Variant report

Variant	rs4745223
Chromosome Location	chr9:71334809-71334810
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:71333196..71335333-chr9:71393276..71395636,2	K562	blood:
2	chr9:71317604..71326808-chr9:71328532..71337502,16	K562	blood:
3	chr9:71320241..71323220-chr9:71332885..71336440,3	K562	blood:
4	chr9:71329093..71331549-chr9:71334294..71336227,2	K562	blood:
5	chr9:71333441..71335989-chr9:71487302..71489155,2	K562	blood:
6	chr9:71324675..71326449-chr9:71333129..71335717,2	K562	blood:

Variant related genes	Relation type
ENSG00000107242	Chromatin interaction
ENSG00000187866	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10121993	0.89[CHB][hapmap];0.93[CHD][hapmap];0.84[JPT][hapmap];0.83[MEX][hapmap];0.83[ASN][1000 genomes]
rs10217316	0.89[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs10746919	0.84[ASN][1000 genomes]
rs10781117	0.84[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];0.89[JPT][hapmap];0.83[MEX][hapmap];0.82[ASN][1000 genomes]
rs10781119	0.82[ASN][1000 genomes]
rs10869225	0.84[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap];0.82[ASN][1000 genomes]
rs10869245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2151412	0.89[ASN][1000 genomes]
rs2151416	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2151417	0.86[ASN][1000 genomes]
rs2151418	1.00[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2184117	0.89[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.83[MEX][hapmap];0.83[ASN][1000 genomes]
rs4352908	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4534183	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4744680	0.84[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs4744683	1.00[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.91[TSI][hapmap];0.86[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4744685	0.89[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap];0.81[ASN][1000 genomes]
rs4745227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4745228	0.94[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap]
rs4745229	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4745230	0.89[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap];0.83[MEX][hapmap];0.84[ASN][1000 genomes]
rs6560316	0.84[CHB][hapmap];0.93[CHD][hapmap];0.83[JPT][hapmap]
rs7021661	0.84[ASN][1000 genomes]
rs7853748	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7857057	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7867941	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[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	nsv1026962	chr9:71130848-71357605	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv2757339	chr9:71291107-71353743	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2759693	chr9:71291107-71353743	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71322000-71349400	Weak transcription	Aorta	Aorta
2	chr9:71322200-71335000	Weak transcription	Placenta	Placenta
3	chr9:71323600-71335800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr9:71324400-71346400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:71328200-71337600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:71330000-71335400	Enhancers	Stomach Mucosa	stomach
7	chr9:71330200-71335800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr9:71330200-71342600	Weak transcription	GM12878-XiMat	blood
9	chr9:71330400-71336400	Weak transcription	Right Atrium	heart
10	chr9:71331000-71336400	Weak transcription	Right Ventricle	heart
11	chr9:71331800-71335200	Enhancers	Colonic Mucosa	Colon
12	chr9:71332000-71336600	Enhancers	Fetal Intestine Small	intestine
13	chr9:71332000-71337200	Enhancers	Fetal Intestine Large	intestine
14	chr9:71332400-71335400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr9:71332600-71335400	Enhancers	Duodenum Mucosa	Duodenum
16	chr9:71333000-71335400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:71333000-71335800	Weak transcription	Left Ventricle	heart
18	chr9:71333000-71336600	Enhancers	Primary hematopoietic stem cells	blood
19	chr9:71333200-71342600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr9:71333400-71335000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr9:71333400-71335400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr9:71333400-71336600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr9:71333600-71336000	Weak transcription	Primary B cells from cord blood	blood
24	chr9:71333800-71335000	Weak transcription	Brain Germinal Matrix	brain
25	chr9:71334000-71335000	Weak transcription	Fetal Stomach	stomach
26	chr9:71334000-71345600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:71334400-71335200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr9:71334400-71335200	Enhancers	Small Intestine	intestine
29	chr9:71334600-71335000	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr9:71334600-71335000	Flanking Active TSS	HepG2	liver
31	chr9:71334600-71335200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:71334600-71336600	Enhancers	Fetal Heart	heart
33	chr9:71334800-71335200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:71334800-71335200	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr9:71334800-71338200	Enhancers	K562	blood

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