Weak transcription	Colonic Mucosa	Colon
8	chr5:126140200-126163400	Weak transcription	Pancreas	Pancrea
9	chr5:126141000-126177400	Weak transcription	Small Intestine	intestine
10	chr5:126141200-126181800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:126141400-126174200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:126141600-126167400	Weak transcription	Brain Substantia Nigra	brain
13	chr5:126144400-126173200	Weak transcription	Esophagus	oesophagus
14	chr5:126146000-126183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr5:126146000-126183600	Weak transcription	Left Ventricle	heart
16	chr5:126147600-126167600	Strong transcription	GM12878-XiMat	blood
17	chr5:126147800-126165600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:126147800-126170400	Weak transcription	Stomach Mucosa	stomach
19	chr5:126147800-126171600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:126148200-126182400	Weak transcription	HSMMtube	muscle
21	chr5:126148200-126193200	Weak transcription	Brain Angular Gyrus	brain
22	chr5:126149200-126170000	Weak transcription	Aorta	Aorta
23	chr5:126149600-126181400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr5:126151200-126162600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:126151200-126163200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:126151200-126175200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:126151200-126175400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:126151400-126181400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:126151600-126166600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr5:126151800-126175200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr5:126152000-126172400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:126152200-126171200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr5:126152200-126173800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:126152200-126175200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr5:126152800-126167000	Weak transcription	Psoas Muscle	Psoas
36	chr5:126153000-126162600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:126153400-126166600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:126153600-126164200	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:126153600-126175400	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr5:126154200-126166200	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:126154600-126165600	Strong transcription	Brain Germinal Matrix	brain
42	chr5:126155800-126171200	Strong transcription	K562	blood
43	chr5:126156000-126164400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr5:126156000-126166200	Strong transcription	Primary hematopoietic stem cells	blood
45	chr5:126156400-126171800	Strong transcription	Fetal Brain Female	brain
46	chr5:126156600-126166000	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr5:126157200-126171000	Strong transcription	Primary T cells from cord blood	blood
48	chr5:126157400-126167800	Strong transcription	Hela-S3	cervix
49	chr5:126157600-126165400	Strong transcription	Primary B cells from cord blood	blood
50	chr5:126158000-126162600	Weak transcription	Fetal Intestine Small	intestine

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