Variant report

Variant	rs1015488
Chromosome Location	chr7:71732966-71732967
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:71724576..71726876-chr7:71731815..71733875,3	K562	blood:
2	chr7:71730756..71733410-chr7:71737455..71739236,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10224695	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10227014	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10227470	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10228688	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10244856	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10248548	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10253915	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10267124	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10277004	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10277561	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10282511	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1034617	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11762676	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11762805	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11971116	0.88[EUR][1000 genomes]
rs11981237	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1232521	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12537060	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12539817	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17673971	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2023724	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2023725	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2203709	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2203710	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2677274	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2677277	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2677279	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2677281	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28591449	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28733015	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4719222	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs492481	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs495016	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs496808	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs501430	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs505671	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs512843	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs520564	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs531390	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs532169	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs534603	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs536759	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs538657	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs544861	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs549763	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs562477	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62459264	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62464865	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6460710	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67502107	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6947575	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6970677	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73143215	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv1019700	chr7:71677836-71844973	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv538943	chr7:71677836-71844973	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv607460	chr7:71713735-71817899	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv1033860	chr7:71715105-71778772	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv538944	chr7:71715105-71778772	Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv1032591	chr7:71715105-71794258	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv538945	chr7:71715105-71794258	Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71721400-71734600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:71722800-71735200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:71729000-71734600	Genic enhancers	Fetal Thymus	thymus
4	chr7:71730000-71733000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:71730200-71734200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr7:71730400-71733400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:71731000-71733400	Enhancers	Fetal Intestine Large	intestine
8	chr7:71731200-71733000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:71731200-71733600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:71731400-71733000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:71731600-71734800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:71732400-71736200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:71732600-71733800	Weak transcription	Thymus	Thymus
14	chr7:71732600-71734200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:71732600-71734600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:71732600-71760600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:71732800-71733800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:71732800-71758000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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