Variant report

Variant	rs2972359
Chromosome Location	chr5:68524133-68524134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:68511483..68514231-chr5:68521501..68524879,3	K562	blood:
2	chr5:68523954..68526904-chr5:68529417..68531065,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134058	Chromatin interaction
ENSG00000134056	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10058852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1976102	0.89[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2069429	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2130755	1.00[EUR][1000 genomes]
rs2930947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2930950	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2932779	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2932786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2932791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2932792	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2972383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3101719	1.00[ASN][1000 genomes]
rs6877441	1.00[ASN][1000 genomes]
rs7715704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7716060	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7720249	0.89[ASN][1000 genomes]
rs7726426	1.00[ASW][hapmap]
rs7729799	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7734181	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3378789	chr5:68438275-68540725	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68514200-68530200	Weak transcription	Small Intestine	intestine
2	chr5:68514200-68530200	Weak transcription	Spleen	Spleen
3	chr5:68514400-68530200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:68514400-68530200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:68514400-68530200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:68514400-68530200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:68514400-68530200	Weak transcription	Aorta	Aorta
8	chr5:68514400-68530200	Weak transcription	Esophagus	oesophagus
9	chr5:68514400-68530200	Weak transcription	Gastric	stomach
10	chr5:68514400-68530200	Weak transcription	Pancreas	Pancrea
11	chr5:68514400-68530200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr5:68514800-68524200	Weak transcription	HUVEC	blood vessel
13	chr5:68514800-68530000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:68515000-68524200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:68515000-68530000	Weak transcription	Psoas Muscle	Psoas
16	chr5:68515200-68529800	Weak transcription	Fetal Brain Female	brain
17	chr5:68515200-68529800	Weak transcription	NHLF	lung
18	chr5:68515200-68530000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:68515200-68530000	Weak transcription	Fetal Brain Male	brain
20	chr5:68515200-68530000	Weak transcription	Fetal Kidney	kidney
21	chr5:68515200-68530000	Weak transcription	Fetal Lung	lung
22	chr5:68515400-68526000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:68515400-68529400	Weak transcription	Fetal Heart	heart
24	chr5:68515400-68529800	Weak transcription	Brain Anterior Caudate	brain
25	chr5:68515400-68529800	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:68515400-68529800	Weak transcription	Hela-S3	cervix
27	chr5:68515400-68530000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:68515400-68530000	Weak transcription	Right Ventricle	heart
29	chr5:68515600-68530000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:68515600-68530000	Weak transcription	Brain Substantia Nigra	brain
31	chr5:68515800-68530000	Weak transcription	Brain Angular Gyrus	brain
32	chr5:68516400-68524200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:68518400-68524200	Weak transcription	Primary B cells from cord blood	blood
34	chr5:68520000-68524800	Strong transcription	Fetal Stomach	stomach
35	chr5:68520200-68526400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr5:68520400-68525000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:68520400-68525600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr5:68520400-68526400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr5:68520400-68526600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:68520400-68528200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:68520800-68529800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr5:68520800-68530200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:68521000-68524200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:68521000-68526400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:68521000-68526400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:68521400-68526400	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr5:68521600-68526000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:68521600-68526000	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:68521800-68524800	Strong transcription	Placenta	Placenta
50	chr5:68521800-68524800	Strong transcription	Left Ventricle	heart

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