Variant report

Variant	rs6692547
Chromosome Location	chr1:76542765-76542766
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76540930..76543846-chr1:76546687..76549468,2	K562	blood:
2	chr1:76532586..76534644-chr1:76541569..76543185,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1146660	0.94[CEU][hapmap];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1146664	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1146665	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11585383	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251464	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1251465	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1251577	0.94[CEU][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1251578	0.94[CEU][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1335740	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17660501	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17660531	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2043799	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55811448	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56320696	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61771321	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535776	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7545733	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[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	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv870968	chr1:76490234-76552475	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv871862	chr1:76525783-76598209	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76540000-76543000	Active TSS	Psoas Muscle	Psoas
2	chr1:76540600-76542800	Active TSS	Left Ventricle	heart
3	chr1:76541000-76546600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:76541200-76546600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:76541200-76551200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:76541400-76545400	Weak transcription	Lung	lung
7	chr1:76541600-76542800	Enhancers	Fetal Brain Male	brain
8	chr1:76541600-76543000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:76541600-76545400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:76541600-76545400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:76541600-76548000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:76541600-76550000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:76541800-76545200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:76541800-76545200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:76541800-76546200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:76541800-76547400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:76542000-76542800	Enhancers	Fetal Stomach	stomach
18	chr1:76542000-76545600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:76542000-76547400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:76542200-76542800	Enhancers	Primary B cells from cord blood	blood
21	chr1:76542200-76542800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:76542200-76542800	Enhancers	Adipose Nuclei	Adipose
23	chr1:76542200-76542800	Enhancers	Brain Angular Gyrus	brain
24	chr1:76542200-76542800	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr1:76542200-76543200	Enhancers	Brain Anterior Caudate	brain
26	chr1:76542200-76543400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:76542200-76543600	Enhancers	Brain Cingulate Gyrus	brain
28	chr1:76542200-76544200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:76542200-76544200	Enhancers	Brain Substantia Nigra	brain
30	chr1:76542200-76545200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:76542200-76545400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:76542200-76545800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:76542200-76546200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:76542200-76546400	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:76542200-76546400	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:76542200-76546600	Weak transcription	Fetal Brain Female	brain
37	chr1:76542200-76553200	Weak transcription	Fetal Intestine Large	intestine
38	chr1:76542400-76542800	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr1:76542400-76543000	Enhancers	HUVEC	blood vessel
40	chr1:76542400-76543200	Enhancers	Brain Hippocampus Middle	brain
41	chr1:76542400-76545400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr1:76542400-76545800	Weak transcription	Fetal Lung	lung
43	chr1:76542400-76546200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:76542400-76546400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr1:76542400-76550000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr1:76542600-76542800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links