Variant report

Variant	rs12567232
Chromosome Location	chr1:67728018-67728019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10489628	0.86[ASN][1000 genomes]
rs10889673	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10889674	0.96[ASN][1000 genomes]
rs10889676	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10889677	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11465802	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12030107	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12030948	0.92[ASN][1000 genomes]
rs12031203	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12743974	0.96[ASN][1000 genomes]
rs1343152	0.93[ASN][1000 genomes]
rs2180294	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2201841	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35380856	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35427944	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4655529	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6665959	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6686950	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1243	chr1:67700289-67745337	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Crohn's disease	17804789	GWAS catalog

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67723200-67738200	Weak transcription	K562	blood
2	chr1:67726000-67728600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:67726200-67729400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr1:67726400-67728600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr1:67727200-67728400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr1:67727200-67728600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr1:67727200-67729000	Enhancers	Primary T cells from cord blood	blood
8	chr1:67727200-67730400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:67727400-67728400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:67727400-67728600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr1:67727400-67728800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:67727400-67731600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:67727600-67728200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:67727600-67728200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:67727600-67728200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:67727600-67728400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:67727600-67728400	Enhancers	Fetal Thymus	thymus
18	chr1:67727600-67728400	Enhancers	Thymus	Thymus
19	chr1:67727600-67728600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr1:67727600-67728600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:67727600-67728600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr1:67727600-67728600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr1:67727600-67729000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:67727600-67729800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr1:67727600-67730200	Enhancers	Primary hematopoietic stem cells	blood
26	chr1:67727600-67730600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:67727800-67729600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:67727800-67730000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:67727800-67730600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr1:67728000-67728200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:67728000-67730000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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