Variant report

Variant	rs517128
Chromosome Location	chr6:62928000-62928001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12189946	0.83[EUR][1000 genomes]
rs12212314	0.80[EUR][1000 genomes]
rs176601	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176615	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs208972	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs208973	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs208977	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs208978	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs208979	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs208980	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs208981	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs208988	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs208990	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs208992	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs208994	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs208999	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs209000	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs209001	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs209002	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs209006	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs209011	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs209014	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs209016	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2639416	0.83[EUR][1000 genomes]
rs2814653	0.83[EUR][1000 genomes]
rs2842803	0.83[EUR][1000 genomes]
rs2842805	0.83[EUR][1000 genomes]
rs2842814	0.83[EUR][1000 genomes]
rs474068	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs484791	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs523967	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72884495	0.80[EUR][1000 genomes]
rs855408	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9294843	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv538268	chr6:62900450-62928906	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
2	nsv1017249	chr6:62906813-63317382	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1020677	chr6:62911584-63309663	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv603318	chr6:62923203-62928237	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
5	nsv603319	chr6:62923203-62928521	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
6	esv33001	chr6:62924723-62928212	Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
7	nsv603322	chr6:62925124-62928237	Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
8	nsv603323	chr6:62925124-62928521	Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv603324	chr6:62925124-62934455	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
10	nsv603325	chr6:62925124-62934738	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
11	nsv442002	chr6:62925642-62928304	Weak transcription	n/a	n/a	inside rSNPs	diseases
12	nsv514363	chr6:62925645-62928313	Weak transcription	n/a	n/a	inside rSNPs	diseases
13	nsv603328	chr6:62926037-62928237	Weak transcription	n/a	n/a	inside rSNPs	diseases
14	nsv603329	chr6:62926037-62928521	Weak transcription	n/a	n/a	inside rSNPs	diseases
15	nsv603330	chr6:62926037-62934455	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
16	nsv603335	chr6:62926139-62928000	Weak transcription	n/a	n/a	inside rSNPs	diseases
17	nsv603336	chr6:62926139-62928110	Weak transcription	n/a	n/a	inside rSNPs	diseases
18	nsv603337	chr6:62926139-62928237	Weak transcription	n/a	n/a	inside rSNPs	diseases
19	nsv603338	chr6:62926139-62928521	Weak transcription	n/a	n/a	inside rSNPs	diseases
20	nsv603339	chr6:62926139-62934455	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
21	nsv603341	chr6:62926297-62928237	Weak transcription	n/a	n/a	inside rSNPs	diseases
22	nsv603342	chr6:62926297-62928521	Weak transcription	n/a	n/a	inside rSNPs	diseases
23	nsv603343	chr6:62926297-62934455	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
24	nsv603344	chr6:62926297-62934738	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
25	nsv603345	chr6:62926391-62928000	Weak transcription	n/a	n/a	inside rSNPs	diseases
26	nsv603346	chr6:62926391-62928237	Weak transcription	n/a	n/a	inside rSNPs	diseases
27	nsv603347	chr6:62926391-62928521	Weak transcription	n/a	n/a	inside rSNPs	diseases
28	nsv603348	chr6:62926671-62928110	Weak transcription	n/a	n/a	inside rSNPs	diseases
29	nsv603349	chr6:62926787-62928521	Weak transcription	n/a	n/a	inside rSNPs	diseases
30	nsv1021518	chr6:62927880-62974776	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62921600-62929600	Weak transcription	Primary B cells from cord blood	blood

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