Variant report

Variant	rs17148311
Chromosome Location	chr7:125037960-125037961
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:125037857..125040245-chr7:125044740..125047619,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10259429	0.85[EUR][1000 genomes]
rs10464530	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10500113	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10500114	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1358145	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1358146	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1358147	0.85[EUR][1000 genomes]
rs1526409	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1526410	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1526411	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1582860	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17132915	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17132917	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17132919	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17148343	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17148357	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17148380	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17148383	0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17148384	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17148403	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17148405	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1820591	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1834819	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1834821	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28613697	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55819664	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55819822	0.85[EUR][1000 genomes]
rs55947662	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56003455	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56114081	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56229058	0.94[ASN][1000 genomes]
rs58297157	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58689916	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59642554	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60204000	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60526024	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6956995	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7779471	0.87[EUR][1000 genomes]
rs7789050	0.85[EUR][1000 genomes]
rs7808860	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs961763	0.87[EUR][1000 genomes]
rs9641766	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9641767	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422188	chr7:124782873-125254203	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv2761087	chr7:124823624-125429662	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv889140	chr7:124921028-125042024	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv464709	chr7:124921028-125068580	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv608345	chr7:124921028-125068580	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv889141	chr7:124935779-125072969	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv889142	chr7:124958806-125068580	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1028369	chr7:124967804-125508233	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv948720	chr7:124970772-125783434	Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv889143	chr7:124977736-125042024	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv889144	chr7:124977736-125068580	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv889145	chr7:124977736-125231999	Enhancers ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv889146	chr7:124996787-125083020	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1023903	chr7:125027662-125057454	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125035800-125039200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:125035800-125039800	Enhancers	Primary hematopoietic stem cells	blood
3	chr7:125036200-125038600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr7:125037600-125039800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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