Variant report

Variant	rs2232176
Chromosome Location	chr22:31536133-31536134
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31534966..31537778-chr22:31554685..31557531,2	MCF-7	breast:
2	chr22:31497058..31499268-chr22:31535389..31537818,2	MCF-7	breast:
3	chr22:31522240..31525129-chr22:31533508..31536686,3	K562	blood:
4	chr22:31534039..31536501-chr22:31538813..31541013,2	K562	blood:
5	chr22:31476560..31478859-chr22:31533468..31537086,3	MCF-7	breast:
6	chr22:31521352..31522863-chr22:31533988..31536377,2	MCF-7	breast:
7	chr22:31522608..31525129-chr22:31534842..31536686,3	K562	blood:

Variant related genes	Relation type
ENSG00000264141	Chromatin interaction
ENSG00000185133	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000138942	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1034588	0.85[CEU][hapmap]
rs1034589	0.85[CEU][hapmap]
rs13158	0.85[CEU][hapmap]
rs16989382	0.81[YRI][hapmap]
rs1858821	0.85[CEU][hapmap]
rs2040533	0.90[CEU][hapmap]
rs2073857	0.85[CEU][hapmap]
rs2078803	0.85[CEU][hapmap]
rs2079431	0.85[CEU][hapmap]
rs2106294	0.85[CEU][hapmap]
rs2228619	0.85[CEU][hapmap]
rs2232170	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.86[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2283879	0.85[CEU][hapmap]
rs2413029	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2413033	0.85[CEU][hapmap]
rs2413035	0.85[CEU][hapmap]
rs4141404	0.85[CEU][hapmap]
rs4820042	0.85[CEU][hapmap]
rs4820043	0.85[CEU][hapmap]
rs4820945	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4820946	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4820951	0.85[CEU][hapmap]
rs4820955	0.85[CEU][hapmap]
rs4820963	0.85[CEU][hapmap]
rs5749224	0.85[CEU][hapmap]
rs5749229	0.85[CEU][hapmap]
rs5753483	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5753521	0.85[CEU][hapmap]
rs5753543	0.85[CEU][hapmap]
rs5997913	0.85[CEU][hapmap]
rs715510	0.85[CEU][hapmap]
rs737684	0.85[CEU][hapmap]
rs737887	0.85[CEU][hapmap]
rs737888	0.85[CEU][hapmap]
rs9606830	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2232176	SFI1	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31520400-31538800	Weak transcription	Right Atrium	heart
2	chr22:31524800-31536400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr22:31528200-31536400	Weak transcription	Pancreas	Pancrea
4	chr22:31530400-31538400	Weak transcription	Left Ventricle	heart
5	chr22:31534600-31536600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr22:31534600-31536800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:31535000-31536200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
8	chr22:31535000-31536600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr22:31535200-31536400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:31535200-31536400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr22:31535200-31536400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:31535200-31536600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr22:31535200-31536600	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr22:31535400-31536400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr22:31535400-31536400	Active TSS	Lung	lung
16	chr22:31535400-31536600	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr22:31535400-31536600	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr22:31535400-31536600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr22:31535400-31536600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr22:31535600-31536200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr22:31535600-31536600	Flanking Active TSS	Esophagus	oesophagus
22	chr22:31535600-31536800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr22:31535800-31536200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr22:31535800-31536400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:31535800-31536400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr22:31535800-31536600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr22:31535800-31536800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr22:31535800-31536800	Enhancers	Fetal Brain Female	brain
29	chr22:31535800-31537000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr22:31535800-31537000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr22:31536000-31536200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr22:31536000-31536200	Enhancers	K562	blood
33	chr22:31536000-31536400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr22:31536000-31536400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr22:31536000-31536600	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr22:31536000-31536600	Enhancers	Right Ventricle	heart
37	chr22:31536000-31536800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr22:31536000-31536800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr22:31536000-31537000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr22:31536000-31537000	Enhancers	Fetal Brain Male	brain
41	chr22:31536000-31537200	Enhancers	Gastric	stomach

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