Variant report

Variant	rs17148321
Chromosome Location	chr7:125050245-125050246
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	chr7:125044926..125048888-chr7:125049294..125054485,5	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10085610	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10085871	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10085895	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10241036	0.93[EUR][1000 genomes]
rs10500110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808221	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10954070	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10954072	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10954073	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11763577	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11766248	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11770231	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11770385	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11974022	0.92[EUR][1000 genomes]
rs12673529	0.87[EUR][1000 genomes]
rs1344654	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1346357	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1346358	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1358148	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1427569	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1427570	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1427584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2042819	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2042821	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4262272	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4268072	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4452732	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4496892	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4537243	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57140942	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60052046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62479865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467004	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6467005	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6467006	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6467009	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6945040	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6945564	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6951568	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6952136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952222	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6956746	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6957878	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6961673	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6961775	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6961868	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6961942	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6961969	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6962494	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6962726	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965116	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6966097	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6966372	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6966447	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6972166	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6976619	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6979984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780175	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7780500	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7780578	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7783813	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7784326	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7784402	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7790843	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7791113	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7804579	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7807227	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs934026	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs934027	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs934028	0.89[EUR][1000 genomes];0.87[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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv1023903	chr7:125027662-125057454	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1018428	chr7:125044642-125730775	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv831120	chr7:125044774-125207696	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125045600-125050400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:125049600-125050400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:125049800-125050600	Enhancers	HMEC	breast
4	chr7:125050000-125053600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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