Variant report

Variant	rs2234593
Chromosome Location	chr11:32414333-32414334
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:32408220..32412580-chr11:32413005..32416101,5	K562	blood:
2	chr11:32407201..32409874-chr11:32413838..32416426,2	K562	blood:
3	chr11:32414284..32417176-chr11:32418319..32421153,2	K562	blood:
4	chr11:32413367..32415903-chr11:32442457..32444810,2	K562	blood:
5	chr11:32413863..32417759-chr11:32446575..32449998,5	K562	blood:
6	chr11:32414284..32415861-chr11:32418319..32421122,2	K562	blood:
7	chr11:32366531..32369221-chr11:32412798..32414828,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12271917	1.00[CHB][hapmap]
rs16923250	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs16923260	1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes]
rs17673047	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs2234588	0.83[AFR][1000 genomes]
rs28460016	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3858441	0.81[ASW][hapmap]
rs3901671	0.81[ASW][hapmap]
rs5030195	0.83[AFR][1000 genomes]
rs5030219	0.84[AFR][1000 genomes]
rs5030228	1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes]
rs5030255	0.86[ASN][1000 genomes]
rs5030278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030302	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs5030311	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs5030315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030335	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs59961456	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7105471	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7120483	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73473736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv832108	chr11:32395937-32560583	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1038188	chr11:32410305-32449799	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32408600-32421600	Weak transcription	Left Ventricle	heart
2	chr11:32409400-32422000	Weak transcription	Fetal Kidney	kidney
3	chr11:32412000-32417800	Weak transcription	Right Ventricle	heart
4	chr11:32412200-32418000	Weak transcription	Spleen	Spleen
5	chr11:32412400-32417600	Weak transcription	Ovary	ovary
6	chr11:32412600-32421800	Strong transcription	K562	blood
7	chr11:32413000-32416200	Weak transcription	Fetal Heart	heart
8	chr11:32413400-32414400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:32413600-32414600	Enhancers	Fetal Thymus	thymus
10	chr11:32413600-32414800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr11:32413600-32415200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:32413600-32415400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:32413600-32415400	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr11:32413800-32414400	Enhancers	Primary hematopoietic stem cells	blood
15	chr11:32414000-32415000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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