Variant report

Variant	rs7551723
Chromosome Location	chr1:79728598-79728599
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	chr1:79728080..79730865-chr1:79731789..79734341,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs11162676	0.93[ASN][1000 genomes]
rs11162677	0.93[ASN][1000 genomes]
rs12064196	0.93[ASN][1000 genomes]
rs12093328	0.93[ASN][1000 genomes]
rs12401629	0.93[ASN][1000 genomes]
rs1331717	0.93[ASN][1000 genomes]
rs170611	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs170614	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17102981	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs172926	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs183458	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs228466	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs228467	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs228468	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs228469	0.85[AMR][1000 genomes]
rs228470	0.85[AMR][1000 genomes]
rs228473	0.85[AMR][1000 genomes]
rs228474	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs228475	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs228476	0.82[AMR][1000 genomes]
rs228477	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs228478	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs228479	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs228480	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs228482	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs228483	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs228484	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs228485	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs228486	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs228487	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs228489	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs228494	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs228495	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs228496	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs228499	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs228500	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs228502	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs228506	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs228508	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs228510	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs228511	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs228512	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs228514	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs228515	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs228516	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs228517	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs228518	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs228519	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs228522	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs228523	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs228534	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs228535	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs228537	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs228541	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs228542	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35764284	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs393486	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs417181	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs427551	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs428585	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4650312	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4650316	0.93[ASN][1000 genomes]
rs61766097	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6424643	0.85[AMR][1000 genomes]
rs6424645	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6681555	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6697527	0.83[AMR][1000 genomes]
rs7520891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7553133	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv830326	chr1:79573379-79735667	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv871182	chr1:79614989-79822735	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv999471	chr1:79650363-79774433	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv870657	chr1:79701220-79890774	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3416535	chr1:79728558-79729104	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79726000-79728600	Weak transcription	Fetal Stomach	stomach
2	chr1:79726000-79730000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:79726200-79729000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr1:79726600-79729600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:79727400-79728800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:79727600-79728800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:79727600-79729000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:79727800-79728800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:79728000-79729000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:79728000-79729000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:79728000-79729200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr1:79728000-79729400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr1:79728200-79728600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:79728200-79728800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr1:79728200-79729000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr1:79728200-79729000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr1:79728200-79729400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr1:79728400-79728600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:79728400-79728600	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr1:79728400-79728600	Enhancers	Rectal Smooth Muscle	rectum
21	chr1:79728400-79728800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:79728400-79729000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:79728400-79729000	Enhancers	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links