Variant report

Variant	rs521023
Chromosome Location	chr7:125301853-125301854
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	chr7:125298032..125299556-chr7:125301749..125304185,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10155905	0.98[ASN][1000 genomes]
rs10156045	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10226528	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10273027	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1157325	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12531592	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12539241	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12666193	0.84[ASN][1000 genomes]
rs12668761	0.84[ASN][1000 genomes]
rs12670153	0.87[EUR][1000 genomes]
rs12706675	0.97[ASN][1000 genomes]
rs13225478	0.84[ASN][1000 genomes]
rs1345236	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1362128	0.84[ASN][1000 genomes]
rs1419707	0.94[ASN][1000 genomes]
rs1419708	0.98[ASN][1000 genomes]
rs1541387	0.98[ASN][1000 genomes]
rs2051814	0.98[ASN][1000 genomes]
rs2107252	0.89[ASN][1000 genomes]
rs2402783	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4728026	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4731259	0.84[ASN][1000 genomes]
rs492585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524630	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62479892	0.84[ASN][1000 genomes]
rs62479897	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62479898	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62479899	0.87[EUR][1000 genomes]
rs62479900	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs679710	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7799544	0.84[ASN][1000 genomes]
rs7799906	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9791472	0.98[ASN][1000 genomes]
rs983850	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1028636	chr7:125073718-125406148	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv539112	chr7:125073718-125406148	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1034113	chr7:125099740-125412688	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1027318	chr7:125164599-125317502	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv539113	chr7:125164599-125317502	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv529134	chr7:125178203-125571449	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv889150	chr7:125232034-125716635	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv889151	chr7:125246542-125358505	Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv889152	chr7:125246542-125370694	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv889153	chr7:125246542-125521995	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv1018799	chr7:125262762-125384885	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv889154	chr7:125284039-125392358	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv889155	chr7:125287479-125392358	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv889156	chr7:125287479-125463717	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv1029137	chr7:125288126-125388062	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125299800-125302000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:125299800-125302000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr7:125300200-125302600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr7:125300200-125302800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:125300200-125303000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:125300400-125303400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:125300400-125303400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:125300600-125302800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:125300600-125303400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:125300600-125308600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:125301200-125302000	Enhancers	Primary hematopoietic stem cells	blood
12	chr7:125301400-125302200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:125301600-125302000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:125301600-125303000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:125301800-125302000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:125301800-125302200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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