Variant report

Variant	rs12538529
Chromosome Location	chr7:71654001-71654002
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10215588	0.91[JPT][hapmap]
rs10231333	0.82[JPT][hapmap]
rs10254309	0.82[JPT][hapmap]
rs10255136	0.82[JPT][hapmap]
rs10260183	0.82[JPT][hapmap]
rs10260420	0.82[JPT][hapmap]
rs10260767	0.82[JPT][hapmap]
rs10281262	0.82[JPT][hapmap]
rs10807742	0.91[JPT][hapmap]
rs10807744	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10950291	0.90[JPT][hapmap]
rs10950294	0.91[JPT][hapmap]
rs10950295	0.91[JPT][hapmap]
rs10950297	0.82[JPT][hapmap]
rs10950298	0.82[JPT][hapmap]
rs10950301	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11760663	0.82[CHB][hapmap];0.83[AMR][1000 genomes]
rs11765179	0.94[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11767811	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11770441	0.80[CEU][hapmap]
rs11772246	0.88[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11773728	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11972568	0.82[JPT][hapmap]
rs11982267	0.91[JPT][hapmap]
rs11983124	0.91[JPT][hapmap]
rs12155060	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12531663	1.00[CHB][hapmap];0.88[YRI][hapmap];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12666578	0.82[JPT][hapmap]
rs12699123	0.82[ASN][1000 genomes]
rs13224539	0.82[JPT][hapmap]
rs13239589	0.82[JPT][hapmap]
rs17144357	0.88[CEU][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17144369	0.82[ASN][1000 genomes]
rs17144373	0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs2040869	0.82[JPT][hapmap]
rs2867567	0.82[JPT][hapmap]
rs34801868	0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs4457209	0.82[JPT][hapmap]
rs4717628	0.88[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4717633	0.83[AFR][1000 genomes]
rs4719207	0.91[JPT][hapmap]
rs4719209	0.91[JPT][hapmap]
rs4719215	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4719216	0.88[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4719219	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4719220	1.00[YRI][hapmap]
rs6952558	0.88[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6959686	0.82[JPT][hapmap]
rs6963114	0.82[JPT][hapmap]
rs6978130	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71551251	0.82[ASN][1000 genomes]
rs73127982	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73130009	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73141552	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73141560	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73141567	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73141575	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7788950	0.83[AMR][1000 genomes]
rs7797796	0.91[JPT][hapmap]
rs959405	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026896	chr7:71003462-71721516	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv916220	chr7:71200006-71708048	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv531372	chr7:71300090-71909517	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv491610	chr7:71422560-71803630	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv531373	chr7:71487076-71765613	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv817506	chr7:71488542-71935721	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv1034282	chr7:71531113-71876617	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv1015848	chr7:71552185-71736068	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv538942	chr7:71552185-71736068	ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv831024	chr7:71569349-71735250	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv529620	chr7:71604785-71935721	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv1026161	chr7:71623729-71654085	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv492243	chr7:71648955-71935721	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71641200-71686800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:71642400-71663000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:71643600-71658400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:71647800-71656000	Weak transcription	Thymus	Thymus
5	chr7:71649400-71656600	Weak transcription	Fetal Thymus	thymus
6	chr7:71652800-71655200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:71653200-71660000	Weak transcription	Primary hematopoietic stem cells	blood

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