Variant report

Variant	rs4233800
Chromosome Location	chr2:189181595-189181596
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	chr2:189157067..189159474-chr2:189179752..189181844,2	K562	blood:
4	chr2:189181542..189183620-chr2:189198410..189201258,2	K562	blood:

Variant related genes	Relation type
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10460383	0.88[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10931347	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931350	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11687797	0.87[ASN][1000 genomes]
rs11688935	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11901438	0.87[ASN][1000 genomes]
rs12105671	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12613370	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12613686	0.87[ASN][1000 genomes]
rs12619948	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12693496	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13014162	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4278900	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4292061	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4353610	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4353611	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4446047	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4505490	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55901476	0.87[ASN][1000 genomes]
rs62179648	0.87[ASN][1000 genomes]
rs62179650	0.87[ASN][1000 genomes]
rs6434274	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434275	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434276	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434279	0.88[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6711599	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6716852	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6723034	1.00[JPT][hapmap]
rs6727073	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905541	0.91[ASN][1000 genomes]
rs72905544	0.91[ASN][1000 genomes]
rs72905553	0.91[ASN][1000 genomes]
rs72905582	1.00[ASN][1000 genomes]
rs72905599	1.00[ASN][1000 genomes]
rs72907662	0.91[ASN][1000 genomes]
rs7419883	0.85[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7424417	1.00[JPT][hapmap]
rs7557622	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7559636	0.88[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7575702	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577484	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585851	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[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	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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189168200-189183200	Weak transcription	Ovary	ovary
2	chr2:189168800-189183200	Weak transcription	A549	lung
3	chr2:189169400-189187200	Weak transcription	NHLF	lung
4	chr2:189170600-189183200	Weak transcription	Gastric	stomach
5	chr2:189172800-189182600	Weak transcription	NHDF-Ad	bronchial
6	chr2:189178400-189182200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:189178400-189191400	Weak transcription	Fetal Lung	lung
8	chr2:189178600-189182000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:189178800-189182000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:189178800-189182200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:189179000-189182000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:189179000-189182000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:189179000-189183000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:189179400-189181800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:189179400-189183200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:189179400-189187600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:189179600-189182600	Weak transcription	Osteobl	bone
18	chr2:189179800-189181600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:189179800-189183200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:189179800-189187400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:189180000-189182000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:189180000-189182000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:189180000-189183000	Weak transcription	NH-A	brain
24	chr2:189180400-189187400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:189181000-189181800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:189181000-189183200	Enhancers	HUVEC	blood vessel
27	chr2:189181200-189182000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:189181200-189182000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:189181400-189181800	Weak transcription	H1 Cell Line	embryonic stem cell

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