Variant report

Variant	rs7579554
Chromosome Location	chr2:189183201-189183202
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189176846..189180605-chr2:189180936..189184581,4	K562	blood:
2	chr2:189157067..189161608-chr2:189179360..189183934,6	K562	blood:
3	chr2:189182622..189184644-chr2:189189029..189191672,2	K562	blood:
4	chr2:189181542..189183620-chr2:189198410..189201258,2	K562	blood:

Variant related genes	Relation type
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10168305	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175838	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179504	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10179836	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179899	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10180000	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184703	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187646	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187791	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189197	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189416	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10195059	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10199261	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199264	0.87[AFR][1000 genomes]
rs10204144	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209424	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469734	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469735	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931333	0.82[EUR][1000 genomes]
rs12151691	0.88[AFR][1000 genomes]
rs12329399	0.84[AFR][1000 genomes]
rs12693490	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12693491	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693492	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693493	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693494	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693495	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693497	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987018	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987553	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12995107	0.82[EUR][1000 genomes]
rs12995727	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13000379	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003679	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003972	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13007721	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021294	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027220	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13029662	0.82[EUR][1000 genomes]
rs13032231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13382200	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385282	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13388723	0.90[AFR][1000 genomes]
rs13388746	0.82[AFR][1000 genomes]
rs13390401	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13390524	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394232	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394422	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13403228	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13404958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412312	0.87[AFR][1000 genomes]
rs13413164	1.00[ASN][1000 genomes]
rs13429075	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2004888	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572636	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34000922	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34066981	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34135749	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34140900	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34142137	0.82[EUR][1000 genomes]
rs34353529	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34358898	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34395949	0.80[EUR][1000 genomes]
rs34484855	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34555222	0.82[EUR][1000 genomes]
rs34557812	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34575499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34583514	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34762706	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34762794	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35015018	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35060323	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35196443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35325130	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35355034	0.82[EUR][1000 genomes]
rs35442646	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35536225	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35699394	0.80[EUR][1000 genomes]
rs35877064	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36174757	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3889818	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3924673	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4128404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4349309	0.84[AFR][1000 genomes]
rs4433962	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4522565	0.82[AFR][1000 genomes]
rs4535011	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666757	0.82[EUR][1000 genomes]
rs4667219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4992742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4992743	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55852512	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6434277	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66948063	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66993342	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67086516	0.90[AFR][1000 genomes]
rs67092191	0.90[AFR][1000 genomes]
rs6718697	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720002	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720983	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67344766	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67389016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748077	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67621133	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67798410	0.81[AFR][1000 genomes]
rs67804812	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901602	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72907672	0.82[AFR][1000 genomes]
rs72909512	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72909520	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72911423	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7571197	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571494	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593232	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9288152	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288153	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808523	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808557	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv431890	chr2:189175905-189202876	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1010330	chr2:189182307-189265614	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189169400-189187200	Weak transcription	NHLF	lung
2	chr2:189178400-189191400	Weak transcription	Fetal Lung	lung
3	chr2:189179400-189187600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:189179800-189187400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:189180400-189187400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:189181600-189185000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:189181800-189187400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:189182000-189184400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:189182000-189187000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:189182000-189191400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:189182000-189192200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:189182600-189183400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:189182600-189183600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:189182600-189183600	Enhancers	NHDF-Ad	bronchial
15	chr2:189182600-189183800	Enhancers	Osteobl	bone
16	chr2:189182600-189185800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:189183000-189183400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:189183000-189183400	Enhancers	Stomach Mucosa	stomach
19	chr2:189183000-189183400	Enhancers	NH-A	brain
20	chr2:189183000-189183800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:189183000-189187200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:189183000-189196000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:189183200-189183400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:189183200-189183400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:189183200-189183400	Flanking Active TSS	HUVEC	blood vessel
26	chr2:189183200-189183600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:189183200-189183600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:189183200-189183600	Enhancers	Gastric	stomach
29	chr2:189183200-189183800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:189183200-189183800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:189183200-189183800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:189183200-189183800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:189183200-189183800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:189183200-189183800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:189183200-189183800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:189183200-189183800	Enhancers	Ovary	ovary
37	chr2:189183200-189184000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:189183200-189184000	Enhancers	Pancreas	Pancrea
39	chr2:189183200-189185000	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links